Gene Summary

1810041M12Rik,  C030019K18Rik,  4933427L07Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
short tibia Dymem1(IMPC)Tcp HOM Early adult 0.00
abnormal bone structure Dymem1(IMPC)Tcp HOM Early adult 4.37×10-12
decreased bone mineral content Dymem1(IMPC)Tcp HOM Early adult 2.58×10-07
decreased circulating triglyceride level Dymem1(IMPC)Tcp HOM Early adult 4.52×10-10
abnormal seminal vesicle morphology Dymem1(IMPC)Tcp HOM Early adult 0.00
increased grip strength Dymem1(IMPC)Tcp HOM Early adult 9.38×10-05
increased mean corpuscular volume Dymem1(IMPC)Tcp HOM Early adult 4.63×10-06
decreased prepulse inhibition Dymem1(IMPC)Tcp HOM   Early adult 1.66×10-05
preweaning lethality, incomplete penetrance Dymem1(IMPC)Tcp HOM   Early adult 0.00
decreased body length Dymem1(IMPC)Tcp HOM Early adult 1.24×10-21
increased circulating alanine transaminase level Dymem1(IMPC)Tcp HOM Early adult 4.06×10-26
decreased circulating HDL cholesterol level Dymem1(IMPC)Tcp HOM Early adult 1.85×10-07
decreased circulating cholesterol level Dymem1(IMPC)Tcp HOM Early adult 9.46×10-11
enlarged urinary bladder Dymem1(IMPC)Tcp HOM Early adult 0.00
increased circulating aspartate transaminase level Dymem1(IMPC)Tcp HOM Early adult 5.96×10-14
increased circulating alkaline phosphatase level Dymem1(IMPC)Tcp HOM Early adult 6.36×10-18
increased startle reflex Dymem1(IMPC)Tcp HOM Early adult 3.35×10-07
abnormal joint morphology Dymem1(IMPC)Tcp HOM Early adult 8.74×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

104 Images

Eye Morphology

Images Slit Lamp

15 Images



7 Images


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection


9 Images

Human diseases caused by Dym 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.

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

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

Disease Similarity of
Matching phenotypes Source
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hip dislocation, Pseudoepiphyses of hand bones, Butterfly vertebrae, Short neck, Talipes equinova... OMIM:613330
Lethal Kniest-Like Dysplasia
Abnormality of the ischium, Mesomelic/rhizomelic limb shortening, Hypoplastic ilia, Short ribs, W... ORPHA:2347
Metatropic Dysplasia
Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Metaphyseal irregularity, Genu valg... OMIM:156530
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Coxa valga, Narrow pelvis bone, Midface retrusion, Short palm, Short toe... OMIM:250215
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Midface retrusion, Shor... OMIM:118651
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Small for gestational age, S... OMIM:222600
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Hydronephrosis, Mandibular prognathia, High palate, Abnormality of dental mo... ORPHA:3079
Short diaphyses, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebr... OMIM:224300
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypop... OMIM:619598
Tapered finger, Hypoplastic pubic bone, Abnormally ossified vertebrae, Macrocephaly, Hypoplastic ... ORPHA:2746
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Short humerus OMIM:600121
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Short femoral neck, Coxa vara, Hypoplasia of the odontoid p... OMIM:184255
Short phalanx of finger, Severe platyspondyly, Hypoplastic vertebral bodies, Short neck, Short pa... OMIM:258480
Axial Spondylometaphyseal Dysplasia
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... ORPHA:168549
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar dislocation, Kyphosis, Hypodonti... ORPHA:2916
Irregular vertebral endplates, Delayed eruption of teeth, Macrocephaly, Coarse metaphyseal trabec... ORPHA:1782
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Midface retrusion... OMIM:108720
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Toe syndactyly, Cachexia, Biparietal narrowing, Pes cavus, Short neck, S... ORPHA:85293
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Midface re... OMIM:269250
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short femoral neck, Swan neck-like defo... OMIM:616716
Femoral-Facial Syndrome
Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus... ORPHA:1988
Three M Syndrome 1
Short 5th finger, Hip dislocation, Pectus excavatum, Spina bifida occulta, Short neck, Scapular w... OMIM:273750
Radial club hand, Renal hypoplasia/aplasia, Micrognathia, Biparietal narrowing, Short philtrum, M... ORPHA:3305
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Bell-shaped thorax, Short ribs, Abnormal pelvic girdle bone morpholog... ORPHA:1803
Seckel Syndrome 4
11 pairs of ribs, Retrognathia, Decreased body weight, Severe failure to thrive, Microcephaly, St... OMIM:613676
Acrodysostosis 1 With Or Without Hormone Resistance
Short phalanx of finger, Brachycephaly, Delayed eruption of teeth, Epiphyseal stippling, Midface ... OMIM:101800
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radius, Butterf... OMIM:607143
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Rhizomelia, Short ... OMIM:608940
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Hyperlordosis, Narrow palate, Finger syndactyly, Micrognathia, Synostosi... ORPHA:1323
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Mandibular prognathia, Rhizomelia, Coxa vara, Short metacarpal, Brach... ORPHA:2831
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Coxa vara, Short metacarpal, Platyspondyly, Brachydactyly, Short metatarsal, Deformed... OMIM:601438
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Narrow chest, Diaphyseal thickening, Mac... ORPHA:3144
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Thoracic hypoplasia, Hypoplastic ilia, Severe platyspondyly, Short grea... OMIM:187600
Spinal Dysplasia, Anhalt Type
Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Coxa vara, Spinal dysp... OMIM:601344
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Midface retrusion, Limb und... OMIM:151210
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micr... OMIM:215140
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Limb undergrowth, Short neck, Narrow greater sciatic notch, Lumbar hyperlor... OMIM:602557
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Narrow mouth,... OMIM:612447
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Three M Syndrome 2
Short 5th finger, Delayed eruption of teeth, Short neck, Scapular winging, Lumbar hyperlordosis, ... OMIM:612921
Caudal Regression Syndrome
Vesicoureteral reflux, Talipes equinovarus, Missing ribs, Renal agenesis, Abnormal pelvic girdle ... ORPHA:3027
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... OMIM:171480
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Elbow disl... ORPHA:90652
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Platyspondyly, Flared metaphysis, Wide-cu... OMIM:187601
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Brachycephaly, Thoracic hypoplasia, Micrognathia, Short femur, Limb undergrowth, Short neck, Clef... OMIM:616897
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Abnormality of the wrist, Hypoplasia of penis, Split hand, Microcephaly... ORPHA:2491
Toluene Embryopathy
Tapered finger, Micrognathia, Biparietal narrowing, Microcephaly, Smooth philtrum, Abnormal local... ORPHA:1920
Atelosteogenesis Type Ii
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... ORPHA:56304
Achondrogenesis Type 2
Unossified sacrum, Pierre-Robin sequence, Hypoplastic ilia, Short long bone, Short ribs, Absent v... ORPHA:93296
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... OMIM:618961
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Camptodactyly of finger, Tapered finger, Delayed eruption of teeth, Flat... OMIM:612350
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Short... OMIM:187760
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Anterior wedging of T11, Long philtrum, Short 1st ... OMIM:164745
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Horizontal ribs, Short ribs, Narrow chest, Postaxial foot polydactyly, Lateral clavicle hook, Ace... OMIM:617405
Leri-Weill Dyschondrosteosis
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... OMIM:127300
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Small cervical vertebral bodies, Short 1st metacarpal, Widely ... OMIM:135100
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... ORPHA:2019
Muenke Syndrome
Brachycephaly, Dental malocclusion, Short middle phalanx of toe, Plagiocephaly, High palate, Capi... OMIM:602849
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Bone Dysplasia, Lethal Holmgren Type
Bell-shaped thorax, Rhizomelia, Weight loss, Short ribs, Abnormality of the elbow, Narrow chest, ... ORPHA:1842
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Narrow g... OMIM:228520
Thoracic hypoplasia, Severe platyspondyly, Spinal stenosis with reduced interpedicular distance, ... OMIM:100800
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Lateral cla... ORPHA:1801
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, 2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Micrognathia, R... OMIM:617866
Pallister-Hall-Like Syndrome
Short ribs, Toe syndactyly, Micrognathia, Renal dysplasia, Macrocephaly, Hip dislocation, Postaxi... OMIM:241800
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Brachycephaly, Hallux valgus, Toe syndactyly, Midface retrusion, Pectus ... ORPHA:1327
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Kyphosis, Abnormality of the elbow, Turricephaly, Vertebral segmentation defec... ORPHA:1005
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Rhizomelia, Lumbar hyperlordosis, Micrognathia, Hip dislocation, Short humerus, Hypo... OMIM:602471
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ... OMIM:614091
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Intention tremor, Osteopenia, He... OMIM:610539
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Long philtrum, Short ribs, Hypoplasia of ... OMIM:617895
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, High palate, Rhizomelia, Micrognathia, Epiphyseal stippling, Short... OMIM:222765
Isotretinoin Syndrome
Sacral dimple, Micrognathia, Biparietal narrowing, Spina bifida occulta, Cleft palate ORPHA:2305
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Kyphosis, Hip dysplasia, Scol... ORPHA:1858
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short phalanx of finger, Decreased body weight, Short metacarpal, Broad phalanx... OMIM:618724
Holoprosencephaly-Craniosynostosis Syndrome
Brachycephaly, Coxa valga, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic vertebral b... ORPHA:2163
Diastrophic Dysplasia
Camptodactyly of finger, Micrognathia, Midface retrusion, Elbow dislocation, Hypoplastic cervical... ORPHA:628
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Coronal craniosynostosis, Hypoplastic vertebral bodies, Short distal phalanx of finge... OMIM:601370
Autosomal Dominant Omodysplasia
Rhizomelia, Patellar dislocation, Short 1st metacarpal, Long philtrum, Micrognathia, Hypoplasia o... ORPHA:93328
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Broad foot, Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregu... OMIM:250420
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... ORPHA:240
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Renal dysplasia, Lateral clavicle hook, Cleft... OMIM:613091
Spondyloepiphyseal Dysplasia Congenita
Increased head circumference, Micrognathia, Short femur, Aplasia/hypoplasia involving bones of th... ORPHA:94068
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Bell-shaped thorax, Metaphyseal cupping, Severe platyspondyly, Deep philtr... OMIM:613320
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Short distal phalanx of finger, Dental malocclusion, Patchy distortion of ver... OMIM:155050
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... ORPHA:3266
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Short ribs, Short long bone, Thoracic dyspl... OMIM:615630
Hypophosphatasia, Infantile
Vertebral clefting, Phosphoethanolaminuria, Metaphyseal cupping, Elevated urine pyrophosphate, Sh... OMIM:241500
Rubinstein-Taybi Syndrome 2
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, Short first metatars... OMIM:613684
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, 2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short ha... OMIM:186500
Frontometaphyseal Dysplasia
Short diaphyses, Short phalanx of finger, Camptodactyly of finger, Wrist flexion contracture, Mic... ORPHA:1826
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Non-midline cleft lip, Abnormality of the philtrum, Renal hypoplasia/aplasia, Biparietal narrowin... ORPHA:1770
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Brachycephaly, Ankle clonus, High palate, Long philtrum, Deep philtrum, Hydroureter, Macrocephaly... OMIM:615398
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Thickened calvaria, Long philtrum, Short long bone, Flattened femoral ... ORPHA:79255
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Glossoptosis, Micrognathia, Midface retrusion, Femoral bow... ORPHA:440354
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
Dental malocclusion, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced teeth, Hypopla... ORPHA:61
Gurrieri Syndrome
Hypoplastic iliac wing, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... OMIM:601187
Osteogenesis Imperfecta, Type X
Thoracic hypoplasia, Micrognathia, Midface retrusion, Short femur, Fibular bowing, Nephrolithiasi... OMIM:613848
Metatropic Dysplasia
Camptodactyly of finger, Kyphosis, Narrow chest, Halberd-shaped pelvis, Clinodactyly of the 5th f... ORPHA:2635
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl... ORPHA:93323
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Short ribs, Missing ribs, Pectus excavatum, Scoliosis, Pseudoarthrosis OMIM:618155
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Seckel Syndrome 1
Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated ra... OMIM:210600
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Thoracic hypoplasia, Renal cortical cysts, Renal dysplasia, Micrognathia, Early ossification of c... ORPHA:397715
Acrootoocular Syndrome
Delayed eruption of teeth, Grayish enamel, Micrognathia, Pectus excavatum, Cutaneous syndactyly, ... ORPHA:2980
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Mandibular prognathia, Tapered finger, High palate, Relative macrocephaly, L... OMIM:618292
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Wide anterior fontanel, Kyphosis, Abnormality of the kidney, Macrocephaly, Shor... ORPHA:1860
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... OMIM:309350
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... ORPHA:2669
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Thoraci... ORPHA:1505
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Select... OMIM:305620
Mosaic Trisomy 9
Camptodactyly of finger, Renal dysplasia, Micrognathia, Biparietal narrowing, Hip dislocation, Pr... ORPHA:99776
Richieri Costa-Da Silva Syndrome
Genu valgum, Vertebral wedging, Metatarsus adductus, Kyphoscoliosis, Narrow mouth, Short neck, Di... ORPHA:3101
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... OMIM:609052
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Flared metaphysis,... OMIM:215045
Ring Chromosome 8 Syndrome
Frontal bossing, Abnormal palate morphology, Abnormality of the ureter, Deviation of finger, Hydr... ORPHA:1450
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Lumbar h... ORPHA:93315
Kyphomelic Dysplasia
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Talipes equi... OMIM:211350
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Micrognathia, Hip dislocatio... OMIM:119600
Van Den Ende-Gupta Syndrome
Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slender metacarpals, Pect... OMIM:600920
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Rhizomelia, Short long bone, ... ORPHA:1190
Achondrogenesis, Type Ii
Hypoplastic iliac wing, Horizontal ribs, Brachycephaly, Short tubular bones of the hand, Long phi... OMIM:200610
Craniosynostosis 3
Left unicoronal synostosis, Sagittal craniosynostosis, Dental malocclusion, Hallux valgus, Bicoro... OMIM:615314
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Relative macrocephaly, Short humerus, Macrocephaly, Hydroxyprolinuria, Barrel-shaped ch... OMIM:239000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Horizontal ribs, Bifid tongue, Hypoplastic facial bones, Midface retrusion, Unicoron... OMIM:616300
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Abnormal pelvic ... OMIM:144750
8P23.1 Microdeletion Syndrome
Enlarged thorax, Tapered finger, High palate, Weight loss, Micrognathia, Biparietal narrowing, Hy... ORPHA:251071
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Vertebral segmentation defect, Macrocephaly, Missing ribs, Posterior... ORPHA:1797
Poland Syndrome
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Vesicoureteral reflux, Sh... ORPHA:2911
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal fo... ORPHA:93307
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, M... ORPHA:93333
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... OMIM:620058
Gm1-Gangliosidosis, Type Ii
Coxa valga, Hypoplastic vertebral bodies, Failure to thrive, Limb undergrowth, Narrow mouth, Scol... OMIM:230600
Orofaciodigital Syndrome Type 6
Micrognathia, Biparietal narrowing, Abnormal oral frenulum morphology, Cleft palate, Hand polydac... ORPHA:2754
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Short ribs, Short long bone, Macrocephaly, Thoracic dysplasia, Femoral bowing, Syndactyly, Failur... OMIM:615503
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Patellar dislocation, Coxa vara, High palate, Micrognathia... OMIM:147891
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Talipes equinovarus, Be... OMIM:200600
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... OMIM:142900
Mucopolysaccharidosis, Type Iiid
Ovoid thoracolumbar vertebrae, Heparan sulfate excretion in urine, Thickened ribs, Wide mouth, Th... OMIM:252940
Robinow Syndrome, Autosomal Dominant 2
Cleft soft palate, Micrognathia, Camptodactyly, Midface retrusion, Cleft palate, Gingival overgro... OMIM:616331
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Micrognathia, Midface retrusion, Limb undergrowth, Short neck, Lacunar halos... OMIM:256050
Teebi-Shaltout Syndrome
Camptodactyly, Metatarsus adductus, Pectus excavatum, Smooth philtrum, Cleft palate, Talipes equi... OMIM:272950
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Microcephaly, Hydronephrosis DECIPHER:70
1Q44 Microdeletion Syndrome
Vesicoureteral reflux, High palate, Micrognathia, Biparietal narrowing, Frontal bossing, Scoliosi... ORPHA:238769
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Kyphoscoliosis, Hallux valgus, Microcephaly OMIM:615541
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... OMIM:609324
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Hyperlordosis, Progressive leg bowing, Short lower limbs, Hip dysplasia, Scoliosis, M... ORPHA:2501
Meier-Gorlin Syndrome 1
Coxa valga, Micrognathia, Microdontia, Camptodactyly, Elbow dislocation, Absent sternal ossificat... OMIM:224690
Cono-Spondylar Dysplasia
Kyphosis, Short 4th toe, Short lower limbs, Midface retrusion, Cone-shaped epiphyses of the phala... ORPHA:420794
Rudiger Syndrome
Ureterovesical stenosis, Short digit, High axial triradius, Frontal bossing, Single transverse pa... OMIM:268650
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, High palate, Wide anterior fontanel, Absent f... OMIM:201170
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Symphalangism affecting the phalanges of the hand, Long philtrum, Wide mouth, Bipa... ORPHA:1292
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Hyperlordosis, Thoracic hypoplasia, Sho... ORPHA:93352
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Decreased body weight, Plagiocephaly, Microg... OMIM:618265
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Joint contracture of the hand, Short ribs, Short long bone... OMIM:224400
Harrod Syndrome
Dental malocclusion, Multicystic kidney dysplasia, High palate, Kyphosis, Abnormal pelvic girdle ... ORPHA:2115
Short Stature, Brussels Type
Calcification of cartilage, Macrocephaly, Microretrognathia, Horseshoe kidney, Narrow chest, Dela... ORPHA:2867
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Plagiocephaly, S... ORPHA:2021
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... ORPHA:232
Smith-Mccort Dysplasia 1
Short phalanx of finger, Hypoplastic acetabulae, Hypoplastic facial bones, Beaking of vertebral b... OMIM:607326
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Biparietal narrowing, Clinodactyly of the 5th finger, Microretrognathia, Hypoplasi... ORPHA:228396
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... ORPHA:2484
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... ORPHA:66637
Larsen-Like Syndrome
Brachycephaly, Dental malocclusion, Wide anterior fontanel, Macrocephaly, Clinodactyly of the 5th... OMIM:608545
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib ga... OMIM:117650
Ellis-Van Creveld Syndrome
Hypoplastic iliac wing, Horizontal ribs, Genu valgum, Cleft upper lip, Capitate-hamate fusion, Sh... OMIM:225500
Micrognathia, Midface retrusion, Hypoplastic iliac wing, Frontal bossing, Mesomelia, Carious teet... ORPHA:763
Thrombocytopenia-Absent Radius Syndrome
Coxa valga, Patellar dislocation, Micrognathia, Hip dislocation, Cervical ribs, Phocomelia, Cleft... ORPHA:3320
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... ORPHA:2839
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radius, Aplasia/hypoplasia in... ORPHA:75508
3Q29 Microduplication Syndrome
High palate, Deep philtrum, Toe syndactyly, Camptodactyly of toe, Biparietal narrowing, Macroceph... ORPHA:251038
15Q Overgrowth Syndrome
Ureterovesical stenosis, Micrognathia, Bifid uvula, Overlapping toe, Contracture of the proximal ... ORPHA:314585
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Non-Distal Monosomy 10Q
Biparietal narrowing, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases,... ORPHA:1581
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long bone, Micrognathia, Anisospondyl... ORPHA:1865
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Hypoplasia of the odontoid process, Cone-shaped epiphyses of the phalanges of the han... ORPHA:85172
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... OMIM:614669
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Coxa valga, Thoracic hypoplasia, Micrognathia, Flattened e... OMIM:618363
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... ORPHA:174
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... OMIM:619217
Metaphyseal Chondrodysplasia, Jansen Type
Knee flexion contracture, Brachycephaly, Metaphyseal cupping, Hip contracture, Short ribs, Short ... OMIM:156400
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate OMIM:300484
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... OMIM:271530
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Macrocephaly, Distal s... OMIM:300863
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short ribs, Micromelia, Narrow c... OMIM:600972
Anauxetic Dysplasia 2
Hyperlordosis, Coxa valga, Coxa vara, Short femoral neck, Posterior wedging of vertebral bodies, ... OMIM:617396
Occipital Horn Syndrome
Coxa valga, Short humerus, Pelvic bone exostoses, Pectus excavatum, Limited elbow extension, Genu... OMIM:304150
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... ORPHA:1106
Oculodentodigital Dysplasia, Autosomal Recessive
Brachycephaly, Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnorm... OMIM:257850
Genu varum, Short femoral neck, Short long bone, Lumbar hyperlordosis, Macrocephaly, Brachydactyl... OMIM:146000
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Retrognathia, High palate, Kyphosis, Micrognathia, Camptodactyly, Short neck, R... OMIM:618393
Codas Syndrome
Short phalanx of finger, Enamel hypoplasia, Genu valgum, Absent epiphyses, Short metacarpal, Lumb... OMIM:600373
16Q24.3 Microdeletion Syndrome
High palate, Long philtrum, Kyphosis, Wide mouth, Micrognathia, Hip dysplasia, Biparietal narrowi... ORPHA:261250
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Mandibular prognathia, Prominent interdigital folds, Short first metatarsal,... OMIM:601957
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Vesicouret... OMIM:607323
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Radial club hand, Long philtrum, Deep philtrum, Asymmetric radia... ORPHA:2878
Craniosynostosis 1
Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Turricephaly, Biparietal narrowing, Dolicho... OMIM:123100
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Short long bone, Short ribs, Craniosynostosis, Irregular carpal bones, Car... OMIM:252600
Dyggve-Melchior-Clausen Disease
Broad foot, Hypoplastic facial bones, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of v... OMIM:223800
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Robinow Syndrome, Autosomal Recessive 1
Bifid tongue, Micrognathia, Midface retrusion, Pectus excavatum, Dislocated radial head, Radial d... OMIM:268310
Monosomy 18Q
Mandibular prognathia, Tapered finger, Abnormal palmar dermatoglyphics, High palate, Wide mouth, ... ORPHA:1600
Acrodysostosis With Multiple Hormone Resistance
Short phalanx of finger, Short toe, Mandibular prognathia, Low urinary cyclic AMP response to PTH... ORPHA:280651
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... OMIM:200500
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Bifid tongue, Micrognathia, Biparietal narrowing, Hip dislocation, Short neck... ORPHA:818
High palate, Long philtrum, Toe syndactyly, Micrognathia, Biparietal narrowing, Hypoplasia of pen... ORPHA:46059
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Lig4 Syndrome
Brachycephaly, Micrognathia, Biparietal narrowing, Clinodactyly of the 5th finger, Hypoplasia of ... ORPHA:99812
Mulibrey Nanism
Nephroblastoma, Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Hypodontia, ... OMIM:253250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... OMIM:250220
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... OMIM:601668
Atelosteogenesis Type Iii
Short tibia, Thoracic hypoplasia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones... ORPHA:56305
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Platyspondyly, Ab... OMIM:618641
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short phalanx of finger, Thoracic hypoplasia, Renal dysplasia, Micrognathia, Microdontia, Bifid u... OMIM:266920
Nail-Patella Syndrome
Biceps aplasia, Patellar dislocation, Triceps aplasia, Pectus excavatum, Absent distal interphala... OMIM:161200
Momo Syndrome
Short sternum, Brachycephaly, Thick upper lip vermilion, Dental malocclusion, High palate, Large ... ORPHA:2563
Mesomelia-Synostoses Syndrome
Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral frenulum morphology,... ORPHA:2496
Cranioectodermal Dysplasia 1
Stage 1 chronic kidney disease, Microdontia, Pectus excavatum, Everted lower lip vermilion, Radia... OMIM:218330
Orofaciodigital Syndrome Type 10
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Short neck, Hypoplasia of pr... ORPHA:2756
Weaver Syndrome
Coxa valga, Camptodactyly, Metatarsus adductus, Pes cavus, Overlapping toe, Radial deviation of f... OMIM:277590
Cardiofaciocutaneous Syndrome
Genu valgum, High palate, Long philtrum, Biparietal narrowing, Macrocephaly, Deep palmar crease, ... ORPHA:1340
Basal Cell Nevus Syndrome 1
Palmar pits, Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Cleft palate, ... OMIM:109400
Joubert Syndrome With Renal Defect
Biparietal narrowing, Hand polydactyly, Nephropathy, Scoliosis, Cleft palate, Renal insufficiency... ORPHA:220497
Trichorhinophalangeal Syndrome, Type I
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Mic... OMIM:190350
Pyle Disease
Genu valgum, Thickened calvaria, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erup... OMIM:265900
Prieto Syndrome
11 pairs of ribs, Retrognathia, Coxa valga, Patellar dislocation, Patellar subluxation, Clinodact... OMIM:309610
Mcdonough Syndrome
Dental malocclusion, Mandibular prognathia, Kyphosis, Micrognathia, Cachexia, Short philtrum, Pec... ORPHA:2471
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Micrognathia, Microdontia, Broad hallux, Short neck, Slender... ORPHA:251028
Potocki-Lupski Syndrome
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Small for gestational age, M... OMIM:610883
Seckel Syndrome 5
11 pairs of ribs, Enamel hypoplasia, Retrognathia, High palate, Selective tooth agenesis, Microgn... OMIM:613823
Femoral-Facial Syndrome
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Micrognathia, Aplasia/hypoplasia... OMIM:134780
Joubert Syndrome With Oculorenal Defect
Foot polydactyly, Biparietal narrowing, Hand polydactyly, Nephropathy, Scoliosis, Renal insuffici... ORPHA:2318
Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Macrocephaly, Benign Familial
Long philtrum, Macrocephaly, Biparietal narrowing, Dolichocephaly, Frontal bossing OMIM:153470
Microcephaly-Micromelia Syndrome
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... OMIM:251230
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly, Coxa valga, Micrognathia, Broad hallux, Short neck, Short palm, Hip dysplasia, Nar... OMIM:620073
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Brachycephaly, Thoracic dysplasia, Median cleft lip, Lateral clavicle hook, Post... OMIM:263520
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... OMIM:617719
Fetal Alcohol Syndrome
Non-midline cleft lip, Vertebral segmentation defect, Micrognathia, Biparietal narrowing, Microdo... ORPHA:1915
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Branchioskeletogenital Syndrome
Brachycephaly, Bifid uvula, Pectus excavatum, Short neck, Amelia involving the lower limbs, Abnor... ORPHA:1299
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Urethral atresia, Enlarged kidney, Hand polydactyly, Abnormal vertebral morphology... OMIM:314390
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathi... OMIM:602418
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... ORPHA:3202
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Biparietal narrowing, Clinodactyly of the 5th finger, Renal cyst, G... ORPHA:2031
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Broad foot, Thoracic dysplasia, Median cleft lip, Limb undergrowth, Short neck, ... OMIM:269860
Meier-Gorlin Syndrome 3
Genu varum, Short thorax, Patellar hypoplasia, Coxa vara, Patellar aplasia, Short ribs, Micrognat... OMIM:613803
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Micrognathia, Camptodactyly, Butterfly vertebrae, Midface retrusion, P... OMIM:611209
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Enamel hypoplasia, Tapered finger, Plagiocephaly, Wide mouth, Widely spaced ... OMIM:619293
15Q14 Microdeletion Syndrome
Long philtrum, Kyphosis, Biparietal narrowing, Short philtrum, Scoliosis, Smooth philtrum, Microc... ORPHA:261190
Orofaciodigital Syndrome Ix
Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Micr... OMIM:258865
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Horizontal ribs, Thoracic dysplasia, Early ossification of capital femor... OMIM:208500
Joubert Syndrome
Foot polydactyly, Biparietal narrowing, Hand polydactyly, Scoliosis, Abnormal form of the vertebr... ORPHA:475
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Short 5th metacarpal, High palate, Prominent sternum, Pierre-Robin s... OMIM:617877
Campomelic Dysplasia
Short phalanx of finger, Irregular dentition, Thoracic hypoplasia, Hallux valgus, Micrognathia, H... OMIM:114290
Cdags Syndrome
Brachycephaly, Sagittal craniosynostosis, Parietal foramina, Kyphosis, Short ribs, Coronal cranio... OMIM:603116
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Micrognathia, Foot po... OMIM:258860
Ivic Syndrome
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta... OMIM:147750
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Hypoplastic vertebral bodies, Frontal bossing, Short neck, Scoliosis, A... OMIM:230500
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Abnormal thorax morphology, Hip dislocation, Talipes equin... OMIM:605274
Momo Syndrome
Short sternum, Brachycephaly, Dental malocclusion, High palate, Large hands, Long philtrum, Delay... OMIM:157980
Spondyloepiphyseal Dysplasia Tarda
Flattened femoral head, Short neck, Decreased cervical spine mobility, Cleft palate, Abnormal sho... ORPHA:93284
Primary Pulmonary Hypoplasia
Patellar hypoplasia, Micrognathia, Failure to thrive, Ureteral stenosis, Microcephaly, Cleft palate ORPHA:2257
Carpenter Syndrome 1
Brachycephaly, Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, Flared... OMIM:201000
Hand-Foot-Genital Syndrome
Pseudoepiphyses, Short 5th finger, Shortening of all middle phalanges of the fingers, Short hallu... OMIM:140000
Smith-Mccort Dysplasia 2
Short phalanx of finger, Decreased body weight, Flattened femoral head, Short neck, Flattened epi... OMIM:615222
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Vesicoureteral reflux, Vertebral... ORPHA:959
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Peho Syndrome
Pedal edema, Tapered finger, Biparietal narrowing, Midface retrusion, Abnormal upper lip morpholo... ORPHA:2836
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... OMIM:601559
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad foot, Genu valgum, Hypoplastic sacrum, Metaphyseal dysplasia, Upper limb undergrowth, Capit... OMIM:271650
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Congenital hip dislocation... OMIM:619719
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Hip contracture, High palate, Short ribs, Elbow flexion contracture, Ky... ORPHA:1145
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... OMIM:616689
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Horizontal ribs, Brachycephaly, Micrognathia, Lateral clavicle hook, Short neck, Cle... OMIM:617925
X-Linked Intellectual Disability, Schimke Type
Knee flexion contracture, Vesicoureteral reflux, Hip contracture, High palate, Elbow flexion cont... ORPHA:85285
Joubert Syndrome With Ocular Defect
Foot polydactyly, Biparietal narrowing, Hand polydactyly, Abnormal vertebral morphology, Scoliosi... ORPHA:220493
Image Syndrome
Frontal bossing, Hypospadias, Micromelia, Metaphyseal dysplasia, Hydronephrosis ORPHA:85173
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Vertebral hypoplasia, Micrognathia, Epiphyseal stippling, 2-5 finger syndactyly, Absent toe, Shor... OMIM:308050
Schinzel-Giedion Midface Retraction Syndrome
Midface retrusion, Thickened cortex of long bones, Short neck, Postaxial hand polydactyly, Talipe... OMIM:269150
Cri-Du-Chat Syndrome
Bifid uvula, Metatarsus adductus, Short neck, Orofacial cleft, Microcephaly, Short metacarpal, Sm... OMIM:123450
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Campomelic Dysplasia
11 pairs of ribs, Hydronephrosis, Kyphosis, Short long bone, Micrognathia, Hypoplastic inferior i... ORPHA:140
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Mesom... ORPHA:97360
Hand-Foot-Genital Syndrome
Sacral dimple, Vesicoureteral reflux, Short first metatarsal, Short 1st metacarpal, Recurrent uri... ORPHA:2438
Odontochondrodysplasia 1
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Nephronophthisis, Genu rec... OMIM:184260
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Fixed elbow flexi... ORPHA:166016
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hyperextensibility of the finger joints, Delayed eruption of teeth, Widely spaced teeth... OMIM:619797
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Pear-shaped vertebrae, Rhizomelia, Short femoral neck, Coxa vara, Medial widening of ... OMIM:183849
Macdermot-Winter Syndrome
Camptodactyly of finger, Microcephaly, Hydronephrosis OMIM:247990
Pseudodiastrophic Dysplasia
Brachycephaly, Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Camptodactyly, Midfa... OMIM:264180
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Microgna... OMIM:268305
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femo... OMIM:226900
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Recombinant Chromosome 8 Syndrome
Brachycephaly, Hydronephrosis, Joint contracture of the hand, Thick lower lip vermilion, Microgna... OMIM:179613
Orofaciodigital Syndrome Vi
Renal dysplasia, Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial... OMIM:277170
C Syndrome
Toe syndactyly, Micrognathia, Biparietal narrowing, Pectus excavatum, Dislocated radial head, Sho... ORPHA:1308
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Rhizomelia, Vertebral segmentation defect, Unilateral renal agenesis, Frontal b... OMIM:617661
Blomstrand Lethal Chondrodysplasia
Metaphyseal cupping, Aplastic clavicle, Rhizomelia, Short metacarpal, Short ribs, Short thorax, M... ORPHA:50945
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Vertebral segmentation defect, Abnor... ORPHA:1570
Cerebellar-Facial-Dental Syndrome
Dental malocclusion, Foot joint contracture, Tapered finger, Long philtrum, Macrodontia of perman... ORPHA:444072
Cousin Syndrome
2-3 toe syndactyly, Anterior rounding of vertebral bodies, Wrist flexion contracture, Humeroradia... OMIM:260660
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Bilateral cleft lip, Short femur, Bilateral cleft palate, Sco... OMIM:601357
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Dyschondrosteosis And Nephritis
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis, Madelung deformity OMIM:127350
Paget Disease Of Bone 2, Early-Onset
Hydroxyprolinuria, Femoral bowing, Short femur, Osteosclerosis of the ulna, Premature loss of tee... OMIM:602080
Horizontal ribs, Enlarged thorax, Short thorax, Unossified sacrum, Increased head circumference, ... ORPHA:3003
Kabuki Syndrome
Vertebral clefting, Lip pit, Short 5th finger, Microdontia, Hip dislocation, Butterfly vertebrae,... ORPHA:2322
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Micrognathia, Bifid uvula, Camptodactyly, Fibular aplasia, Pectus exc... OMIM:300373
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Rhizomelia,... ORPHA:3098
Van Maldergem Syndrome 1
Irregular dentition, Short 4th metacarpal, Micrognathia, Camptodactyly, Midface retrusion, Short ... OMIM:601390
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial head, Pectus excavatum, Later... OMIM:182212
Hallermann-Streiff Syndrome
Brachycephaly, Selective tooth agenesis, Micrognathia, Pectus excavatum, Everted lower lip vermil... OMIM:234100
Schwartz-Jampel Syndrome
Metatarsus valgus, Wrist flexion contracture, Decreased body weight, Coxa valga, Micrognathia, Ca... ORPHA:800
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, High, narrow palate, Brachydactyly OMIM:619692
Lower Limb Malformation-Hypospadias Syndrome
Sacral dimple, Abnormality of tibia morphology, Abnormality of the ureter, Hypospadias, Short nec... ORPHA:2487
Atelosteogenesis, Type Iii
Micrognathia, Midface retrusion, Prominent occiput, Elbow dislocation, Short neck, Cleft palate, ... OMIM:108721
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... OMIM:246570
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip disloc... OMIM:200980
Hyperparathyroidism, Transient Neonatal
Brachycephaly, Undulate ribs, Short long bone, Short ribs, Enlarged kidney, Unilateral renal agen... OMIM:618188
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short tibia, Coxa valga, Thoracic hypoplasia, Plagiocephaly, Micrognathia, Epiphyseal stippling, ... ORPHA:96334
Robinow Syndrome, Autosomal Dominant 3
Short phalanx of finger, Bifid tongue, Micrognathia, Camptodactyly, Midface retrusion, Short neck... OMIM:616894
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... OMIM:156500
Sclerosteosis 1
Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, 2-3 f... OMIM:269500
Cerebellofaciodental Syndrome
Dental malocclusion, Genu valgum, Tapered finger, Macrodontia of permanent maxillary central inci... OMIM:616202
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Midface retrusion, Pectus excavatum, Broad hallux, Short hallux, Sh... OMIM:304120
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Anterior... OMIM:184250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Midface retrusion, Bro... OMIM:618019
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Humeroradial synostosis, Micrognathia, Prominent occiput, Phocomel... ORPHA:3404
Distal 22Q11.2 Microduplication Syndrome
Camptodactyly of finger, Sacral dimple, Mandibular prognathia, Tapered finger, High palate, Long ... ORPHA:261337
Dyggve-Melchior-Clausen Disease
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Abnorma... ORPHA:239
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joint cont... OMIM:113000
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Failure to thrive, Talar ... OMIM:619218
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Protrusio acetabuli, Abnormality of the knee, Broad femoral neck, Broad radial m... ORPHA:99642
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Micrognathia, Fused cervical vertebrae, Malar prominence, Abnormality of... ORPHA:2522
Eiken Syndrome
Pseudoepiphyses, Decreased body weight, Narrow pelvis bone, Midface retrusion, Flattened epiphysi... OMIM:600002
Spondylometaphyseal Dysplasia, Kozlowski Type
Flared iliac wing, Elbow flexion contracture, Irregular capital femoral epiphysis, Short neck, Ir... OMIM:184252
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Midface retrusion, Ov... OMIM:154400
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Advanced pneumatization of cranial sinuses, Broad femoral head, Fibular ... ORPHA:85188
Diamond-Blackfan Anemia 1
Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Short neck, Cleft palate, Partial dupli... OMIM:105650
Congenital Myopathy 17
Hand clenching, Dental malocclusion, Mandibular prognathia, Tapered finger, High palate, Long phi... OMIM:618975
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... OMIM:607078
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Thoracic hypoplasia, Long philtrum, Short long bone, Short lingual frenulum, Microdontia, Widely ... OMIM:619479
Macrocephaly/Autism Syndrome
High palate, Long philtrum, Biparietal narrowing, Midface retrusion, Large for gestational age, F... OMIM:605309
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Hyperhomocystinemia, Clinodactyly, Hypomethioninemia, Pancytopenia, Sy... ORPHA:2169
Focal Dermal Hypoplasia
Camptodactyly of finger, Toe syndactyly, Upper limb asymmetry, Tooth agenesis, Abnormal dental en... ORPHA:2092
Hajdu-Cheney Syndrome
Abnormal mandible morphology, Patellar dislocation, Micrognathia, Prominent occiput, Short neck, ... ORPHA:955
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Short fe... OMIM:132400
Apert Syndrome
Brachycephaly, Humeroradial synostosis, Delayed eruption of teeth, Bifid uvula, Midface retrusion... OMIM:101200
Multiple Sulfatase Deficiency
Broad hallux, Broad thumb, Mucopolysacchariduria, Hypoplastic vertebral bodies OMIM:272200
Kury-Isidor Syndrome
Brachycephaly, Sacral dimple, High palate, Finger syndactyly, Long philtrum, Widely spaced teeth,... OMIM:619762
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Retrognathia, Mild microcephaly, Recurrent urinar... ORPHA:363444
Braddock Syndrome
Preaxial hand polydactyly, Micrognathia, Missing ribs, Unilateral renal agenesis, Pectus excavatu... ORPHA:52047
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the knee, Renal hypoplasia/aplasia, Micrognathi... ORPHA:1834
Auriculocondylar Syndrome 1
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Macrocephaly, Dental crowding, ... OMIM:602483
Turnpenny-Fry Syndrome
Brachycephaly, Decreased body weight, Tapered finger, Plagiocephaly, Microdontia, Pectus excavatu... OMIM:618371
Van Maldergem Syndrome 2
Hip subluxation, Irregular dentition, Short 4th metacarpal, Micrognathia, Midface retrusion, Shor... OMIM:615546
Oliver Syndrome
Camptodactyly of finger, Short toe, Knee flexion contracture, Dental malocclusion, Mandibular pro... ORPHA:2920
Joubert Syndrome With Hepatic Defect
Multicystic kidney dysplasia, Macrocephaly, Biparietal narrowing, Nephropathy, Scoliosis, Postaxi... ORPHA:1454
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Au-Kline Syndrome
Coxa valga, Plagiocephaly, Bifid tongue, Bifid uvula, Pectus excavatum, Overlapping toe, Cleft pa... OMIM:616580
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Enamel hypoplasia, Pierre-Robin sequence, Short long bone, Hypodontia, Oligodon... OMIM:619184
Mucolipidosis Type Iv
Microdontia, Biparietal narrowing, Everted lower lip vermilion, Microcephaly, Palmoplantar kerato... ORPHA:578
Auriculocondylar Syndrome
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... ORPHA:137888
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Metaphyseal chondrodyspla... ORPHA:811
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Micrognathia, Diastema, Short neck, Brachydactyly, Malar flattening ORPHA:436245
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Hydronephrosis, Complete duplication of thumb phalanx, Fi... ORPHA:568
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Micrognathia, Persistence of hemoglobin F, Unilateral cryptorchidism, Macrocytic anemia, Increase... OMIM:300946
Yunis-Varon Syndrome
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... ORPHA:3472
Multiple Epiphyseal Dysplasia, Beighton Type
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... ORPHA:166011
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micrognathia, Elbow flexion contracture, Hip dislocation, Prominent occiput, Short femur, Elbow d... OMIM:210710
Intermediate Osteopetrosis
Dental malocclusion, Back pain, Erlenmeyer flask deformity of the femurs, Abnormality of dental m... ORPHA:210110
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Brachyolmia Type 1, Toledo Type
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Short femoral neck, Bro... OMIM:271630
Odontoid Hypoplasia
Dystopic os odontoideum, Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial i... OMIM:613628
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... OMIM:617604
Takenouchi-Kosaki Syndrome
Dental malocclusion, Abnormal sternum morphology, Tapered finger, Long philtrum, Wide mouth, Wide... OMIM:616737
Baller-Gerold Syndrome
Brachycephaly, Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphalangy of... OMIM:218600
Kniest Dysplasia
Dumbbell-shaped long bone, Hip dislocation, Midface retrusion, Pectus excavatum, Short neck, Clef... OMIM:156550
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, 2-3 toe syndactyly, Wide penis, Dilatation of renal calices, Short femur... ORPHA:3455
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip subluxation, Coxa valga, Irregular carpal bones, Ivory epiphyses of the phalanges of the hand... OMIM:226980
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Chondroitin sulfate excretion in urine, Coxa v... OMIM:253000
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Abnormality of the philtrum, Short foot, Kyphosis, Toe syndactyly, Micro... ORPHA:3409
Ritscher-Schinzel Syndrome 1
Brachycephaly, Micrognathia, Missing ribs, Prominent occiput, Syndactyly, Hypospadias, Cleft pala... OMIM:220210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Coxa valga, Advanced ossification of carpal bones, Decreased body weight, Hallux... OMIM:271640
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Narrow palate, Clinodactyly, Failure to thrive, P... OMIM:617883
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
3C Syndrome
Hydronephrosis, Finger syndactyly, Kyphosis, Micrognathia, Missing ribs, Hand polydactyly, Macroc... ORPHA:7
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Intellectual Developmental Disorder, Autosomal Dominant 53
Brachycephaly, Genu valgum, Wide mouth, Macrocephaly, Short femur, Microcephaly, Posterior plagio... OMIM:617798
Osteogenesis Imperfecta
Brachycephaly, Thoracic hypoplasia, Delayed eruption of teeth, Micrognathia, Prominent occiput, P... ORPHA:666
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Baller-Gerold Syndrome
Brachycephaly, Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, Hydronephrosis, High palat... ORPHA:1225
Autosomal Recessive Omodysplasia
Rhizomelia, Long philtrum, Micrognathia, Abnormal morphology of the radius, Elbow dislocation, Fr... ORPHA:93329
Catel-Manzke Syndrome
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd... OMIM:616145
Noonan Syndrome 4
Dental malocclusion, Abnormal sternum morphology, Hydronephrosis, Pectus excavatum of inferior st... OMIM:610733
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Biparietal narrowing, Long fibula, Pectus excavatum ORPHA:935
Acro-Renal-Mandibular Syndrome
Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Rudimentary to absent tibiae, Oro... ORPHA:958
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Microcephaly, Micropenis, Postaxial hand polydactyly, Br... ORPHA:2519
Kniest Dysplasia
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Short neck, Abnormal cartilage col... ORPHA:485
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Tibial bowing, Fe... ORPHA:93356
Absent in utero ossification of vertebral bodies, Bell-shaped thorax, Unossified sacrum, Thoracic... OMIM:608022
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Achilles tendon contracture, Pec... OMIM:617258
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Brachycephaly, Absent thumb, Coxa valga, Patellar dislocation, Micrognat... OMIM:274000
Weismann-Netter Syndrome
Kyphosis, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna,... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Broad foot, Flared iliac wing, Midface retrusion, Short neck, Flattened epiphysis, Peg-like centr... OMIM:300232
Trisomy 13
Hydronephrosis, Long philtrum, Kyphosis, Narrow chest, Displacement of the urethral meatus, Abnor... ORPHA:3378
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Micrognathia, Dysplastic patella, Hip dislocation, Camptod... OMIM:265000
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Cranioectodermal Dysplasia 2
Horizontal ribs, Polydactyly, Plagiocephaly, Micrognathia, Microdontia, Midface retrusion, Pectus... OMIM:613610
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... OMIM:246700
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... OMIM:602111
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hip dysplasia, Abnormal localization of kidney, Abnormal rib morphology... ORPHA:195
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypogonadism, Elevated transferrin saturation, Azoospermia, Poikilocytosis, Decreased mea... OMIM:615234
Trisomy 20P
Camptodactyly of finger, Brachycephaly, Plagiocephaly, Micrognathia, Microdontia, Everted lower l... ORPHA:261318
Squalene Synthase Deficiency
Knee flexion contracture, 2-3 toe syndactyly, Decreased LDL cholesterol concentration, Micrognath... OMIM:618156
Progeria-Short Stature-Pigmented Nevi Syndrome
Dental malocclusion, Thoracic scoliosis, Selective tooth agenesis, Small for gestational age, Mic... ORPHA:2959
Zaki Syndrome
Sacral dimple, Hydronephrosis, High palate, Wide mouth, Toe syndactyly, Micrognathia, Renal agene... OMIM:619648
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Ureteral agenesis, High palate, Congenital megaureter, 2-3 finger syndac... ORPHA:2437
Cooper-Jabs Syndrome
Camptodactyly of finger, Brachycephaly, Missing ribs, Frontal bossing, Scoliosis, Proximal placem... ORPHA:1488
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Macrocephaly, Clinodactyly of the 5th fin... ORPHA:1275
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... OMIM:618395
Kabuki Syndrome 2
Dental malocclusion, Short 5th finger, Decreased body weight, Lower lip pit, High palate, Natal t... OMIM:300867
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Micrognathia, Hypoplasia of penis, Hypospadias, Narrow mouth, Abnormali... ORPHA:1046
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Long philtrum, Vertebral segm... ORPHA:2311
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Radial deviation of the hand, Short 5th finger, Small for gestational age, Microgna... OMIM:227270
Ollier Disease
Multiple enchondromatosis, Micromelia, Platyspondyly, Abnormal metaphysis morphology, Abnormal ca... ORPHA:296
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Suleiman-El-Hattab Syndrome
Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Mic... OMIM:618950
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Omodysplasia 1
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... OMIM:258315
Dental malocclusion, Hypoplastic ilia, Kyphosis, Delayed eruption of teeth, Midface retrusion, He... ORPHA:1855
Mucopolysaccharidosis Type 4
Coxa valga, Grayish enamel, Short neck, Abnormal rib morphology, Abnormal metaphysis morphology, ... ORPHA:582
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormie