Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Chst11 MGI:1927166

Gene Summary

Name:

carbohydrate sulfotransferase 11

Synonyms:

chondroitin 4, C4ST-1, C4ST1, 1110020P09Rik, C4ST

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Chst11^{tm1a(KOMP)Wtsi}	HOM		Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

View images

X-ray

XRay Images Forepaw

14 Images

View images

DSS Histology

Images

7 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

View images

X-ray

XRay Images Skull Lateral Orientation

14 Images

View images

Eye Morphology

Images Slit Lamp

1 Images

View images

Anti-nuclear antibody assay

Images

6 Images

View images

Ear epidermis immunophenotyping

Images

12 Images

View images

Legacy Phenotype Associated Images

Chst11^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

View all 113 images

Chst11^{tm1a(KOMP)Wtsi}
abnormal placement of pupils, abnormal pupil morphology, HET, Male, WTSI

Human diseases caused by Chst11 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Chst11 (1 diseases)
Human diseases predicted to be associated with Chst11 (981 diseases)

The table below shows human diseases associated to Chst11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits		Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167

The table below shows human diseases predicted to be associated to Chst11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Coxa Vara	Coxa vara	OMIM:122750
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat...	OMIM:269250
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti...	OMIM:223800
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in...	OMIM:256050
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,...	ORPHA:85166
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Tibial Hemimelia	Absent tibia	OMIM:275220
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac...	OMIM:187600
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr...	ORPHA:166272
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Short neck, ...	OMIM:200600
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Ne...	OMIM:602471
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ili...	ORPHA:1452
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse...	ORPHA:2021
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Odontochondrodysplasia 1	Respiratory distress, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short pha...	OMIM:184260
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Increased...	OMIM:618961
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl...	OMIM:156510
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Pectus carinatum, Hypoplas...	ORPHA:958
Cleidocranial Dysplasia 1	Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse...	OMIM:119600
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Lateral c...	ORPHA:1801
Osteoglophonic Dysplasia	Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:210720
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Campomelic Dysplasia	Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi...	ORPHA:141152
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, 2-3 toe...	OMIM:600920
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing...	OMIM:151210
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen...	ORPHA:2631
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis...	ORPHA:40
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat...	OMIM:108721
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Campomelic Dysplasia	Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Micro...	OMIM:114290
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte...	ORPHA:1512
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Lethal Recessive Chondrodysplasia	Respiratory distress, Micromelia, Micrognathia, Short long bone, Narrow chest, Flared elbow metap...	ORPHA:1423
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli...	ORPHA:79107
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Convex nasal ridge, Brachydac...	ORPHA:1277
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w...	OMIM:614524
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o...	OMIM:609616
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B...	OMIM:615222
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Kniest Dysplasia	Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abno...	OMIM:156550
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir...	OMIM:609325
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality...	ORPHA:163966
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Diaphanospondylodysostosis	Respiratory distress, Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax...	ORPHA:66637
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Apl...	OMIM:146000
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Short thorax, Broad...	OMIM:269860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ...	OMIM:614078
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Diastrophic Dysplasia	Abnormal clavicle morphology, Proximal placement of thumb, Micrognathia, Micromelia, Symphalangis...	ORPHA:628
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postax...	OMIM:617102
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Delayed epiphyseal ossification, Tachypnea, Narrow chest, Death in childh...	OMIM:613320
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Perching Syndrome	Respiratory distress, Depressed nasal bridge, Scoliosis, Camptodactyly	OMIM:617055
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme...	ORPHA:2635
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly, Scoliosis, Micrognathia	OMIM:300934
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae,...	ORPHA:79345
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Death in childhood, Anteverted nares, Thoracolumbar kyphoscol...	OMIM:252500
Achondroplasia	Respiratory distress, Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Choanal s...	OMIM:100800
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Micrognathia, Respiratory insufficienc...	ORPHA:1143
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Cone-shaped epiphysis, ...	OMIM:102370
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Amelogenesis imperfecta, Micr...	OMIM:618363
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh...	OMIM:300106
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Wide nasal bridge, Pren...	OMIM:618393
Acrocephalopolydactyly	Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, Thoracic hypopl...	ORPHA:221054
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital...	OMIM:132400
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphy...	OMIM:612813
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb...	ORPHA:93351
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Short neck, Micrognathia, Dyspnea, Depressed nasal ridge,...	ORPHA:1832
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Rocker bottom foot, Single transver...	OMIM:108120
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance...	OMIM:215045
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Depressed nasal ridge, Tetrapho...	OMIM:215140
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Death in infancy, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Shor...	OMIM:616809
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebra...	OMIM:108720
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Arthralgia of the hip, Abnormality of radial epiphyses...	ORPHA:166002
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi...	ORPHA:3104
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaph...	ORPHA:93346
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit...	ORPHA:168549
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Choanal stenosis, Narrow chest, Abnormality of the wrist, Abnormal vertebral morp...	ORPHA:95699
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape...	OMIM:271665
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Hypoplastic scapulae, Femoral retroversion	OMIM:607371
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T...	OMIM:300863
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Flared metaphysis,...	OMIM:602557
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micromelia, Micrognathia, Short neck, Dyspnea, Hypo...	ORPHA:3015
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Respiratory insufficiency, Stillbirth, Narrow chest, Short ribs, Ab...	OMIM:600972
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Narrow chest, Sho...	ORPHA:56304
Osteogenesis Imperfecta, Type X	Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, ...	OMIM:613848
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Three M Syndrome 2	Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte...	OMIM:612921
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm	ORPHA:168555
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morph...	ORPHA:1427
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Arachnodactyly, Choanal atresia, Long palm, Missing ribs, Dyspnea, Abnormal...	ORPHA:2759
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Moebius Syndrome	Respiratory distress, Syndactyly, Brachydactyly, Abnormal nasopharynx morphology, Depressed nasal...	OMIM:157900
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Abnormal rib morpholo...	ORPHA:2790
Epiphyseal Dysplasia, Multiple, 6	Flat distal femoral epiphysis, Flat capital femoral epiphysis, Schmorl's node, Irregular distal f...	OMIM:614135
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Sh...	ORPHA:1865
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow exten...	ORPHA:156728
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, K...	ORPHA:93316
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vert...	ORPHA:93262
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Diaphanospondylodysostosis	Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b...	OMIM:608022
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic il...	OMIM:611717
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Short neck, Micrognathia, Kyphosis, Respirat...	OMIM:611890
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge, Large tarsa...	OMIM:215150
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Underdeveloped nasal alae, Kyphosis, Limited elbow extension, Small...	OMIM:180870
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited ...	OMIM:183900
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Ollier Disease	Micromelia, Abnormal cartilage morphology, Multiple enchondromatosis, Platyspondyly, Abnormal met...	ORPHA:296
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Respiratory insufficiency, Tibial bowing, Thi...	OMIM:166210
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m...	OMIM:608940
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Sho...	ORPHA:1798
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met...	ORPHA:1540
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Pectus excavatum, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, Cutaneous synd...	ORPHA:166024
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Neonatal respiratory distress, Anteverted nares, Micrognathia,...	OMIM:616266
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydact...	OMIM:617895
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Platyspondyly, Abnormal epiphysis morphology, Abnormal vertebral epiph...	ORPHA:90653
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Short thorax, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,...	OMIM:601680
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Microretrognathia, Scapu...	OMIM:618870
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers...	ORPHA:2639
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology	ORPHA:163665
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Respiratory insufficiency, Restr...	OMIM:614399
Keipert Syndrome	Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop...	ORPHA:2662
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Preaxial hand polyd...	ORPHA:3098
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Short long bone, Small epip...	OMIM:620269
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev...	ORPHA:1529
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul...	ORPHA:2741
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Short thorax, Small hand,...	ORPHA:1597
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib ca...	OMIM:608154
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Underdeveloped nasal alae, Avascular necrosis of the capital femoral epiphysis,...	OMIM:190351
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep...	ORPHA:2831
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, W...	ORPHA:2107
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Short neck, Abnormal thumb morph...	ORPHA:1842
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol...	OMIM:618019
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Barrel-shaped chest, Lumbar hyperlordosis, Rhizomelia, Short neck, Abnorma...	ORPHA:171866
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Anisospondyly, Wide nasal bridge, Respiratory...	OMIM:224410
Pycnodysostosis	Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:763
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Micrognathia, Micromelia, Missing ribs...	OMIM:617866
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Camptodactyly of finger, Kyp...	OMIM:612350
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ...	OMIM:252100
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max...	ORPHA:397973
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of finger	ORPHA:2776
Three M Syndrome 3	Prominent nasal tip, Anteverted nares, Short neck, Hyperlordosis, Increased vertebral height, Sho...	OMIM:614205
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio...	OMIM:620099
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor...	OMIM:255800
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ...	ORPHA:776
Frontonasal Dysplasia 1	Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand polydactyly, Hypoplas...	OMIM:136760
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abn...	ORPHA:177
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Pectus excav...	OMIM:300676
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Camptodactyly of finger, Single t...	ORPHA:915
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage	ORPHA:2867
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Short neck, Metaphyseal wid...	OMIM:224400
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Rhizomeli...	OMIM:616229
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis,...	OMIM:271510
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Barrel-shaped chest, Abnormally ossi...	ORPHA:94068
Achondrogenesis, Type Ii	Microretrognathia, Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, S...	OMIM:200610
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Talip...	ORPHA:85279
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Short neck, Short thorax, Abnormal rib morphology, Sh...	ORPHA:93298
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Pectu...	ORPHA:261295
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Hypoplastic facial bones, Overtubulated long bones, Shor...	OMIM:619793
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Micromelia, Micrognathia, Short neck, Short thorax, Sho...	ORPHA:93299
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of the hallux, ...	ORPHA:337
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis ...	OMIM:166300
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Fractured radius, Anteverted nares, Decreased fibular diamet...	OMIM:616897
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Kagami-Ogata Syndrome	Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Hypoplasi...	OMIM:608149
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoi...	OMIM:224690
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Micrognathia, Scoliosis, S...	OMIM:615042
Bardet-Biedl Syndrome 16	Respiratory distress, Polydactyly	OMIM:615993
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing...	ORPHA:2980
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,...	OMIM:147750
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars...	OMIM:614613
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Shor...	OMIM:615633
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o...	ORPHA:3121
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal...	OMIM:144750
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial han...	OMIM:241800
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Short long bone, Vertebral segme...	OMIM:618845
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morphology, Short...	ORPHA:163654
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax,...	ORPHA:2655
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Mic...	OMIM:114300
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Narrow chest...	OMIM:615777
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Prominent nasal bridge, Single transv...	OMIM:216550
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosi...	ORPHA:1145
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet...	ORPHA:64755
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Advanced erup...	ORPHA:192
Larsen-Like Syndrome	Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Absent nasal bridge, Radial deviatio...	OMIM:608545
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth, Ove...	OMIM:619142
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abn...	ORPHA:263463
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, 2-3 toe syndactyly, Wide nasal bridge, R...	OMIM:218000
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single transverse palmar c...	OMIM:305400
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p...	OMIM:609813
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc...	OMIM:601216
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Ky...	OMIM:616482
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hypoplastic ilia, Abno...	ORPHA:1860
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Depres...	ORPHA:93329
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Anteverted nares, Aplastic c...	ORPHA:50945
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Mesomelia-Synostoses Syndrome	Brachydactyly, Micromelia, Micrognathia, Abnormality of the humerus, Abnormality of the hand, Abn...	ORPHA:2496
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Micrognathia, Dental malocclusion, Temporomandibular joint ankylosis...	OMIM:614669
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Abnormal rib morphology, Malar flattenin...	ORPHA:2145
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Anteverted nares, Limited elbow movement, Micrognathia, Short neck, H...	OMIM:615065
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Metaphyseal widening, Anterior atlanto-occipital dislocation,...	ORPHA:536467
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Wide nose, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Tapered finger, ...	OMIM:272430
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Ovoid vertebral bodies...	OMIM:260400
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Epiphyseal stippling, Talipes equinovarus, Scoliosis	OMIM:118650
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Long nose, Narrow greater s...	ORPHA:508533
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Micromeli...	OMIM:211750
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Sp...	OMIM:252600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Lateral clavicle h...	OMIM:171480
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Kyph...	OMIM:231070
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulde...	OMIM:620369
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Respiratory distress, Wide nose, Rocker bottom foot, Wide nasal bridge, Adduct...	ORPHA:89844
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi...	ORPHA:2019
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo...	ORPHA:245
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas...	ORPHA:1788
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia	OMIM:300580
Stuve-Wiedemann Syndrome 1	Apnea, Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, ...	OMIM:601559
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Slender nose, Arachnodactyly, Micrognathia, Short neck, Abnormal pattern of respiration, Calcaneo...	ORPHA:562528
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Anteverted nares, Depressed nasa...	OMIM:217980
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno...	OMIM:251230
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Respiratory distress, Tapered finger, Hip dysplasia, Scoliosis, Finger joint...	ORPHA:544503
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Single transverse palmar cr...	OMIM:216340
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Hypophosphatasia, Infantile	Death in infancy, Apnea, Micromelia, Bowing of the legs, Vertebral clefting, Platyspondyly, Still...	OMIM:241500
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the...	ORPHA:175
Legg-Calvé-Perthes Disease	Cartilage destruction	ORPHA:2380
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Respiratory distress, Depressed nasal bridge, Micrognathia, Small hand, Upper limb un...	OMIM:608799
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Respiratory distress, Bilateral single transverse palmar creases, Micromelia, S...	ORPHA:50810
Chitayat Syndrome	Hallux valgus, Respiratory distress, Anteverted nares, Depressed nasal bridge, Pectus excavatum, ...	OMIM:617180
Lethal Congenital Contracture Syndrome Type 1	Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the...	ORPHA:1486
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Genu valgum	ORPHA:2972
Pyknoachondrogenesis	Craniofacial hyperostosis, Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal...	ORPHA:3003
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydact...	OMIM:619143
Tetrasomy 5P	Respiratory distress, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Pectus excav...	ORPHA:3309
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
Shprintzen-Goldberg Syndrome	Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia...	ORPHA:2462
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebral column, Mala...	OMIM:109120
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin...	ORPHA:794
Van Maldergem Syndrome 2	Short fourth metatarsal, Sacral dimple, Depressed nasal bridge, Ulnar deviation of the hand, Trac...	OMIM:615546
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognath...	OMIM:257850
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Kyphosis, Short thorax, Respiratory insufficiency, Platyspond...	ORPHA:93274
Van Maldergem Syndrome 1	Short fourth metatarsal, Sacral dimple, Tracheomalacia, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:601390
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93259
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Camptodactyly Syndrome, Guadalajara Type 3	Short neck, Broad nasal tip, Small hand, Abnormal rib morphology, Spina bifida occulta, Broad col...	ORPHA:488434
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Congenital hip dislocation, Anteverted nares, Depressed nasal ridge...	ORPHA:2412
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Kyphoscoliosis	OMIM:619099
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Bilateral single transv...	ORPHA:3310
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Short neck, Hypoplasia of the maxilla, De...	ORPHA:178303
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Hypoplastic iliac wing, Abnormal vertebra...	ORPHA:93315
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm...	ORPHA:93311
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n...	OMIM:236500
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Aplasia/Hypoplasia of the...	OMIM:613803
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity, Hyperlordosis	OMIM:162370
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Anteverted nares, Micrognathia, Metatarsus adductus, Hypoplasia of the maxilla, M...	OMIM:182212
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly	OMIM:613819
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Prominent nasal bridge, Tapered finger, Micrognath...	ORPHA:193
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowing, Congenital bilateral hip disloca...	ORPHA:453510
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Respiratory distress, Overlapping toe, Anteverted nares, Wide nasal bridge, ...	OMIM:619383
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Anteverted nares, Depressed nasal bridge, Apnea, Micrognat...	ORPHA:314655
Thoracic Dysplasia-Hydrocephalus Syndrome	Depressed nasal ridge, Respiratory failure, Narrow chest, Limb undergrowth, Abnormal metaphysis m...	ORPHA:1861
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pectus excavatum, Small hand, Wide nasal bridge, Pectus carinatum, Broad finger, Clinodactyly, Sh...	OMIM:614684
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,...	OMIM:616007
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Short neck, Underdeveloped nasal alae, Metaphyseal wid...	OMIM:263210
Dysosteosclerosis	Micrognathia, Absent frontal sinuses, Increased intervertebral space, Hypoplastic vertebral bodie...	OMIM:224300
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Anteverted nares, Hypoplasia of the maxill...	ORPHA:481152
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Sacral dimple, Sandal gap, Depressed nasal bridge, Malar flattening, Long fingers, Bulb...	ORPHA:261279
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Short ...	ORPHA:3404
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ...	ORPHA:50814
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Recurrent...	ORPHA:3078
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb,...	ORPHA:435638
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Vertebral segmenta...	OMIM:611209
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, ...	OMIM:617088
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Achondrogenesis	Anteverted nares, Micromelia, Short neck, Micrognathia, Short thorax, Narrow chest, Short nose	ORPHA:932
4Q21 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Short neck, Kyphosis, Small hand, Short foot,...	ORPHA:238750
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re...	OMIM:619773
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, F...	OMIM:610682
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er...	OMIM:265800
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Spinal canal stenosis, B...	OMIM:277600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Patellar aplasia, Slender long bo...	OMIM:613804
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Kyphoscoliosis	OMIM:617977
Glutamine Deficiency, Congenital	Neonatal respiratory distress, Depressed nasal bridge, Anteverted nares, Micromelia, Apnea, Wide ...	OMIM:610015
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs,...	OMIM:139210
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Short femur, Anteverted nares, Metaphyseal spurs, Depressed nasal bridge, U...	OMIM:618188
Hypertelorism, Microtia, Facial Clefting Syndrome	Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Small thenar eminence, Abnormality of the vert...	OMIM:239800
Larsen Syndrome	Finger syndactyly, Depressed nasal bridge, Accessory carpal bones, Respiratory insufficiency, Ver...	ORPHA:503
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnorma...	ORPHA:64754
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Enthesitis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Abnormal thoracic spine morphol...	ORPHA:85438
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, Wrist flexion contractu...	ORPHA:800
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognat...	OMIM:616331
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Abnor...	ORPHA:2588
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ...	ORPHA:319675
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever...	ORPHA:40366
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Prominent nose, Squared iliac ...	OMIM:616300
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Lumbar hyperlordosis, Broad hallux, Prominent nasal bridge, Convex nasal ridge, Microg...	ORPHA:251028
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Prominent nose, Long fingers, Recur...	OMIM:256040
Stüve-Wiedemann Syndrome	Respiratory distress, Bowing of the long bones, Sacral dimple, Apnea, Camptodactyly of finger, Mi...	ORPHA:3206
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Missing ribs, C...	ORPHA:2769
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem...	OMIM:213980
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Hyperlordosis, Broad nasa...	ORPHA:354
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin...	ORPHA:391474
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Clinodactyly, Short distal phalanx of finger, Short nose, B...	OMIM:614261
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Sacral dimple, Depressed nasal bridge, Choanal atresia, Postaxial polydacty...	OMIM:300968
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathi...	OMIM:610536
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough, Triceps w...	ORPHA:86812
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w...	OMIM:617809
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t...	ORPHA:1318
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Trapezoidal vertebr...	OMIM:600092
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ...	OMIM:143095
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Choanal Atresia	Respiratory distress, Upper airway obstruction, Nasal congestion, Polydactyly, Tracheomalacia, Ch...	ORPHA:137914
Osteogenesis Imperfecta	Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasal ridge, Abn...	ORPHA:666
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Congenital Myasthenic Syndrome	Microretrognathia, Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic ap...	ORPHA:590
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic ap...	ORPHA:98914
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Abnormal epiphysis...	ORPHA:226313
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia...	ORPHA:1855
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Underdeveloped nasal alae, Wide nasal bridge, Coxa vara, Narrow pelvi...	ORPHA:2637
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Patellar...	OMIM:613805
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Anteverted nares, Arachnodactyly, Micromelia, Genu valgum, Convex nasal ridge	ORPHA:1035
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5t...	ORPHA:1507
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Micrognathia, Short neck, Femoral bowing, Short long bone, Broad ribs, Narrow...	OMIM:617022
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Anteverted nares, Micrognathia, Broad nasal tip, Wide nasal bridge, Mes...	OMIM:618529
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Wiedemann-Steiner Syndrome	Sacral dimple, Wide nose, Tapered finger, Micrognathia, Contracture of the distal interphalangeal...	OMIM:605130
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Micrognathia, Dyspnea, Respiratory failure, Retrognathia	ORPHA:2707
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Metatarsus adductus, Hypoplasia of the maxilla, Asthma, Recurrent upp...	ORPHA:293939
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, ...	OMIM:617925
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat...	OMIM:208500
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypoplasia of the...	ORPHA:2554
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Prominent nasal bridge, Short toe, Asthma, Cone-shaped epiphyses of the phalanges of the hand, Pl...	OMIM:619269
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Wide nose, Short neck, Pectus excavatum, Metaphyseal widening, Recurrent pn...	OMIM:617303
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, Pectus ex...	OMIM:300534
Keutel Syndrome	Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Calcification ...	ORPHA:85202
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Microretrognathia, Anteverted nares	ORPHA:228396
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Prominent nose, Lo...	ORPHA:2636
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor...	OMIM:276950
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda...	OMIM:615503
Congenital Vertical Talus	Rocker bottom foot, Equinus calcaneus	ORPHA:178382
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Finger clinodactyly, Shor...	ORPHA:2751
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Silver-Russell Syndrome	Sandal gap, Micrognathia, Upper limb asymmetry, Abnormal appendicular skeleton morphology, Scolio...	ORPHA:813
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Respiratory distress, Scapular winging, Hypoventilation, Neonatal respirat...	ORPHA:98915
7Q31 Microdeletion Syndrome	Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Asthma, Clinodactyly of the 2nd fing...	ORPHA:251061
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Bulbous nose, Wide nasal bridge, Micrognathia	ORPHA:261304
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Missing ribs, Lumbar hemiv...	OMIM:619859
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co...	OMIM:602535
Arterial Tortuosity Syndrome	Respiratory distress, Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necros...	ORPHA:3342
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metap...	OMIM:616462
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Short nec...	ORPHA:2879
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal br...	ORPHA:93260
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ...	OMIM:615630
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flattening, Short nose	ORPHA:79113
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Wide nose, B...	OMIM:600430
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Kinsship Syndrome	Mandibular prognathia, Death in infancy, Sacral dimple, Single transverse palmar crease, Coxa val...	OMIM:619297
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bri...	OMIM:309520
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Prominent nasal bridge, Long nose, Tracheobronchomalacia, Short long bone, Scol...	OMIM:619184
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ...	ORPHA:397715
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Depressed nasal bridge, Kyphoscoliosis, Metatarsus adductus, Pectus excavatum, Ca...	OMIM:612513
Frank-Ter Haar Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of finger, Ante...	OMIM:249420
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal chondrodysp...	OMIM:156400
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Pectus exca...	OMIM:271225
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology...	ORPHA:50251
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Hypoplasia of the maxilla, Short ...	OMIM:608328
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Thin ribs, Neonatal death, Retrognathia	OMIM:300219
Vertical Talus, Congenital	Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Phalangeal dislocat...	ORPHA:536532
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Prominent nose, Delayed ep...	OMIM:210710
Cerebrofacioarticular Syndrome	Syndactyly, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosis, Wide nas...	ORPHA:314679
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Andersen-Tawil Syndrome	Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teet...	ORPHA:37553
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoax...	OMIM:146510
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Respiratory distress, Underdeveloped nasolabial fold, Overlapping toe, Antev...	ORPHA:177907
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive...	OMIM:302960
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp...	ORPHA:2519
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Limb undergrowth, Short nose, Retrognathia	OMIM:618005
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Sandal gap, Recurrent shoulder dislocation, Thoracolumbar scoliosis, Kyphoscoliosi...	ORPHA:230851
Gm1 Gangliosidosis Type 1	Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Pectus carinatum, Hypoplastic vertebral ...	ORPHA:79255
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Wide nasal bridg...	OMIM:620157
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Broad nasal tip, Abnormal epiphysis morphology, Dimple on na...	ORPHA:1784
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, 11 pairs of ribs, Short neck, Pectus excavatum, Bulbous nose, A...	ORPHA:488632
Cog1-Cdg	Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valga, Short nec...	ORPHA:263508
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod...	OMIM:609638
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Respiratory insufficiency...	ORPHA:207
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Short thorax, Micrognathia	OMIM:601809
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Short neck, Single transverse palmar crease, Hy...	OMIM:614800
Nablus Mask-Like Facial Syndrome	Sandal gap, Anteverted nares, Short hallux, Tapered finger, Hypoplasia of the maxilla, Short neck...	OMIM:608156
X-Linked Intellectual Disability, Hedera Type	Hyporeflexia of upper limbs, Calcaneovalgus deformity, Scoliosis	ORPHA:93952
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Short neck, Metaphyseal widening, Irregular vertebral endplates, Metaphysea...	ORPHA:99646
Mogs-Cdg	Respiratory distress, Hypoventilation, Thoracic scoliosis, Wide nose, Apnea, Overlapping fingers,...	ORPHA:79330
3Mc Syndrome 2	Prominence of the premaxilla, Prominent nasal bridge, Limited elbow movement, Hip dislocation, Wi...	OMIM:265050
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Recurrent upper r...	ORPHA:2399
Episodic Ataxia Type 1	Hand clenching, Kyphoscoliosis, Respiratory distress, Scoliosis	ORPHA:37612
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Death in infancy, Depressed nasal b...	OMIM:259775
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Ky...	OMIM:616894
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the nasal bone, ...	ORPHA:2095
8Q24.3 Microdeletion Syndrome	Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar cr...	ORPHA:508488
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Micrognathia, Dental malocclusion, Scoliosis, Short nose	ORPHA:329178
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Respiratory distress, Respiratory failure requiring assisted ventilation, Ky...	OMIM:211530
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections...	ORPHA:60032
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Respiratory fa...	OMIM:620278
Gm1-Gangliosidosis, Type Ii	Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb...	OMIM:230600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Depressed nasal ridge, Abnormal form of the vertebral bo...	ORPHA:828
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:618302
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Hypoplastic fr...	ORPHA:560
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Narrow chest, Sco...	OMIM:619124
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Isolated Arrhinia	Respiratory distress, Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplas...	ORPHA:1134
Robinow Syndrome	Micrognathia, Hemivertebrae, Fused thoracic vertebrae, Syndactyly, Anteverted nares, Depressed na...	ORPHA:97360
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Natal tooth, Sandal gap, Single transverse ...	OMIM:612651
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction, Micrognathia	OMIM:612776
Goldberg-Shprintzen Syndrome	Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Short neck, Bulbous nose, Incr...	OMIM:609460
Myopathy And Diabetes Mellitus	Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress	ORPHA:2596
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Bifid nasal tip, Anteverted nares, H...	OMIM:211380
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, Hemivertebrae, Coxa vara, Pectus carinatum, Abnormal form o...	ORPHA:3107
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Spontaneous neonatal pneumothorax, Micrognathia, Wide anterior fontanel, Short toe, Recurrent man...	OMIM:225410
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo...	OMIM:307800
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Mulberry molar, Broad finger, Supernumerary maxillary inc...	OMIM:302350
Dpm1-Cdg	Sandal gap, Depressed nasal bridge, Micrognathia, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia...	OMIM:180700
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Pectus excavatum, Asthma, 2-3 toe sy...	OMIM:618162
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Mosaic Trisomy 9	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Micromelia, Short neck, Bulbous nose, ...	ORPHA:99776
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Tibial bowing, Choa...	ORPHA:798
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the maxilla, Pectus excavatum, Ulna...	ORPHA:1101
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Abnormal cartilage matrix, Respiratory insufficiency	OMIM:245650
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Bulbous nose	OMIM:618737
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum, Hyperphalangy...	OMIM:616145
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Rubinstein-Taybi Syndrome 1	Respiratory distress, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, P...	OMIM:180849
Craniofaciofrontodigital Syndrome	Respiratory distress, Depressed nasal bridge, Dyspnea, Pectus carinatum, Large hands, Scoliosis, ...	ORPHA:363705
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Xylt1-Cdg	Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Broad ribs, ...	ORPHA:370930
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum	OMIM:617798
Progressive Supranuclear Palsy-Corticobasal Syndrome	Hand clenching, Respiratory distress	ORPHA:240103
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Narrow nasal ridge, Micrognathia, Hypoplasia of teeth, Progressive clav...	OMIM:608612
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Abnormal hand morphology, Small hand, Broad finger, Abnormal nostril morphology, Retro...	OMIM:300845
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Anteverted nares, Prominent nasal bridge, Recurrent pneumonia, Short 5th finger, Scoliosis, Acrom...	ORPHA:500159
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Auriculocondylar Syndrome	Respiratory distress, Abnormality of the temporomandibular joint, Micrognathia, Dental malocclusi...	ORPHA:137888
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasi...	ORPHA:50
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Prominent nasal bridge, Micromelia	ORPHA:2220
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose	ORPHA:93945
Lowry-Maclean Syndrome	Short nasal bridge, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia ...	ORPHA:2409
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Clinodact...	ORPHA:3103
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Palmoplantar hyperkeratosis,...	OMIM:615108
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Talipes equinovarus	OMIM:620011
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Anteverted nares, Proximal placement of thumb, Narr...	OMIM:620370
Rapp-Hodgkin Syndrome	Syndactyly, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious...	OMIM:129400
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Succinic Acidemia	Respiratory distress	OMIM:600335
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Anteverted nares, Overlapping toe, Depressed nasal bridge, Cho...	OMIM:123790
Floating-Harbor Syndrome	Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Dislocated radial head,...	ORPHA:2044
Familial Nasal Acilia	Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro...	ORPHA:922
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar c...	ORPHA:83617
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Overlapping toe, Anteverted nares, Kyphoscoliosis, Broad nasal tip, Hypopl...	OMIM:617402
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus, Wide nasal b...	OMIM:616367
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Mandibular aplasia	OMIM:202650
Mgat2-Cdg	Respiratory distress, Pectus excavatum, Kyphosis, Low hanging columella, Scoliosis, Recurrent upp...	ORPHA:79329
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypoplasia of the maxilla, Wide nasal bridge, 2-3 toe syndactyly, Palmoplantar keratoderma, Bilat...	OMIM:106260
Doors Syndrome	Respiratory distress, Abnormal finger morphology, Hemivertebrae, Triphalangeal thumb, Aspiration ...	ORPHA:79500
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Short dis...	ORPHA:86822
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Palmoplantar hyperkeratosis,...	OMIM:615109
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum...	ORPHA:59315
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Malaria	Respiratory distress	ORPHA:673
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur...	OMIM:263000
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Mandibular prognathia, Abnormality of the vertebral spinous pro...	ORPHA:1299
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Conical...	ORPHA:289
Gaucher Disease, Perinatal Lethal	Respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Micrognathia, Neonatal dea...	OMIM:608013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Abnormality of the sense of smell, Retrogna...	ORPHA:2189
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Anteverted nares, Sandal gap, Small hand, Prominent fingertip pads	OMIM:612863
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Malar flattening, Choanal stenosis, Micrognathia	OMIM:241310
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Micromelia, Short nec...	OMIM:122470
Adnp Syndrome	Respiratory distress, Broad hallux, Sandal gap, Depressed nasal bridge, Single transverse palmar ...	ORPHA:404448
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Pectus excavatum, Calcaneovalgus deformity	OMIM:225320
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Rhizomelia, Micrognathia, Trismus, Bulbous nose, Brachioradialis areflexia,...	OMIM:616271
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di...	OMIM:182250
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Nasal polyposis, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory...	OMIM:265120
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger	OMIM:208060
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis...	OMIM:304050
Esophageal Atresia	Respiratory distress, Choanal atresia, Laryngotracheomalacia, Episodic respiratory distress, Chro...	ORPHA:1199
Oromandibular Dystonia	Respiratory distress, Abnormality of the temporomandibular joint, Abnormal mandible morphology, A...	ORPHA:93958
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short neck, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p...	OMIM:266920
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Lumbar hyperlordosis, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equ...	ORPHA:522077
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo...	OMIM:209885
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing...	OMIM:300990
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Aplasia/Hypoplasia involving the nose, Absent nares, Respiratory distress	ORPHA:990
Neu-Laxova Syndrome 1	Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Short...	OMIM:256520
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tapered finger, Long fingers, Calcaneovalgus deformity, Wide nasal bridge,...	ORPHA:521445
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Palmoplantar hyperkeratosis,...	OMIM:158350
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,...	ORPHA:306542
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Farber Disease	Respiratory distress, Abnormality of the hand, Short toe, Recurrent upper respiratory tract infec...	ORPHA:333
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Long thorax, Narrow chest, Recurrent aspiration pneu...	OMIM:616268
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Depressed nasal bridge, Inspiratory stridor, Irregular re...	OMIM:604377
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia	OMIM:245590
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal ...	ORPHA:93271
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies, Adv...	ORPHA:818
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Neonatal respiratory distress, Recurrent aspiration pneumonia, Single transvers...	ORPHA:79243
Marfan Syndrome	Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Equinus calcaneus, Metatarsus adductus, Micr...	OMIM:154700
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Distal Deletion 19P	Long toe, Hypoplasia of the maxilla, Arachnodactyly	ORPHA:96129
Pachyonychia Congenita	Respiratory distress, Natal tooth, Palmoplantar blistering, Palmoplantar keratoderma, Palmoplanta...	ORPHA:2309
Tetanus	Respiratory distress, Trismus, Tachypnea	ORPHA:3299
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Congenital hip dislocation, Prominent nose, Depressed nasal bridge, Thoraco...	ORPHA:480880
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Micromelia	ORPHA:2772
Tularemia	Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Cough, Pleural effusion	ORPHA:3392
Combined Oxidative Phosphorylation Defect Type 39	Prominent calcaneus, Scoliosis	ORPHA:565624
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Micrognathia	OMIM:606164
Zttk Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Kyphosis, Rib fusion, Small hand, Hemivertebra...	OMIM:617140
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Preaxia...	OMIM:616546
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Anteverted nares, Choanal atresia, Depressed nasal bridge, Palmoplantar cut...	ORPHA:1555
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Angelman Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Scoliosis	OMIM:105830
Peters-Plus Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Hypoplasia of the max...	OMIM:261540
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Diamond-Blackfan Anemia 10	Respiratory distress, Choanal atresia, Micrognathia, Supernumerary ribs, Malar flattening	OMIM:613309
Cleft Lip/Palate	Agenesis of lateral incisor, Hypoplasia of the maxilla, Dental malocclusion, Abnormality of denta...	ORPHA:199306
Alg12-Cdg	Wide nose, Sandal gap, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Ulnar d...	ORPHA:79324
Tracheobronchopathia Osteochondroplastica	Pneumonia, Productive cough, Wheezing, Recurrent pneumonia, Upper airway obstruction, Respiratory...	ORPHA:3348
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Wide...	ORPHA:861
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Anteverted nares, Depressed nasal brid...	OMIM:259050
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Broad ribs, Flaring of rib cage, Fused cervical vertebrae	OMIM:612852
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Anteverted nares, Underdeveloped nasal alae, Broad nasal tip, Wide nasal br...	ORPHA:438216
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Depressed nasal brid...	OMIM:619479
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Pectus excavatum, Short neck, Posta...	OMIM:613610
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Cleft Velum	Hypoplasia of the maxilla, Aspiration pneumonia	ORPHA:99772
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deviated nasal septum, Abnormality of the cervi...	OMIM:123500
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Foot oligodact...	OMIM:305600
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Coccidioidomycosis	Respiratory distress, Pneumonia, Cough, Abnormal long bone morphology, Abnormality of the vertebr...	ORPHA:228123
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Wide nose, Broad hallux, Depress...	OMIM:614188
Geleophysic Dysplasia 1	Short palm, Anteverted nares, Camptodactyly of finger, Coxa valga, Pectus excavatum, Short foot, ...	OMIM:231050
Alg9-Cdg	Microretrognathia, Ulnar deviation of the hand, Rhizomelia, Depressed nasal bridge, Micrognathia,...	ORPHA:79328
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Pectus carinatum, Lu...	ORPHA:505248
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Slender nose, Short metacarpal, Aplasia/hypoplasia involving bones of ...	ORPHA:221016
Congenital Diaphragmatic Hernia	Respiratory distress, Prominent sternum, Hypoxemia	ORPHA:2140
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Dyskeratosis Congenita	Hypoplasia of the maxilla, Carious teeth, Taurodontia, Palmoplantar keratoderma, Scoliosis, Coars...	ORPHA:1775
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Narrow nasal bridge, Sandal gap, Anteverted nares, Sin...	OMIM:601358
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Restrictive Dermopathy 1	Natal tooth, Depressed nasal bridge, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Narrow nas...	OMIM:275210
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Anteverted nares, Short proximal phalanx...	ORPHA:261323
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Limb undergrowth, Clinodactyly, Convex nasal ...	OMIM:616541
Desmosterolosis	Depressed nasal bridge, Micromelia, Micrognathia, Metatarsus adductus, Abnormality of the nose, S...	ORPHA:35107
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Wide anterior fontanel, Depressed nasal bridge, Respiratory distress	OMIM:231680
Infant Acute Respiratory Distress Syndrome	Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure	ORPHA:70587
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Nasal congestion, Stridor, Paroxysmal dys...	ORPHA:141083
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Depressed nasal bridge, Overlapping toe, Recurrent pneumonia, Depressed na...	ORPHA:99843
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Primary Dystonia, Dyt4 Type	Respiratory distress, Kyphoscoliosis	ORPHA:98805
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
C Syndrome	Death in infancy, Sacral dimple, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1308
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Toe syndactyly, Hypoplastic sacrum, Choanal atresia, Hypoplasia ...	OMIM:604292
Infantile Systemic Hyalinosis	Camptodactyly of finger, Micromelia, Short neck, Short palm, Brachydactyly	ORPHA:2176
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Orofaciodigital Syndrome Type 4	Finger syndactyly, Wide nose, Camptodactyly of finger, Micromelia, Micrognathia, Choanal atresia,...	ORPHA:2753
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge	ORPHA:782
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Anteverted nares, Single transverse palmar crease, Small hand, Intrinsic ha...	OMIM:615273
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Short metacarpal, Abnormal dental enamel morphology, Metaphyseal scler...	ORPHA:221008
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Depressed nasal bridge, Kyphoscoliosis, Absent thumb, Hypop...	ORPHA:500150
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency, Equinus calcaneus	ORPHA:746
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Mesomelia, Short nose, Hip subluxation	OMIM:613457
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Prominent nasa...	OMIM:606170
Ablepharon Macrostomia Syndrome	Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Underdeveloped...	ORPHA:920
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Slender long ...	OMIM:264090
Familial Calcium Pyrophosphate Deposition	Abnormal intervertebral disk morphology, Calcification of cartilage	ORPHA:1416
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Prominent na...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Sacral dimple, Arachnodactyly, Prominent na...	ORPHA:363958
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Postaxial hand p...	OMIM:610829
Ramos-Arroyo Syndrome	Respiratory distress, Anteverted nares, Depressed nasal bridge, Carious teeth, Concave nasal ridg...	ORPHA:1051
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypoplasia of the maxilla, Wide nasal bridge	OMIM:601499
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Bulbous nose, Asthma, N...	ORPHA:466943
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Prominence of the premaxilla, Wide nasal bridge, Prominent nose	OMIM:614886
Neu-Laxova Syndrome	Micromelia, Micrognathia, Trismus, Depressed nasal ridge, Large hands, Scoliosis, Retrognathia	ORPHA:2671
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, Short neck, Clinodactyly of the 5th finger...	ORPHA:199
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, R...	ORPHA:79404
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Short l...	OMIM:306955
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Toe syndactyly, Choanal atresia, Broad nasal tip, Hypoplasia of ...	OMIM:129900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndactyly, Microretrogn...	OMIM:270400
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Depressed nasal bridge, Micrognathia, Pectus excava...	OMIM:614437
Moderate Hemophilia A	Cartilage destruction, Hip contracture	ORPHA:169805
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes, Sudden episodic apnea, Elbow flexion contracture	ORPHA:468699
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal bridge, Pectus e...	ORPHA:464306
Adult-Onset Still Disease	Cartilage destruction, Recurrent pharyngitis, Restrictive ventilatory defect	ORPHA:829
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Sinusitis, Anteverted nares, Cough	ORPHA:238468
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Short nose, Micromelia, Short neck	OMIM:200995
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Swelling of proximal interphalangeal joints, Pulmonary embolism, Dyspnea, A...	ORPHA:3260
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxill...	OMIM:305100
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Japanese Encephalitis	Respiratory distress, Elbow flexion contracture, Distal upper limb muscle weakness, Respiratory p...	ORPHA:79139
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Shoulder girdle muscle weakness	ORPHA:206436
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long fingers, 2-...	ORPHA:3455
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Sacral dimple, Wide nose, Abnormal dental enamel morphology, Micrognathia, ...	ORPHA:2556
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Abnormality of the upper limb	ORPHA:36234
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Wrist flexion contracture, Talipes equinovarus	OMIM:618733
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Partial duplication of thumb phalanx, H...	OMIM:164210
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension, Abnormal vertebral morphology	ORPHA:210122
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Peters Plus Syndrome	Sacral dimple, Toe syndactyly, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Short neck...	ORPHA:709
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Kid Syndrome	Coxa valga, Equinus calcaneus, Patellar hypoplasia, Palmoplantar keratoderma, Delayed pubic bone ...	ORPHA:477
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Schisis Association	Micromelia	ORPHA:63862
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Branchiooculofacial Syndrome	Depressed nasal bridge, Single transverse palmar crease, Proximal placement of thumb, Micrognathi...	OMIM:113620
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Rodrigues Blindness	Narrow nasal bridge, Nasal flaring	OMIM:268320
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Camptodact...	OMIM:601803
Lujo Hemorrhagic Fever	Respiratory distress, Nonproductive cough, Rhinitis, Crackles	ORPHA:319213
Generalized Arterial Calcification Of Infancy	Respiratory distress, Calcification of the auricular cartilage, Stippled calcification of the sho...	ORPHA:51608
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur...	ORPHA:340
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Pulmonary arterial hypertension	ORPHA:2396
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Alkaptonuria	Cartilage destruction, Intervertebral disk calcification, Calcification of cartilage, Abnormality...	ORPHA:56
Listeriosis	Back pain, Respiratory distress, Miscarriage, Pneumonia, Respiratory failure	ORPHA:533
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short...	OMIM:218330
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Scimitar Syndrome	Respiratory distress, Pneumothorax, Abnormality of the vertebral column, Cough, Pulmonary arteria...	ORPHA:185
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Complete Atrioventricular Septal Defect	Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a...	ORPHA:1329
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Autoamputation of digits	OMIM:256810
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypoxemia, Pul...	ORPHA:97214
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Mandibular prognathia, Broad hallux, Arachnodactyly, Delayed...	ORPHA:261537
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia...	OMIM:300373
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:79282
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Mandibular prognathia, Broad hallux, Delayed eruption of tee...	ORPHA:2152
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough	ORPHA:537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Calcaneovalgus deformity, Pectus carinatum, Long hallux, Long toe, Syndact...	ORPHA:261552
Pmm2-Cdg	Mandibular prognathia, Respiratory distress, Anteverted nares, Prominent nasal bridge, Kyphoscoli...	ORPHA:79318
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo...	OMIM:214800
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Prominent nose, Respiratory acidosis, Narrow...	OMIM:614748
Reactive Arthritis	Cartilage destruction, Respiratory insufficiency	ORPHA:29207
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Alström Syndrome	Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Kyphosis, Short toe, Recur...	ORPHA:64
Gitelman Syndrome	Respiratory distress	ORPHA:358
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Cervical ribs	ORPHA:2255
Axenfeld-Rieger Syndrome, Type 1	Hypoplasia of the maxilla, Wide nasal bridge	OMIM:180500
Plague	Respiratory distress, Abnormality of the elbow, Acute infectious pneumonia	ORPHA:707
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Leptospirosis	Respiratory distress, Pleural effusion, Cough	ORPHA:509

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Chst11

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Chst11.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Chst11^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Chst11^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Chst11^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Chst11^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Chst11^{tm1a(KOMP)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Chst11^{tm1a(KOMP)Wtsi}	PMC5159622

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
Chst11^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Chst11^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Chst11^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Chst11 MGI:1927166

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

DSS Histology

X-ray

X-ray

X-ray

Eye Morphology

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Chst11 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 19.0 Data