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Gene: Ift80 MGI:1915509

Gene Summary

Name:

intraflagellar transport 80

Synonyms:

Wdr56, 4921524P20Rik

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	Allele	Zyg	Life Stage	P Value
increased red blood cell distribution width	Ift80^{tm1a(KOMP)Wtsi}	HET	Early adult	4.60×10^-08
increased blood urea nitrogen level	Ift80^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.25×10^-05
preweaning lethality, incomplete penetrance	Ift80^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00
abnormal radius morphology	Ift80^{tm1a(KOMP)Wtsi}	HET	Early adult	2.87×10^-05
abnormal pelvic girdle bone morphology	Ift80^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.38×10^-05
abnormal ulna morphology	Ift80^{tm1a(KOMP)Wtsi}	HET	Early adult	1.67×10^-05

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X-ray

XRay Images Skull Lateral Orientation

21 Images

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Legacy Phenotype Associated Images

Ift80^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

Ift80^{tm1a(KOMP)Wtsi}
HET, Female, WTSI

View all 127 images

Ift80^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Ift80^{tm1a(KOMP)Wtsi}
back skin, HET, Female, WTSI

Ift80^{tm1a(KOMP)Wtsi}
HOM, Unsexed, WTSI

Ift80^{tm1a(KOMP)Wtsi}
abnormal cornea morphology, HET, Male, WTSI

Human diseases caused by Ift80 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 Ift80 (3 diseases)
Human diseases predicted to be associated with Ift80 (782 diseases)

The table below shows human diseases associated to Ift80 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Short stature, Toe syndactyly, Narrow chest, Abnormal ...	ORPHA:474
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Short metacarpal, Narrow chest, Brachydactyly, Postaxial hand polydactyly, Short foot...	OMIM:611263
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Preaxial hand polydactyly, Short thorax, Short ribs, Short palm, Narrow chest, Macrocephaly, Abno...	ORPHA:93271

The table below shows human diseases predicted to be associated to Ift80 by phenotypic similarity.

Disease	Matching phenotypes	Source
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Radioulnar synostosis, Limited pronation/supination of forearm	OMIM:179300
Metaphyseal Anadysplasia	Abnormal ulnar metaphysis morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radi...	ORPHA:1040
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab...	ORPHA:3269
Ring Chromosome 4 Syndrome	Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl...	ORPHA:1447
Fibular Aplasia-Ectrodactyly Syndrome	Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand	ORPHA:1118
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormal morphology of ulna, Aplasia...	ORPHA:1570
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5th finge...	ORPHA:71289
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Polydactyly, Preaxial Ii	Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t...	OMIM:174500
Syndactyly Type 2	Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S...	ORPHA:93403
Synpolydactyly 1	Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl...	OMIM:186000
Femur-Fibula-Ulna Complex	Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna...	ORPHA:2019
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ...	ORPHA:1275
Acropectoral Syndrome	Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly...	OMIM:605967
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Short stature, Clinodactyly of the 5th finger, Radio...	ORPHA:3268
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, Osteopathia striata...	ORPHA:2779
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Syndactyly, Anisocytosis, Anemia ...	OMIM:615631
Polydactyly, Postaxial, Type A1	Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly	OMIM:174200
Orofaciodigital Syndrome Xviii	Genu valgum, Short stature, Cervical ribs, Single transverse palmar crease, Preaxial polydactyly,...	OMIM:617927
Santos Syndrome	Polydactyly, Genu valgum, Short stature, Talipes equinovarus, Oligodactyly, Metatarsus adductus, ...	OMIM:613005
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ...	ORPHA:1986
Robin Sequence-Oligodactyly Syndrome	Hand oligodactyly, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal morph...	ORPHA:3104
Weismann-Netter Syndrome	Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A...	ORPHA:3344
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Horizontal ribs, Short stature, Short ribs, Death in infancy, Narrow chest, Postaxial foot polyda...	OMIM:617405
Polydactyly, Preaxial Iv	1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ...	OMIM:174700
Acropectoral Syndrome	Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Dislocated radial head, Radioulnar synostosis	OMIM:266255
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno...	ORPHA:3266
Langer Mesomelic Dysplasia	Aplasia/Hypoplasia of the fibula, Short femoral neck, Abnormal carpal morphology, Ulnar deviation...	ORPHA:2632
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology	OMIM:259270
Arms, Malformation Of	Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna	OMIM:107900
Polydactyly, Preaxial I	Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu...	OMIM:174400
Fibular Aplasia-Complex Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ...	ORPHA:2639
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap...	ORPHA:1837
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormal ...	ORPHA:294975
Acrorenal Syndrome	Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S...	ORPHA:971
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy...	OMIM:609052
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Short long bone, Short ribs, Thoracic dysplasia, Macrocephaly, Femoral bowing, Syn...	OMIM:615503
Hallux Varus And Preaxial Polysyndactyly	Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus	OMIM:234280
Ulnar Hypoplasia	Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ...	OMIM:191440
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e...	ORPHA:1350
Leri-Weill Dyschondrosteosis	Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb...	OMIM:127300
Léri-Weill Dyschondrosteosis	Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys...	ORPHA:240
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,...	OMIM:618728
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Syndactyly, Type Iv	Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ...	OMIM:186200
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Short stature, Toe syndactyly, Narrow chest, Abnormal ...	ORPHA:474
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Macrocephaly, Abnormal pelvic girdle bone morphology, Abnormal rib morphology,...	ORPHA:1506
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Syndactyly, Split foot, Short finger, Hypoplasia of the ulna	OMIM:314360
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Macrocephaly, Diaphyseal thickening, Short stature	ORPHA:1513
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular...	ORPHA:174
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Syndactyly-Polydactyly-Earlobe Syndrome	Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2...	OMIM:186350
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna	ORPHA:1122
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Langer Mesomelic Dysplasia	Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Hypoplasia ...	OMIM:249700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia	OMIM:620085
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ...	OMIM:607778
Coxopodopatellar Syndrome	Hip dysplasia, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the patella, Abnormal pelvic ...	ORPHA:1509
Radial Hemimelia	Aplasia of the 1st metacarpal, Deviation of the hand or of fingers of the hand, Abnormality of th...	ORPHA:93321
Metaphyseal Dysplasia Without Hypotrichosis	Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse...	OMIM:250460
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,...	ORPHA:2634
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges...	OMIM:176240
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Preaxial hand polydactyly	OMIM:601759
Acheiropodia	Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm...	ORPHA:931
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ...	ORPHA:85188
Dyschondrosteosis And Nephritis	Short tibia, Short forearm, Radial bowing, Ulnar bowing, Madelung deformity	OMIM:127350
Oslam Syndrome	Radial deviation of finger, Anemia, Clinodactyly, Radioulnar synostosis	OMIM:165660
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac...	ORPHA:52056
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Death in infancy, Narrow chest, Disproportionate short stat...	ORPHA:1354
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Madelung deformity, Radial bowing, Limited pronation/supination of forearm	DECIPHER:58
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Microcephaly, Short stature	ORPHA:2435
Mesomelic Dysplasia, Nievergelt Type	Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Radioulnar synostosis, Clino...	ORPHA:2633
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A...	ORPHA:86841
Jawad Syndrome	Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t...	OMIM:251255
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Horizontal ribs, Cone-shaped epiphysis, Thoracic hypoplasia, Short stature, Short long bone, Shor...	OMIM:613091
Boomerang Dysplasia	Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality of the humerus, Abnormal morphol...	ORPHA:1263
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd...	OMIM:618167
Ulnar Hemimelia	Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac...	ORPHA:93320
Kyphomelic Dysplasia	Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Disproportionate short st...	ORPHA:1801
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ...	OMIM:615633
Acromesomelic Dysplasia 2C	Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop...	OMIM:201250
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A...	OMIM:300835
Feingold Syndrome 2	2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short stature, Short middle phalanx o...	OMIM:614326
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ...	ORPHA:2141
Metatropic Dysplasia	Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Disproportionate short-trunk short ...	OMIM:156530
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Radial bowing, Amegakaryocytic thrombocytopenia, Ulnar bowing, Hip dislocation, Clinodactyly of t...	OMIM:605432
Brachydactyly Type A1	Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala...	ORPHA:93388
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Preaxial hand polydactyly, Short stature, Interphalangeal joint contracture of finger, Microcepha...	OMIM:606242
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Biemond Syndrome Type 2	Delayed puberty, Preaxial polydactyly, Short stature	ORPHA:141333
Wt Limb-Blood Syndrome	Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Short thumb, Radioulnar synostos...	OMIM:194350
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Microcephaly	ORPHA:64754
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho...	ORPHA:93351
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Short stature, Abnormality of the humerus, Synostosis of carpal bones, C...	ORPHA:1836
Brachyolmia Type 1, Hobaek Type	Short femoral neck, Short long bone, Short iliac bones, Flat acetabular roof, Sclerotic foci of m...	OMIM:271530
Thanatophoric Dysplasia, Type Ii	Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Lethal short-limbed short stature, Flared...	OMIM:187601
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Thoracic hypoplasia, Short long...	OMIM:608728
Stuve-Wiedemann Syndrome 2	Thoracic hypoplasia, Short long bone, Camptodactyly, Stillbirth, Death in adolescence, Neonatal d...	OMIM:619751
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Microcephaly, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis mo...	ORPHA:2643
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Polydactyly, Postaxial, Type A8	Genu valgum, Short stature, Postaxial polydactyly	OMIM:618123
Distal Arthrogryposis Type 1	Camptodactyly of finger, Ulnar deviation of finger, Adducted thumb, Overlapping fingers, Abnormal...	ORPHA:1146
Beukes Hip Dysplasia	Broad femoral neck, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Flat capi...	OMIM:142669
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Diastrophic Dysplasia	Genu valgum, Hip contracture, Short long bone, Short finger, Ulnar deviation of finger, Irregular...	OMIM:222600
Multiple Epiphyseal Dysplasia Type 1	Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm...	ORPHA:93308
Short-Rib Thoracic Dysplasia 18 With Polydactyly	2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Missing ribs, Ulnar bowing, H...	OMIM:617866
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal cupping, Coxa vara, Radial bowing, Flared iliac wing, Ulnar bowing, Femor...	OMIM:602111
Axial Spondylometaphyseal Dysplasia	Thoracic hypoplasia, Flattened femoral head, Mild postnatal growth retardation, Narrow greater sc...	ORPHA:168549
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ...	OMIM:609616
Greig Cephalopolysyndactyly Syndrome	Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Macrocep...	ORPHA:380
Osebold-Remondini Syndrome	Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec...	OMIM:112910
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Preaxial polydactyly, Microcephaly, Overlapping fingers, Bilateral talipes equin...	OMIM:618142
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Horizontal ribs, Bell-shaped thorax, Rhizomelia, Short long bone, Short ribs, Flat a...	OMIM:616300
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Hypochondroplasia	Genu varum, Short femoral neck, Short long bone, Macrocephaly, Brachydactyly, Flared metaphysis, ...	OMIM:146000
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad femoral neck, Genu valgum, Upper limb undergrowth, Enlargement of the costochondral junctio...	OMIM:271650
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication	OMIM:188740
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Schneckenbecken Dysplasia	Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Anter...	OMIM:269250
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short stature, Short long bone, Brachydactyly, Narrow chest	OMIM:613819
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop...	OMIM:614524
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Short middle phalanx of the 4th finger, Radioulnar synostosis, Thrombocytopenia, Limited ...	OMIM:616738
Oslam Syndrome	Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2760
Spondylometaphyseal Dysplasia, Axial	Anterior rib cupping, Short femoral neck, Coxa vara, Thoracic hypoplasia, Rhizomelia, Short statu...	OMIM:602271
Juberg-Hayward Syndrome	Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A...	ORPHA:2319
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Short stature, Macrocephaly, Diaphyseal sclerosis, Death in adolescence	OMIM:122860
Ivic Syndrome	Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Limited elbow movement, Short 1st meta...	OMIM:147750
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ...	ORPHA:3329
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi...	ORPHA:750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Short stature, Macroce...	OMIM:300863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast...	OMIM:608940
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split...	OMIM:119100
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly	OMIM:228250
Diastrophic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Hip dysplasia, Abnorm...	ORPHA:628
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Odontochondrodysplasia 1	Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Deat...	OMIM:184260
Fibular Hemimelia	Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ...	ORPHA:93323
Ghosal Hematodiaphyseal Dysplasia	Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of femur mor...	ORPHA:1802
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Preaxial hand polydactyly, Wide anterior fontanel, Abnormality of the elbow,...	ORPHA:3098
Acheiropody	Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen...	OMIM:200500
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limited elbow movement, Talipes equinovarus	OMIM:276821
Orofaciodigital Syndrome Type 10	Short tibia, Short toe, Radial deviation of the hand, Metatarsal synostosis, Oligodactyly, Promin...	ORPHA:2756
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Small hand, Stenosis of the medullary cavity of the long bones, Cortical thickeni...	ORPHA:93324
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Flat glenoid fossa, Short palm, Metaphyseal irregularity, Genu valgum, Short ribs, Broad phalanx,...	OMIM:250420
Spondylometaphyseal Dysplasia, A4 Type	Flared, irregular rib ends, Short palm, Severe short stature, Coxa vara	ORPHA:168555
Pseudoachondroplasia	Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi...	OMIM:177170
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly	ORPHA:2091
Metatropic Dysplasia	Camptodactyly of finger, Narrow chest, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Coa...	ORPHA:2635
Endosteal Hyperostosis, Worth Type	Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening	ORPHA:2790
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, Short long bone, Short ribs, Mac...	OMIM:187600
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Short metacarpal, Narrow chest, Brachydactyly, Postaxial hand polydactyly, Short foot...	OMIM:611263
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs	OMIM:138790
Acromicric Dysplasia	Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln...	OMIM:102370
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Short ribs, Irregular chondrocostal ...	OMIM:187760
Multiple Epiphyseal Dysplasia Type 4	Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi...	ORPHA:93307
Mesomelic Dysplasia, Savarirayan Type	Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl...	ORPHA:85170
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:617872
Diamond-Blackfan Anemia 11	Absent thumb, Anemia, Neutropenia, Forearm reduction defects, Hypoplasia of the radius, Radioulna...	OMIM:614900
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,...	OMIM:151210
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Narrow chest, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal rib...	ORPHA:93267
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular...	ORPHA:98870
Dyggve-Melchior-Clausen Disease	Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Disproportionate short-trunk sho...	OMIM:223800
Holt-Oram Syndrome	Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca...	ORPHA:392
Autosomal Dominant Spondylocostal Dysostosis	Short thorax, Missing ribs, Posterior rib fusion, Macrocephaly, Spina bifida occulta, Severe shor...	ORPHA:1797
Mesomelic Dysplasia, Kantaputra Type	Radial bowing, Tarsal synostosis, Carpal synostosis	OMIM:156232
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Horizontal ribs, Neonatal death, Hypoplastic pubic bone, Wide anterior fontanel, Sho...	OMIM:617925
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Macrocephaly, Pectus excavatum, Epiphysea...	OMIM:607131
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Metatarsus valgus, Short stature, Toe syndactyly, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplas...	ORPHA:3082
Biemond Syndrome Ii	Preaxial hand polydactyly, Short stature	OMIM:210350
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Anterior rib cupping, C...	OMIM:184250
Acrodysostosis	Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ...	ORPHA:950
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Asymmetric radial dysplasia, R...	OMIM:171480
Achondrogenesis Type 1B	Short thorax, Narrow chest, Macrocephaly, Disproportionate short stature, Severe short stature, A...	ORPHA:93298
Lethal Kniest-Like Dysplasia	Abnormality of the ischium, Wide anterior fontanel, Hypoplastic ilia, Short ribs, Anterior rib cu...	ORPHA:2347
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Camptodactyly, Rocker bottom foot	OMIM:604273
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Coxa vara, Short stature, Hip dysplasia, Preaxial foot polydacty...	ORPHA:1988
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg...	OMIM:258900
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the elbow, Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Short...	ORPHA:2491
Achondrogenesis, Type Ii	Hypoplastic iliac wing, Horizontal ribs, Short tubular bones of the hand, Short long bone, Short ...	OMIM:200610
Grant Syndrome	Short stature, Narrow chest, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morpho...	ORPHA:2097
Prader-Willi Syndrome Due To Imprinting Mutation	Narrow palm, Short foot, Abnormal ulnar metaphysis morphology, Small hand	ORPHA:177910
Thalidomide Embryopathy	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly...	ORPHA:3312
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Radial club hand, Asymmetric radial dysplasia, Ulnar bowing, Abn...	ORPHA:2878
Lethal Faciocardiomelic Dysplasia	Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna...	ORPHA:1972
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Short stature, Relative macrocephaly, Clinodactyly of the 5th finger, Upper limb asy...	ORPHA:231140
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con...	OMIM:164900
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short long bone, Short ribs, Coarse metaphyseal trabecularization, Brachydactyly, Narrow chest, D...	OMIM:618961
Greig Cephalopolysyndactyly Syndrome	Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Camptodactyl...	OMIM:175700
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Rh Deficiency Syndrome	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a...	ORPHA:71275
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Short stature, S...	OMIM:609813
Spondylometaphyseal Dysplasia, Algerian Type	Genu valgum, Anterior rib cupping, Coxa vara, Short tubular bones of the hand, Short long bone, S...	OMIM:184253
Bardet-Biedl Syndrome 22	Polydactyly, Macrocephaly, Microcephaly, Postaxial foot polydactyly	OMIM:617119
Fibrochondrogenesis 1	Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Narrow greater sciatic notch, Shor...	OMIM:228520
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Polydactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Short stature	ORPHA:195
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Preaxial hand polydactyly, Short metacarpal, Broad thumb, Brachydactyly, Short ...	ORPHA:1278
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Poland Syndrome	Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd...	OMIM:173800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Rel...	OMIM:617895
Short Stature, Dauber-Argente Type	Short stature, Decreased fibular diameter, Long toe, Microcephaly, Arachnodactyly, Long fingers, ...	OMIM:619489
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Epiphyseal streaking, Clinodactyly of the 4th toe, Short stature, Asymmetry of the thorax, Limite...	OMIM:604922
Dysspondyloenchondromatosis	Abnormality of fibula morphology, Genu valgum, Abnormal ulnar metaphysis morphology, Metaphyseal ...	ORPHA:85198
Laurin-Sandrow Syndrome	Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,...	OMIM:135750
Joubert Syndrome 17	3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly	OMIM:614615
Dyggve-Melchior-Clausen Disease	Hypoplastic acetabulae, Limited elbow extension, Disproportionate short-trunk short stature, Genu...	ORPHA:239
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short tibia, Absent thumb, Short stature, Supernumerary ribs, Short femur, Hypoplasia of the ulna...	OMIM:612447
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis	OMIM:616959
Trisomy 4P	Camptodactyly of finger, Preaxial hand polydactyly, Radial club hand, Short stature, Microcephaly	ORPHA:1738
Spondyloperipheral Dysplasia	Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ...	OMIM:271700
Xylt1-Cdg	Coxa valga, Short femoral neck, Short stature, Short long bone, Clinodactyly, Relative macrocepha...	ORPHA:370930
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands	ORPHA:85287
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Short stature, Short long bone, Short ribs,...	OMIM:615630
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Death in infancy, Rhizomelia, S...	ORPHA:163966
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Narrow chest, Flared iliac wing, Synostosis of carpal bones, Abnormal me...	ORPHA:90652
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short phalanx of finger, Short thorax, Short metacarpal, Angel-shaped phalanx, Short stature, Fla...	OMIM:617102
Desbuquois Dysplasia 2	Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Hip dislocation, Pect...	OMIM:615777
Weyers Ulnar Ray/Oligodactyly Syndrome	Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal placement of thumb, Proximal ...	OMIM:602418
Joubert Syndrome 10	Macrocephaly, Growth delay, Postaxial polydactyly	OMIM:300804
Dominant Beta-Thalassemia	Genu valgum, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Holt-Oram Syndrome	Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi...	OMIM:142900
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl...	ORPHA:1856
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Abnormality of the wrist, Oligod...	ORPHA:1307
Three M Syndrome 2	Short thorax, Short 5th finger, Short stature, Slender long bone, Clinodactyly, Relative macrocep...	OMIM:612921
Laron Syndrome	Delayed menarche, Severe short stature, Short long bone	OMIM:262500
Orofaciodigital Syndrome Type 6	Short stature, Foot polydactyly, Mesoaxial polydactyly, Biparietal narrowing, Hand polydactyly, S...	ORPHA:2754
Hypophosphatasia	Short stature, Narrow chest, Abnormal rib morphology, Abnormal metaphysis morphology, Bowing of t...	ORPHA:436
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi...	OMIM:601376
Jackson-Weiss Syndrome	2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Preaxial f...	ORPHA:1540
Endocrine-Cerebroosteodysplasia	Ulnar deviation of the hand, Narrow chest, Talipes equinovarus, Brachydactyly, Barrel-shaped ches...	OMIM:612651
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Relative macrocephaly, Clinodactyly, Intrauterine growth retardation, Short foot, Acr...	ORPHA:254525
Duane-Radial Ray Syndrome	Triphalangeal thumb, Shoulder dislocation, Absent thumb, Radial deviation of the hand, Aplasia of...	OMIM:607323
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl...	ORPHA:65759
Ellis-Van Creveld Syndrome	Hypoplastic iliac wing, Horizontal ribs, Genu valgum, Capitate-hamate fusion, Short long bone, Sh...	OMIM:225500
Spondyloepimetaphyseal Dysplasia, X-Linked	Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi...	OMIM:300106
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Coxa valga, Finger syndactyly, Tibial torsion, Hip dislocation, Clinodactyly of the 5...	ORPHA:3320
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi...	ORPHA:2370
Acrocephalopolydactyly	Brachydactyly, Thoracic hypoplasia, Short long bone	ORPHA:221054
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio...	ORPHA:2741
Kenny-Caffey Syndrome, Type 1	Thin clavicles, Short foot, Small hand, Birth length less than 3rd percentile, Slender long bone,...	OMIM:244460
Spondylometaphyseal Dysplasia, Kozlowski Type	Coxa vara, Flared iliac wing, Flat acetabular roof, Halberd-shaped pelvis, Delayed ossification o...	OMIM:184252
Lethal Congenital Contracture Syndrome Type 1	Abnormality of the elbow, Short stature, Slender long bone, Abnormal rib morphology, Abnormal hip...	ORPHA:1486
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Pectus excavatum, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphol...	ORPHA:2522
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Narrow pelvis bone, Limited elbow extension, Pseudoepiphyses of the metacarpals, Postnatal growth...	OMIM:210720
Nievergelt Syndrome	Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Tarsal synostosis, Talipes equinovarus	OMIM:163400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,...	OMIM:250220
Achondrogenesis Type 1A	Short thorax, Short foot, Multiple rib fractures, Macrocephaly, Severe short stature, Narrow ches...	ORPHA:93299
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,...	OMIM:614078
Bardet-Biedl Syndrome 16	Polydactyly, Short stature	OMIM:615993
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S...	OMIM:118651
Achondrogenesis Type 2	Hypoplastic ilia, Short stature, Short ribs, Short long bone, Narrow chest, Delayed proximal femo...	ORPHA:93296
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Intrauterine growth retardation, Microcephaly, Hypoplastic ischia	OMIM:616910
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Short stature, Short long bone, Short ribs, Flat acetabular roof, Thoracic dysplasia...	OMIM:614091
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Genu valgum, Short thorax, Advanced ossification of carpal bones, Coxa valga, Short femoral neck,...	OMIM:618363
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Abnormal pelvic girdle bone morphol...	OMIM:166210
Eiken Syndrome	Broad femoral neck, Pseudoepiphyses, Short stature, Long hallux, Narrow pelvis bone, Flat acetabu...	OMIM:600002
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Split hand, Brachydactyly, Abnormal rib morphology, Intrauterin...	ORPHA:2145
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Peg-like central prominence of distal tibial metaphyses, Anterior rib cupping, Coxa vara, Short f...	OMIM:300232
Fibrochondrogenesis	Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Short stature, S...	ORPHA:2021
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Sprengel anomaly, Abnorm...	ORPHA:2475
Achondroplasia	Thoracic hypoplasia, Wide anterior fontanel, Rhizomelia, Short long bone, Flat acetabular roof, N...	ORPHA:15
Brachydactyly, Type B1	Wide anterior fontanel, Joint contracture of the hand, Short long bone, Cutaneous finger syndacty...	OMIM:113000
Synpolydactyly 2	Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar...	OMIM:608180
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short ribs, Preaxial polydactyly, Narrow chest, Postaxial polydactyly	OMIM:616546
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short phalanx of finger, Short toe, Hypoplastic iliac wing, Thoracic hypoplasia, Short foot, Shor...	OMIM:611717
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Horizontal ribs, Short...	OMIM:208500
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Short stature, Syndactyly	OMIM:300484
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum	OMIM:602196
Three M Syndrome 1	Short thorax, Short 5th finger, Short stature, Short ribs, Slender long bone, Clinodactyly of the...	OMIM:273750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Triphalangeal thumb, Preaxial hand polydactyly, Death in infancy, Abnormal thumb morphology, Prox...	ORPHA:1120
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Short stature, Preaxial foot polydactyly, Absent tibia, Mirror image foot po...	OMIM:119800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Elbow flexion contracture, Hip dislocation, Short femur, Elbow dislocation, Bifid first metacarpa...	OMIM:210710
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Metaphyseal irregularity, Tapered finger, Short femoral neck, Short stature, Hip dislocation, Del...	OMIM:618395
Achondrogenesis, Type Ia	Bell-shaped thorax, Short thorax, Bowing of the arm, Hypoplasia of the radius, Short ribs, Broad ...	OMIM:200600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
3M Syndrome	Horizontal ribs, Enlarged thorax, Short thorax, Hypoplastic pubic bone, Abnormality of the elbow,...	ORPHA:2616
Renpenning Syndrome	Clinodactyly of the 5th finger, Pectus excavatum, Abnormal thumb morphology, Severe short stature...	ORPHA:3242
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Short thorax, Coxa valga, Short stature, Narrow ...	ORPHA:2484
Greenberg Dysplasia	Short phalanx of finger, Thoracic hypoplasia, Tetraphocomelia, Epiphyseal stippling, Hypoplasia o...	OMIM:215140
Mucolipidosis Iii Alpha/Beta	Short stature, Short long bone, Short ribs, Irregular carpal bones, Carpal bone hypoplasia, Split...	OMIM:252600
Faciocardiomelic Dysplasia, Lethal	Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Hypoplasia of the ulna,...	OMIM:227270
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Limited ...	OMIM:618019
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Slender finger, Microcephaly, Long fingers, Talipes equinovarus, Postnatal growth retar...	OMIM:613355
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,...	ORPHA:85167
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux	OMIM:235750
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Short ribs...	OMIM:224400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Short thorax, Talipes equinovarus, Death in infancy, Short long bone	OMIM:618845
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Short thorax, Finger syndactyly, Short stature, Macrocephaly, Rib segmen...	ORPHA:2311
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Metaphyseal irregularity, Enlargement of the costochondral junction, Delayed epiphyseal ossificat...	OMIM:600081
Short Rib-Polydactyly Syndrome	Short tibia, Polydactyly, Horizontal ribs, Thoracic hypoplasia, Abnormal pelvis bone ossification...	ORPHA:1505
Mohr Syndrome	Metaphyseal irregularity, Preaxial hand polydactyly, Short stature, Preaxial foot polydactyly, Pa...	OMIM:252100
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Pectus excavatum, Disproportionate short-limb short stature, Pectus carinatum,...	OMIM:259440
Lethal Recessive Chondrodysplasia	Narrow chest, Flared elbow metaphyses, Short long bone	ORPHA:1423
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Lower limb undergrowth, Abnormal rib morphology, Abnormality of fibula morphology,...	ORPHA:3035
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Enlarged thorax, Short thorax, Short stature, Short long bone, Rhizo-meso-acromelic limb shorteni...	ORPHA:163654
Cleidocranial Dysplasia	Genu valgum, Tapered finger, Coxa vara, Short stature, Narrow chest, Hypoplastic inferior ilia, A...	ORPHA:1452
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Ab...	ORPHA:2725
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Mosaic Trisomy 14	Camptodactyly of finger, Narrow chest, Abnormal rib morphology, Bilateral single transverse palma...	ORPHA:1703
Mucopolysaccharidosis Type 4	Genu valgum, Short thorax, Coxa valga, Short stature, Macrocephaly, Abnormal rib morphology, Abno...	ORPHA:582
Orofaciodigital Syndrome Iv	Short tibia, Short stature, Toe syndactyly, Foot polydactyly, Short finger, Hand polydactyly, Cli...	OMIM:258860
Laurin-Sandrow Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication...	ORPHA:2378
Drug-Induced Lupus Erythematosus	Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci...	ORPHA:231111
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing	ORPHA:1765
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Genu valgum, Coxa vara, Short femoral neck, Abnormality of the epiphysis o...	ORPHA:93316
Acromesomelic Dysplasia 4	Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Broad phalanx, Flared ...	OMIM:619636
Multiple Synostoses Syndrome 1	2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short hallux, Radial deviation of f...	OMIM:186500
Becker Nevus Syndrome	Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnormality of ...	ORPHA:64755
Orofaciodigital Syndrome Xvii	Polydactyly, Short stature, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fin...	OMIM:617926
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Coxa valga, Wide anterior fontanel, Short stature, Macrocephaly, Flared ...	OMIM:269300
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Macrocephaly, Sprengel anomaly, Sandal gap, Brachydactyly, Abnormal rib morphology	ORPHA:2180
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Sprengel anomaly, Preaxial hand polydactyly, Talipes equinovarus, Cervical ribs	OMIM:601389
Sprengel Deformity	Spina bifida occulta, Sprengel anomaly, Shoulder muscle hypoplasia, Rib segmentation abnormalities	OMIM:184400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Bell-shaped thorax, Metaphyseal cupping, Short stature, Short long bone, S...	OMIM:613320
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad femoral neck, Coxa valga, Wide anterior fontanel, Short tubular bones of the hand, Macrocep...	ORPHA:85184
Cooper-Jabs Syndrome	Camptodactyly of finger, Short stature, Missing ribs, Proximal placement of thumb, Abnormal rib m...	ORPHA:1488
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Triangular shaped distal phalanges of the hand, Slender long bone, Abnormal tho...	ORPHA:73230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Radioulnar synostosis, Abnormal pelvic girdle bone morphology, Hand oligodacty...	ORPHA:1788
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia	OMIM:613845
Phaver Syndrome	Camptodactyly of finger, Triphalangeal thumb, Radioulnar synostosis, Ulnar deviation of finger, B...	ORPHA:2876
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di...	ORPHA:457395
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Braddock Syndrome	Preaxial hand polydactyly, Short stature, Missing ribs, Pectus excavatum, Intrauterine growth ret...	ORPHA:52047
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Short stature, Clinodactyly of the 5th finger, Microcephaly, Abnormal rib morphology, Abnormal hi...	ORPHA:3068
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplastic iliac wing, Coxa vara, Short femoral neck, Irregular epiphyses, Barrel-shaped chest, ...	OMIM:313400
Multiple Osteochondromas	Deformed radius, Genu valgum, Coxa valga, Abnormal carpal morphology, Femoroacetabular impingemen...	ORPHA:321
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Orthostatic Hypotension 1	Increased blood urea nitrogen, Hypomagnesemia, Brachydactyly	OMIM:223360
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short...	ORPHA:2502
Kyphomelic Dysplasia	Anterior rib cupping, Thoracic hypoplasia, Short metacarpal, Radial bowing, Flat acetabular roof,...	OMIM:211350
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand...	ORPHA:93314
Opsismodysplasia	Short phalanx of finger, Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short f...	OMIM:258480
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelic arm shortening, Iliac crest serration, Short metacarpal, Narrow chest, Disproportionat...	ORPHA:93317
Gracile Bone Dysplasia	Short stature, Death in infancy, Slender long bone, Flared metaphysis, Brachydactyly, Thin ribs	OMIM:602361
Saul-Wilson Syndrome	Coxa valga, Wide anterior fontanel, Short metacarpal, Enlarged epiphyses, Madelung deformity, Sho...	OMIM:618150
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ...	OMIM:609945
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Macrocephaly, Microcephaly,...	ORPHA:313781
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Short ribs, Clubbing of fingers, Hypop...	ORPHA:1865
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo...	OMIM:271665
10Q22.3Q23.3 Microduplication Syndrome	Abnormal rib morphology, Abnormal clavicle morphology, Microcephaly	ORPHA:276422
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Thin ribs, Short stature, Brachydactyly	OMIM:618265
Osteogenesis Imperfecta, Type Xvi	Rhizomelia, Short stature, Short long bone, Multiple rib fractures, Angulated humerus, Narrow che...	OMIM:616229
3Mc Syndrome 3	Short stature, Clinodactyly, Radioulnar synostosis, Preaxial polydactyly, Growth delay	OMIM:248340
Hypochondroplasia	Short toe, Genu varum, Abnormal pelvic girdle bone morphology, Brachydactyly, Abnormality of femu...	ORPHA:429
Osteogenesis Imperfecta, Type X	Genu valgum, Broad ribs, Death in childhood, Thoracic hypoplasia, Rhizomelia, Short stature, Mult...	OMIM:613848
Dyssegmental Dysplasia, Silverman-Handmaker Type	Thoracic hypoplasia, Short long bone, Severe short stature, Disproportionate short-limb short sta...	OMIM:224410
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radius, Radioulnar syn...	OMIM:617604
Poland Syndrome	Spina bifida occulta, Abnormal rib morphology, Absent hand, Short ribs, Finger symphalangism, Abn...	ORPHA:2911
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Nephronophthisis 15	Polydactyly	OMIM:614845
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Tapered finger, Short stature, Macrocephaly, Clinodactyly of the 5th finger, Broad t...	OMIM:619721
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Camurati-Engelmann Disease	Leukopenia, Genu valgum, Anemia, Coxa valga, Abnormality of the humerus, Abnormal morphology of t...	ORPHA:1328
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand, Short stature	OMIM:245800
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Preaxial foot polydactyly, Postaxial foot polydactyly	OMIM:614120
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P...	OMIM:615986
Congenital Disorder Of Glycosylation, Type Iig	Broad femoral neck, Small hand, Rhizomelia, Short long bone, Short stature, Postnatal growth reta...	OMIM:611209
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Horizontal ribs, Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short long ...	OMIM:263520
Acromesomelic Dysplasia 1	Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo...	OMIM:602875
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Stillbirth	OMIM:263630
Holzgreve Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology, Hand polydactyly	ORPHA:2167
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Cuboidal metacarpal, Hip dislocation, Abnormal pelvic girdle bone morphology, A...	ORPHA:968
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Short 5th finger, Relative macrocephaly, Clinodactyly of the 5th finger, Syndactyly,...	ORPHA:397590
Microphthalmia With Limb Anomalies	Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Postnatal growth r...	OMIM:206920
Cenani-Lenz Syndrome	Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car...	ORPHA:3258
Meckel Syndrome, Type 8	Narrow chest, Polydactyly, Microcephaly, Talipes equinovarus	OMIM:613885
Carpenter Syndrome 1	Coxa valga, Toe syndactyly, Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida o...	OMIM:201000
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Progressive macrocephaly	OMIM:602501
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Microcephaly, Postaxial hand polydactyly, Broad ribs, Ab...	ORPHA:2519
Cole-Carpenter Syndrome	Crumpled long bones, Short stature, Abnormal rib morphology, Abnormal metaphysis morphology, Bowi...	ORPHA:2050
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo...	OMIM:609441
Acromelic Frontonasal Dysostosis	Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po...	OMIM:603671
Isolated Klippel-Feil Syndrome	Abnormal rib morphology, Sprengel anomaly, Abnormal shoulder morphology	ORPHA:2345
Pelger-Huet Anomaly	Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Macrocephaly, Sh...	OMIM:169400
Meier-Gorlin Syndrome 1	Coxa valga, Camptodactyly, Elbow dislocation, Absent sternal ossification, Lateral clavicle hook,...	OMIM:224690
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Abnormal ...	ORPHA:251014
Lambotte Syndrome	Preaxial foot polydactyly, Microcephaly, Intrauterine growth retardation	OMIM:245552
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, Short femur, Adducted ...	OMIM:616897
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Metaphyseal irregularity, Enlargement of the costochondral junction, Delayed epiphyseal ossificat...	OMIM:241530
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology, Disproportionate short-limb short stature, Microcephaly, Intrauterine gr...	ORPHA:2772
Ritscher-Schinzel Syndrome 3	Short first metatarsal, Short 1st metacarpal, Wide anterior fontanel, Death in infancy, Shortenin...	OMIM:619135
Uremic Pruritus	Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia	ORPHA:94059
Ivic Syndrome	Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno...	ORPHA:2307
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Missing ribs, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Long palm	ORPHA:2759
Atelosteogenesis, Type Ii	Bifid humerus, Flat acetabular roof, Hitchhiker thumb, Abnormal pelvic girdle bone morphology, Sa...	OMIM:256050
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b...	ORPHA:570
Temtamy Preaxial Brachydactyly Syndrome	Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty...	OMIM:605282
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Absent thumb, Coxa valga, Hip dislocation, Hepatosplenomegaly, Phocomeli...	OMIM:274000
Stromme Syndrome	Preaxial polydactyly, Microcephaly, Stillbirth	OMIM:243605
Coxoauricular Syndrome	Abnormality of femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology	ORPHA:1508
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos...	OMIM:618278
Joubert Syndrome 18	Camptodactyly, Intrauterine growth retardation, Trident pelvis, Bowing of the long bones, Postaxi...	OMIM:614815
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Campomelia, Cumming Type	Death in infancy, Abnormal thorax morphology, Clubbing of toes, Brachydactyly, Abnormal rib morph...	ORPHA:1318
Orofaciodigital Syndrome Vi	11 pairs of ribs, Preaxial hand polydactyly, Short stature, Toe syndactyly, Preaxial foot polydac...	OMIM:277170
Bent Bone Dysplasia Syndrome 2	Short tibia, Hypoplastic iliac wing, Short sternum, Hypoplastic acetabulae, Short 1st metacarpal,...	OMIM:620076
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Wide anterior fontanel, Slender long bone, Tibial bowing, Disproportionate s...	OMIM:259420
Vater/Vacterl Association	Triphalangeal thumb, Abnormal sternum morphology, Hypoplasia of the radius, Radioulnar synostosis...	OMIM:192350
Endosteal Hyperostosis, Autosomal Dominant	Thickened cortex of long bones, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal ...	OMIM:144750
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Metaphyseal irregularity, Enlargement of the costochondral junction, Delayed epiphyseal ossificat...	OMIM:264700
Acro-Renal-Mandibular Syndrome	Pectus carinatum, Finger syndactyly, Hypoplasia of the radius, Hip dislocation, Hypoplasia of the...	ORPHA:958
Kniest Dysplasia	Bell-shaped thorax, Dumbbell-shaped long bone, Short thorax, Abnormality of the epiphysis of the ...	ORPHA:485
Diamond-Blackfan Anemia 21	Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Short stature, ...	OMIM:620072
Curry-Jones Syndrome	Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Abno...	ORPHA:1553
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Abnormal pelvic girdle bone mo...	ORPHA:2928
Van Den Ende-Gupta Syndrome	Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ...	OMIM:600920
Pyknoachondrogenesis	Horizontal ribs, Enlarged thorax, Short thorax, Increased head circumference, Short long bone, Sh...	ORPHA:3003
Hereditary Renal Hypouricemia	Increased blood urea nitrogen, Hypouricemia	ORPHA:94088
Short-Rib Thoracic Dysplasia 12	Horizontal ribs, Short toe, Neonatal death, Short thorax, Short foot, Bowing of the arm, Short lo...	OMIM:269860
X-Linked Hypophosphatemia	Shortening of the talar neck, Abnormal lower-limb metaphysis morphology, Genu valgum, Genu varum,...	ORPHA:89936
Intellectual Developmental Disorder, Autosomal Dominant 36	Hip dysplasia, Deviation of the 5th finger, Pectus excavatum, Broad hallux, Microcephaly, Postaxi...	OMIM:616362
Chromosome 3Pter-P25 Deletion Syndrome	Tapered finger, Short stature, Overlapping toe, Microcephaly, Growth delay, Intrauterine growth r...	OMIM:613792
Cole-Carpenter Syndrome 2	Short stature, Macrocephaly, Pectus excavatum, Narrow iliac wing, Postnatal growth retardation, T...	OMIM:616294
Trisomy 1Q	Camptodactyly of finger, Preaxial hand polydactyly, Short thorax, Toe syndactyly, Macrocephaly, A...	ORPHA:261344
Campomelic Dysplasia	11 pairs of ribs, Short stature, Short long bone, Hypoplastic inferior ilia, Macrocephaly, Hip di...	ORPHA:140
Bardet-Biedl Syndrome 17	Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615994
Lethal Congenital Contracture Syndrome 10	Short long bone, Femoral bowing, Adducted thumb, Overlapping fingers, Narrow chest, Thoracic scol...	OMIM:617022
Orofaciodigital Syndrome X	Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia	OMIM:165590
Dysosteosclerosis	Short diaphyses, Short sternum, Broad femoral neck, Broad ribs, Short ribs, Sclerotic scapulae, P...	OMIM:224300
Septooptic Dysplasia	Polydactyly, Short finger, Short stature	OMIM:182230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Advanced ossification of carpal bones, Coxa valga, Hallux valgus, Large iliac wi...	OMIM:271640
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Upper limb undergrowth, Short femoral neck, Increased head circumference, Short long...	ORPHA:94068
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Aplasia/Hypoplasia of the fibula, Finger syndactyly, Short long bone, Hypoplasia of the ulna, Apl...	ORPHA:2256
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Metaphyseal Chondrodysplasia, Jansen Type	Metaphyseal cupping, Hip contracture, Short long bone, Short ribs, Clinodactyly of the 5th finger...	OMIM:156400
Achondroplasia	Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Short femur, Bowing of the legs, Fem...	OMIM:100800
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia	OMIM:235400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Genu varum, Metaphyseal irregularity, Fibular overgrowth, Thoracic hypoplasia, Short long bone, B...	ORPHA:93352
Carpenter Syndrome 2	Coxa vara, Cutaneous finger syndactyly, Short digit, Talipes equinovarus, Camptodactyly, Hitchhik...	OMIM:614976
Trisomy 13	Narrow chest, Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Bilateral ...	ORPHA:3378
Oculocerebrocutaneous Syndrome	Finger syndactyly, Missing ribs, Hand polydactyly, Congenital hip dislocation, Aplasia/Hypoplasia...	ORPHA:1647
Mucopolysaccharidosis, Type Iva	Pointed proximal second through fifth metacarpals, Genu valgum, Large elbow, Coxa valga, Prominen...	OMIM:253000
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Microcephaly, Short stature	OMIM:301022
Spondylocostal Dysostosis 1, Autosomal Recessive	Short stature, Death in infancy, Severe short stature, Rib fusion, Disproportionate short-trunk s...	OMIM:277300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Coat hanger sign of ribs, Wrist flexion contracture, Thoracic hypoplasia, Prominent sternum, Camp...	ORPHA:254528
Tarp Syndrome	Short sternum, Hypoplasia of the radius, Clinodactyly, Talipes equinovarus, Pectus excavatum, Sin...	OMIM:311900
Antley-Bixler Syndrome	Camptodactyly of finger, Narrow chest, Elbow ankylosis, Narrow pelvis bone, Femoral bowing, Arach...	ORPHA:83
Thoracomelic Dysplasia	Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Abnormality ...	ORPHA:1803
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Short long bone, Microcephaly, Brachydactyly, Short palm, Intrauterine growth r...	OMIM:619184
Martsolf Syndrome 1	Short phalanx of finger, Short toe, Broad femoral neck, Avascular necrosis of the capital femoral...	OMIM:212720
Tibial Hemimelia	Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me...	ORPHA:93322
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Short phalanx of finger, Short 5th metacarpal, Short stature, Large tarsal bones, Short long bone...	OMIM:215150
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Trapezoidal distal femoral condyles, Metaphyseal irregularity, Genu...	OMIM:307800
Joubert Syndrome 23	Polydactyly	OMIM:616490
Mucopolysaccharidosis, Type Ivb	Pointed proximal second through fifth metacarpals, Genu valgum, Coxa valga, Prominent sternum, Ul...	OMIM:253010
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Stuve-Wiedemann Syndrome 1	Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod...	OMIM:601559
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:274150
Microphthalmia With Limb Anomalies	Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali...	ORPHA:1106
Shwachman-Diamond Syndrome 1	Irregular ossification at anterior rib ends, Metaphyseal sclerosis, Coxa vara, Anterior rib cuppi...	OMIM:260400
Hypocalcemic Vitamin D-Dependent Rickets	Genu varum, Enlargement of the costochondral junction, Delayed epiphyseal ossification, Short sta...	ORPHA:289157
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:154230
Cartilage-Hair Hypoplasia	Abnormal distal phalanx morphology of finger, Metaphyseal chondrodysplasia, Limited elbow extensi...	ORPHA:175
Cantú Syndrome	Coxa valga, Finger syndactyly, Macrocephaly, Short hallux, Short distal phalanx of finger, Broad ...	ORPHA:1517
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius	OMIM:602200
Joubert Syndrome 15	Polydactyly	OMIM:614464
Cardioacrofacial Dysplasia 1	Genu valgum, Long thorax, Postaxial polydactyly	OMIM:619142
Basal Cell Nevus Syndrome 1	Bifid ribs, Polydactyly, Abnormal sternum morphology, Palmar pits, Short 4th metacarpal, Short ri...	OMIM:109400
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Meckel Syndrome, Type 2	Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Intrauterine growth retardation	OMIM:603194
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypoplastic pubic bone, Short long bone, Delayed ossification of carpal bones, Flared metaphysis,...	ORPHA:93346
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Marshall Syndrome	Coxa valga, Hypoplastic ilia, Radial bowing, Irregular distal femoral epiphysis, Ulnar bowing, Cl...	OMIM:154780
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Short ribs, Elbow flexion contracture, Cupped ribs, Interphalangeal joint contra...	ORPHA:1145
Joubert Syndrome 16	Polydactyly	OMIM:614465
Intellectual Developmental Disorder, Autosomal Dominant 23	Sandal gap, Postaxial polydactyly, Broad distal phalanx of finger	OMIM:615761
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Radial club hand, Preaxial hand polydactyly, Finger syndactyly, Toe syndacty...	ORPHA:959
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormal rib morphology, Sprengel anomaly, Abnormality of limb bone morphology	OMIM:118100
Mucopolysaccharidosis Type 6	Genu valgum, Epiphyseal dysplasia, Abnormal metaphysis morphology, Disproportionate short-trunk s...	ORPHA:583
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Lymphangiectasia, Intestinal	Prominent floating ribs, Stillbirth	OMIM:152800
Spondylocostal Dysostosis 5	Supernumerary ribs, Missing ribs, Posterior rib fusion, Severe short stature, Disproportionate sh...	OMIM:122600
Bardet-Biedl Syndrome 19	Postaxial polydactyly	OMIM:615996
Atelosteogenesis Type I	Thoracic hypoplasia, Abnormal ossification involving the femoral head and neck, Rhizomelia, Short...	ORPHA:1190
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short phalanx of finger, Broad phalanges of the hand, Preaxial hand polydactyly, Limited elbow mo...	ORPHA:508533
Campomelic Dysplasia	Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Hip dislocation, Metatarsus adductus...	OMIM:114290
Johnson Neuroectodermal Syndrome	Severe short stature, Preaxial hand polydactyly, Hand polydactyly, Microcephaly	ORPHA:2316
Atelosteogenesis, Type I	Short metacarpal, Multinucleated giant chondrocytes in epiphyseal cartilage, Radial bowing, Tibia...	OMIM:108720
Mucopolysaccharidosis, Type X	Genu valgum, Broad clavicles, Hip dysplasia, Irregular acetabular roof, Spatulate ribs, Dispropor...	OMIM:619698
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Partial fusion of tarsals, Genu valgum, Broad phalanges of the hand, Cox...	OMIM:305620
Shwachman-Diamond Syndrome 2	Genu varum, Metaphyseal irregularity, Anterior rib cupping, Short stature, Death in infancy, Micr...	OMIM:617941
Cartilage-Hair Hypoplasia	Absent pubertal growth spurt, Metaphyseal cupping, Coxa vara, Prominent sternum, Narrow chest, Fl...	OMIM:250250
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Humeroradial synostosis, Aplasia/hypoplasia of the femur, Elbow flexion contracture, Hip dislocat...	OMIM:276820
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Short stature	ORPHA:2578
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint, Short stature	ORPHA:2234
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic arm shortening, Bell-shaped thorax, Rhizomelic leg shortening, Thoracic hypoplasia, Sh...	ORPHA:397715
Syngap1-Related Developmental And Epileptic Encephalopathy	Microcephaly, Postaxial polydactyly	ORPHA:544254
Joubert Syndrome 27	Polydactyly	OMIM:617120
Rothmund-Thomson Syndrome Type 2	Short phalanx of finger, Genu varum, Abnormality of the radial head, Anemia, Metaphyseal sclerosi...	ORPHA:221016
Rothmund-Thomson Syndrome Type 1	Short phalanx of finger, Genu varum, Abnormality of the radial head, Anemia, Metaphyseal sclerosi...	ORPHA:221008
9Q21.13 Microdeletion Syndrome	Polydactyly, Postnatal growth retardation, Hip dysplasia	ORPHA:531151
Meckel Syndrome, Type 10	Camptodactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Uln...	OMIM:614175
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Tapered finger, Finger syndactyly, Ulnar deviation of finger, Metatarsus...	ORPHA:2215
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration	ORPHA:230
Acrorenal-Mandibular Syndrome	Toe syndactyly, Foot polydactyly, Hypoplasia of the radius, Missing ribs, Hand polydactyly, Hip d...	OMIM:200980
Osteogenesis Imperfecta, Type Viii	Wide anterior fontanel, Short metacarpal, Femoral retroversion, Radial bowing, Slender long bone,...	OMIM:610915
Fibrous Dysplasia Of Bone	Coxa vara, Abnormality of the humerus, Abnormal morphology of the radius, Abnormal pelvis bone mo...	ORPHA:249
Spondylocostal Dysostosis 2, Autosomal Recessive	Disproportionate short-trunk short stature, Rib fusion	OMIM:608681
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horizontal ribs, Short stature, Short long bone, Short ribs, Narrow chest, Aplasia of the epiglot...	OMIM:617088
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Microcephaly	ORPHA:280195
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Coxa valga, Thoracic hypoplasia, Epiphyseal stippling, Camptodactyly, Metatarsus add...	ORPHA:96334
Suleiman-El-Hattab Syndrome	Polydactyly, Clinodactyly, Single transverse palmar crease, Microcephaly, Brachydactyly	OMIM:618950
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camptodactyly, Metatarsal...	ORPHA:95699
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Protrusio acetabuli, Coxa vara, Wide anterior fontanel, Femoral retroversion...	OMIM:610682
Hurler Syndrome	Camptodactyly of finger, Abnormality of the elbow, Short stature, Death in infancy, Narrow pelvis...	ORPHA:93473
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:223900
Femoral-Facial Syndrome	Hypoplastic acetabulae, Preaxial hand polydactyly, Limited elbow movement, Humeroradial synostosi...	OMIM:134780
Mandibulofacial Dysostosis, Guion-Almeida Type	Preaxial hand polydactyly, Short stature, Progressive microcephaly, Proximal placement of thumb, ...	OMIM:610536
Gillessen-Kaesbach-Nishimura Syndrome	Wide anterior fontanel, Short long bone, Microcephaly, Ulnar deviation of the hand, Narrow greate...	OMIM:263210
Ulnar-Mammary Syndrome	Camptodactyly of finger, Abnormal finger morphology, Aplasia of the pectoralis major muscle, Abno...	ORPHA:3138
Cranioectodermal Dysplasia 3	2-3 toe syndactyly, Rhizomelia, Short stature, Narrow chest, Macrocephaly, Sandal gap, Brachydact...	OMIM:614099
Maternal Uniparental Disomy Of Chromosome 2	Preaxial hand polydactyly, Clinodactyly of the 5th finger, Miscarriage, Intrauterine growth retar...	ORPHA:96179
Kinsship Syndrome	Polydactyly, Coxa valga, Short stature, Death in infancy, Primary microcephaly, Supernumerary rib...	OMIM:619297
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Polydactyly, Postaxial foot polydactyly	OMIM:607361
Cerebrocostomandibular Syndrome	11 pairs of ribs, Bell-shaped thorax, Rib gap, Thoracic hypoplasia, Calcaneal epiphyseal stipplin...	OMIM:117650
Orofaciodigital Syndrome Xiv	Short ribs, Aplasia of the epiglottis, Broad hallux, Preaxial polydactyly, Microcephaly, Postaxia...	OMIM:615948
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Sclerosteosis 1	2-3 finger syndactyly, Broad clavicles, Sclerotic scapulae, Abnormal pelvic girdle bone morpholog...	OMIM:269500
Prune Belly Syndrome	Abnormal rib morphology, Congenital hip dislocation, Talipes equinovarus, Pectus excavatum	ORPHA:2970
Robinow Syndrome, Autosomal Recessive 1	Pectus excavatum, Dislocated radial head, Radial deviation of finger, Short palm, Aplasia/Hypopla...	OMIM:268310
Paget Disease Of Bone 2, Early-Onset	Femoral bowing, Short femur, Osteosclerosis of the ulna, Bowing of the long bones, Fractures of t...	OMIM:602080
Mandibulofacial Dysostosis-Microcephaly Syndrome	Secondary microcephaly, Preaxial hand polydactyly, Short stature	ORPHA:79113
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Rhombencephalosynapsis	Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, M...	ORPHA:59315
Oculoauriculovertebral Spectrum With Radial Defects	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Short stature	ORPHA:2549
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu valgum, Wide anterior fontanel, Joint contracture of the hand, Supernumerary ribs, Camptodac...	OMIM:182212
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Humeroradial synostosis, Narrow pelvis bone, Ulnar bowing, Camptodactyly, Femoral bowing, Arachno...	OMIM:207410
Mucopolysaccharidosis, Type Vi	Hypoplastic iliac wing, Metaphyseal irregularity, Hypoplastic acetabulae, Genu valgum, Prominent ...	OMIM:253200
Axial Mesodermal Dysplasia Spectrum	Abnormal rib morphology, Missing ribs, Short stature, Abnormal pelvic girdle bone morphology	ORPHA:1834
Hyperparathyroidism, Transient Neonatal	Undulate ribs, Short long bone, Short ribs, Femoral bowing, Short femur, Fractured rib, Narrow ch...	OMIM:618188
Joubert Syndrome 7	Postaxial hand polydactyly, Genu valgum, Postaxial polydactyly	OMIM:611560
Kbg Syndrome	Short stature, Thoracic kyphosis, Clinodactyly of the 5th finger, Cervical ribs, Syndactyly, Sing...	OMIM:148050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	2-3 toe syndactyly, Preaxial hand polydactyly, Short 5th finger, Short stature, Thoracic kyphosis...	ORPHA:508498
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Short stature, Broad metatarsal, Broad metacarpals, Brachydactyly, P...	OMIM:277600
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Hip dysplasia, Microcephaly, Growth delay, Intrauterine growth retardation, Pos...	OMIM:614576
Radio-Renal Syndrome	Abnormality of the elbow, Hypoplasia of the radius, Severe short stature, Brachydactyly, Abnormal...	ORPHA:3015
Mosaic Trisomy 8	Camptodactyly of finger, Patellar aplasia, Short stature, Narrow chest, Narrow pelvis bone, Clino...	ORPHA:96061
Oculodentodigital Dysplasia	Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Clinodacty...	ORPHA:2710
Rhyns Syndrome	Short femoral neck, Short stature, Short long bone, Radial bowing, Brachydactyly	OMIM:602152
Lenz-Majewski Hyperostotic Dwarfism	Proximal symphalangism of hands, Broad ribs, Hyperextensibility of the finger joints, Humeroradia...	OMIM:151050
Fanconi Anemia	Triphalangeal thumb, Leukopenia, Anemia, Abnormality of the upper limb, Finger syndactyly, Toe sy...	ORPHA:84
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Abnormal rib morphology, Sprengel anomaly, Short stature	OMIM:601076
Alagille Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the ulna, Spina bifida occulta, Delayed puberty, Ab...	ORPHA:52
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Mild short stature, Microcephaly, Short stature, Thin ribs	OMIM:614833
Rothmund-Thomson Syndrome	Broad ulna, Anemia, Neutropenia, Metaphyseal striations, Hypoplasia of the ulna, Palmar hyperkera...	ORPHA:2909
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Abnormal thorax morphology, Epiphyseal stippling, Abnormal pelvic girdle bone morphol...	OMIM:302960
3P25.3 Microdeletion Syndrome	Tapered finger, 2-3 finger syndactyly, Congenital pseudoarthrosis of the clavicle, Broad hallux, ...	ORPHA:435638
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Osteopetrosis, Autosomal Recessive 7	Increased head circumference, Death in infancy, Multiple rib fractures, Growth delay, Femur fract...	OMIM:612301
Congenital Erythropoietic Porphyria	Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	ORPHA:79277
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Pectus excavatum, Broad hallux, Short hallux, Postaxial hand polydactyly, Undulat...	OMIM:304120
Acrocallosal Syndrome	Bifid distal phalanx of the thumb, Preaxial hand polydactyly, Tapered finger, Wide anterior fonta...	OMIM:200990
Craniometaphyseal Dysplasia, Autosomal Dominant	Erlenmeyer flask deformity of the femurs, Abnormal pelvic girdle bone morphology, Club-shaped dis...	OMIM:123000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Macrocephaly, Postaxial polydactyly	OMIM:603387
Spondylocostal Dysostosis 4, Autosomal Recessive	Bell-shaped thorax, Short thorax, Short stature, Missing ribs, Pectus excavatum, Spina bifida occ...	OMIM:613686
Apert Syndrome	Broad distal phalanx of the thumb, Rhizomelic arm shortening, Broad distal hallux, Preaxial hand ...	OMIM:101200
Multiple Pterygium Syndrome, X-Linked	Short finger, Intrauterine growth retardation, Thin ribs	OMIM:312150
Igg4-Related Retroperitoneal Fibrosis	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:49041
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin metatarsal cortices, Slender long bone, Small hypothenar eminence, Pectus excavatum, Thin me...	ORPHA:2463
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Metaphyseal irregularity, Genu valgum, Tapered finger, Short thorax, Short stature, Short long bo...	OMIM:616007
Schwartz-Jampel Syndrome	Metatarsus valgus, Wrist flexion contracture, Coxa valga, Pectus excavatum, Elbow dislocation, Ab...	ORPHA:800
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Slender long bone, Clinodactyly of ...	ORPHA:2554
Geleophysic Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Short foot, Joint contracture of ...	OMIM:231050
Myhre Syndrome	Large iliac wing, Intrauterine growth retardation, Severe short stature, Brachydactyly, Abnormal ...	ORPHA:2588
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius, Abnormal rib morp...	ORPHA:887
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Short long bone, Flattened femoral head, Flared iliac wing, Acetabular...	ORPHA:79255
Pallister-Hall Syndrome	Mesoaxial foot polydactyly, Neonatal death, Short 4th metacarpal, Short stature, Toe syndactyly, ...	OMIM:146510
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Bowing of the long bones, Femoral bowing	OMIM:617952
Premature Aging Syndrome, Penttinen Type	Short foot, Slender long bone, Macrocephaly, Palmoplantar hyperkeratosis, Cervical ribs, Flexion ...	OMIM:601812
Trisomy 18	Camptodactyly of finger, Abnormality of the upper limb, Short stature, Narrow pelvis bone, Intrau...	ORPHA:3380
Pseudoaminopterin Syndrome	Hip subluxation, Short 4th metacarpal, Limited elbow movement, Prominent sternum, Short stature, ...	ORPHA:221120
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle bone morphology, Abnorm...	ORPHA:3429
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Abnormal pelvic girdle bone morphology	OMIM:607634
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Polydactyly	OMIM:616629
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Finger syndactyly, Death in infancy, Toe syndactyly, Synostosis of carpa...	ORPHA:1507
Aspergillosis	Abnormal rib morphology, Abnormal long bone morphology	ORPHA:1163
Multiple Pterygium Syndrome, Lethal Type	Short finger, Intrauterine growth retardation, Thin ribs	OMIM:253290
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Hypoplastic iliac wing, Genu varum, Metaphyseal irregularity, Genu valgum, Upper limb undergrowth...	ORPHA:93315
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Macrocephaly at birth, Miscarriage, Thin ribs	ORPHA:169189
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Deviation of the 5th fing...	OMIM:143095
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Severe Congenital Nemaline Myopathy	Adducted thumb, Abnormal thorax morphology, Thin ribs	ORPHA:171430
Ulbright-Hodes Syndrome	Short sternum, Humeroradial synostosis, Short metacarpal, Hypoplasia of the radius, Short ribs, P...	ORPHA:3404
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Aplasia/hypoplasia of the femur, Missing ribs, Clinodactyly of the 5th finger,...	ORPHA:2769
Cardiofaciocutaneous Syndrome	Genu valgum, Abnormal morphology of ulna, Palmoplantar keratoderma, Cubitus valgus, Deep palmar c...	ORPHA:1340
Phocomelia, Schinzel Type	Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Radial bowing, Aplasia of t...	ORPHA:2879
Brachytelephalangic Chondrodysplasia Punctata	Epiphyseal stippling of toe phalanges, Stippling of the epiphyses of the distal phalanges of the ...	ORPHA:79345
Kagami-Ogata Syndrome	Bell-shaped thorax, Coxa valga, Long clavicles, Long fingers, Thin ribs	OMIM:608149
Myhre Syndrome	Hypoplastic iliac wing, 2-3 toe syndactyly, Short toe, Birth length less than 3rd percentile, Sho...	OMIM:139210
Lacrimoauriculodentodigital Syndrome 1	Triphalangeal thumb, 2-3 finger syndactyly, Hypoplasia of the radius, Clinodactyly of the 5th fin...	OMIM:149730
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short metacarpal, Short stature, Broad skull, Elbow flexion contract...	OMIM:608328
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Coxa valga, Flared iliac wing, Camptodactyly, Hip dislocation, Pectus excavatum,...	OMIM:252500
Osteogenesis Imperfecta	Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Abnormal rib morphology, Abnormal ...	ORPHA:666
Curry-Jones Syndrome	Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, Broad thumb, Triphal...	OMIM:601707
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Osteogenesis Imperfecta, Type Xv	Short stature, Thin ribs	OMIM:615220
Camptodactyly Syndrome, Guadalajara Type 3	Broad femoral neck, Small hand, Thickened cortex of long bones, Spina bifida occulta, Abnormal ri...	ORPHA:488434
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Split hand, Abnormal rib morphology, Finger syndactyly	ORPHA:1300
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Abnormal sternum morp...	ORPHA:2990
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Bifid ribs, Hyperextensibility of the finger joints, Short stature, Narrow chest, Macrocephaly, P...	OMIM:213980
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Flexion contracture of toe, Short stature, Macrocephaly, Camptodac...	OMIM:300373
Wolf-Hirschhorn Syndrome	Preaxial hand polydactyly, Short stature, Pseudoepiphyses of the metacarpals, Preaxial foot polyd...	OMIM:194190
Schinzel-Giedion Midface Retraction Syndrome	Short sternum, Hypoplasia of first ribs, Wide distal femoral metaphysis, Short 1st metacarpal, Po...	OMIM:269150
Tetraamelia-Multiple Malformations Syndrome	Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, Missing ribs	ORPHA:3301
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Short stature, Macrocephaly, Short palm, 3-4 finger syndactyly, Metaphyseal d...	OMIM:619727
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Joubert Syndrome 37	Short stature, Postaxial polydactyly	OMIM:619185
Cog1-Cdg	Coxa valga, Rhizomelia, Short long bone, Flat acetabular roof, Progressive microcephaly, Posterio...	ORPHA:263508
Cerebrocostomandibular Syndrome	Bell-shaped thorax, Short stature, Death in infancy, Clinodactyly of the 5th finger, Posterior ri...	ORPHA:1393
Meier-Gorlin Syndrome 7	2-3 toe syndactyly, Preaxial hand polydactyly, Wide anterior fontanel, Short stature, 2-4 finger ...	OMIM:617063
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia, Postnatal growth retardation	ORPHA:254534
Faciocardiomelic Syndrome	Polydactyly, Slender long bone, Hypoplastic pelvis, Microcephaly, Narrow chest	OMIM:612731
Occipital Horn Syndrome	Genu valgum, Coxa valga, Broad ribs, Capitate-hamate fusion, Broad clavicles, Narrow chest, Pelvi...	OMIM:304150
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
Tarp Syndrome	Short sternum, Finger syndactyly, Clinodactyly, Hand polydactyly, Talipes equinovarus, Pectus exc...	ORPHA:2886
Sponastrime Dysplasia	Hip subluxation, Flat capital femoral epiphysis, Hip dislocation, Ivory epiphyses of the phalange...	ORPHA:93357
Multiple Pterygium Syndrome, Escobar Variant	Patellar aplasia, Short stature, Camptodactyly of toe, Camptodactyly, Hip dislocation, Acetabular...	OMIM:265000
Autosomal Recessive Malignant Osteopetrosis	Narrow chest, Macrocephaly, Growth delay, Abnormal rib morphology, Abnormal metaphysis morphology...	ORPHA:667
Mucopolysaccharidosis, Type Iiid	Thickened ribs, Short stature, Hip dysplasia, Elbow flexion contracture, Macrocephaly, Epiphyseal...	OMIM:252940
Ulnar-Mammary Syndrome	Short 5th toe, Aplasia of the 3rd finger, Aplasia of the 5th metacarpal, Deformed radius, Short 5...	OMIM:181450
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Genu valgum, Short femoral neck, Short stature, ...	OMIM:619127
Wolf-Hirschhorn Syndrome	Preaxial hand polydactyly, Hypoplastic pubic rami, Abnormal thorax morphology, Rib segmentation a...	ORPHA:280
Cerebrofaciothoracic Dysplasia	Bifid ribs, Short stature, Macrocephaly, Sprengel anomaly, Rib fusion, Narrow chest	ORPHA:1394
Monosomy 9Q22.3	Palmar pits, Polydactyly, Macrocephaly, Pectus excavatum, Abnormal rib morphology	ORPHA:77301
Duane Retraction Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Hypoplasia of th...	ORPHA:233
Osteopetrosis, Autosomal Dominant 2	Fractures of the long bones, Abnormal pelvic girdle bone morphology	OMIM:166600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Palmoplantar hyperhidrosis, Cessation of head growth, Progressive microcephaly, Single transverse...	OMIM:617527
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Thoracic hypoplasia, Short long bone, Disproportionate short-limb short stature, Bowed humerus, B...	OMIM:619479
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Thin ribs	OMIM:300219
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	2-3 toe syndactyly, Postaxial foot polydactyly, Postaxial polydactyly, Broad distal phalanx of fi...	ORPHA:404440
Frank-Ter Haar Syndrome	Short phalanx of finger, Wide anterior fontanel, Short long bone, Broad clavicles, Hip dysplasia,...	OMIM:249420
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Short toe, Finger syndactyly, Death in infancy, Toe syndactyly, Macrocep...	ORPHA:373
Orofaciodigital Syndrome Type 2	Short tibia, Broad first metatarsal, Finger syndactyly, Short stature, Preaxial foot polydactyly,...	ORPHA:2751
Proximal 16P11.2 Microdeletion Syndrome	Rib fusion, Macrocephaly, Hand polydactyly	ORPHA:261197
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Broad long bone diaphyses, Genu valgum, Tapered finger, Hip dysplasia, Macrocephaly, Hip dislocat...	OMIM:301066
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Horizontal ribs, Bell-shaped thorax, Growth delay	OMIM:614857
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Wrist flexion contracture, Hip contracture, Thoracic hypoplasia, Ulnar d...	OMIM:208150
Cranioectodermal Dysplasia 2	Horizontal ribs, Polydactyly, Rhizomelia, Short stature, Short ribs, Narrow chest, Clinodactyly, ...	OMIM:613610
Smith-Lemli-Opitz Syndrome	2-3 toe syndactyly, Finger syndactyly, Rhizomelia, Short stature, Abnormal metacarpal morphology,...	ORPHA:818
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Finger syndactyly, Short stature, Abnormal metacarpal morphology, Palmop...	ORPHA:2907
Aicardi Syndrome	Bifid ribs, Small hand, Hip dysplasia, Supernumerary ribs, Missing ribs, Delayed puberty, Rib fus...	ORPHA:50
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5th finger, Single...	OMIM:247200
Orofaciodigital Syndrome Type 1	Short toe, Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Hand polydactyly, Clin...	ORPHA:2750
Hallermann-Streiff Syndrome	Slender long bone, Abnormal rib cage morphology, Pectus excavatum, Decreased number of sternal os...	OMIM:234100
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Rib fusion	ORPHA:544488
Kagami-Ogata Syndrome	Coat hanger sign of ribs, Bell-shaped thorax, Thoracic hypoplasia, Coxa valga, Postnatal growth r...	ORPHA:254519
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Polydactyly, Postaxial foot polydactyly	OMIM:615989
Bardet-Biedl Syndrome 1	Foot polydactyly, Macrocephaly, Postaxial foot polydactyly, Syndactyly, Radial deviation of finge...	OMIM:209900
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Intrauterine growth retardation, Short stature	ORPHA:1297
Chondrodysplasia-Disorder Of Sex Development Syndrome	Short phalanx of finger, Short metacarpal, Abnormal pelvic girdle bone morphology, Broad long bon...	ORPHA:1422
Trisomy 20P	Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Brachydactyly, Abnormal hi...	ORPHA:261318
Congenital Sialidosis Type 2	Polydactyly, Macrocephaly	ORPHA:93400
Legius Syndrome	Polydactyly, Abnormal sternum morphology, Short stature, Macrocephaly, Clinodactyly of the 5th fi...	ORPHA:137605
Fanconi Anemia, Complementation Group D2	Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t...	OMIM:227646
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus	ORPHA:1827
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Preaxial hand polydactyly, Short thorax, Short ribs, Short palm, Narrow chest, Macrocephaly, Abno...	ORPHA:93271
Adnp Syndrome	2-3 toe syndactyly, Polydactyly, Abnormal finger morphology, Short stature, Broad hallux, Abnorma...	ORPHA:404448
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Microcephaly, Sandal gap, Postaxial hand polydactyly, Postaxial polyd...	OMIM:174300
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Hallux valgus, Short stature, Primary microcephaly, Toe syndactyly, Clinodactyly of ...	ORPHA:464306
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Tapered finger, Small hand, Short stature, Hip dysplasia, Hip dislocation, Short foot, Postaxial ...	OMIM:300968
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Robinow Syndrome, Autosomal Dominant 1	Wide anterior fontanel, Short middle phalanx of the 5th finger, Duplication of the distal phalanx...	OMIM:180700
Meckel Syndrome 14	Postaxial foot polydactyly, Syndactyly, Postaxial hand polydactyly, Bowing of the long bones, Pos...	OMIM:619879
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ...	ORPHA:2753
Rubinstein-Taybi Syndrome 1	Polydactyly, Flared iliac wing, Pectus excavatum, Duplication of phalanx of hallux, Dislocated ra...	OMIM:180849
Bardet-Biedl Syndrome 20	Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial foot polydactyly	OMIM:619471
Cornelia De Lange Syndrome	Small hand, Short 1st metacarpal, Toe syndactyly, Hip dysplasia, Hip dislocation, Radioulnar syno...	ORPHA:199
Aicardi Syndrome	Bifid ribs, Supernumerary ribs, Missing ribs, Rib fusion, Proximal placement of thumb, Microcepha...	OMIM:304050
Dextrocardia	Abnormal rib morphology, Congenital hip dislocation	ORPHA:1666
Lethal Congenital Contracture Syndrome 5	Death in infancy, Thin ribs	OMIM:615368
Gm1-Gangliosidosis, Type I	Severe short stature, Thickened ribs, Intrauterine growth retardation, Death in infancy	OMIM:230500
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Joubert Syndrome 14	Growth delay, Postaxial polydactyly	OMIM:614424
Baller-Gerold Syndrome	Absent thumb, Aplasia of metacarpal bones, Aphalangy of the hands, Spina bifida occulta, Carpal s...	OMIM:218600
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Short stature, Rib osteolysis, Osteolytic defects of the distal phalanges...	OMIM:614008
Bartsocas-Papas Syndrome 1	Short phalanx of finger, Hypoplastic iliac wing, Absent thumb, Short metacarpal, Ulnar bowing, Ab...	OMIM:263650
Monosomy 9P	Abnormality of the tarsal bones, Proximal placement of thumb, Microcephaly, Bilateral single tran...	ORPHA:261112
Orofaciodigital Syndrome I	Polydactyly, Short stature, Clinodactyly, Syndactyly, Short 2nd toe, Radial deviation of finger, ...	OMIM:311200
Mend Syndrome	2-3 toe syndactyly, Polydactyly, Short stature, Overlapping toe, Broad hallux, Overlapping finger...	OMIM:300960
Fryns Syndrome	Broad ribs, Thoracic hypoplasia, Joint contracture of the hand, Camptodactyly, Single transverse ...	OMIM:229850
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Preaxial hand polydactyly, Finger syndactyly, Broad hallux phalanx	ORPHA:2211
Alpha-Mannosidosis, Infantile Form	Genu valgum, Thickened ribs, Hypoplastic inferior ilia, Macrocephaly, Cortical thickening of long...	ORPHA:309282
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs	ORPHA:456328
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Macrocephaly, Postaxial polydactyly, Postnatal growth retardation	OMIM:605627
Townes-Brocks Syndrome	Triphalangeal thumb, Preaxial hand polydactyly, Short stature, Aplasia/Hypoplasia of the 3rd toe,...	ORPHA:857
Culler-Jones Syndrome	Short stature, Postaxial polydactyly	OMIM:615849
Townes-Brocks Syndrome 1	Triphalangeal thumb, 2-3 toe syndactyly, Preaxial hand polydactyly, Aplasia/Hypoplasia of the 3rd...	OMIM:107480
Choanal Atresia	Polydactyly	ORPHA:137914
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Genu valgum, Tapered finger, Small hand, Short stature, Short 4th toe, Short lower l...	OMIM:615873
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, Decreased serum iron, Reduced hap...	ORPHA:447
Pseudo-Torch Syndrome 2	Microcephaly, Thin ribs	OMIM:617397
Mucopolysaccharidosis Type 3	Genu valgum, Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Macrocephaly, Ab...	ORPHA:581
Microphthalmia, Syndromic 3	Short stature, Supernumerary ribs, Missing ribs, Rib fusion, Microcephaly, Postnatal growth retar...	OMIM:206900
Pallister-Hall Syndrome	Short 4th metacarpal, Short stature, Toe syndactyly, Radial bowing, Mesoaxial polydactyly, 3-4 fi...	ORPHA:672
Rabson-Mendenhall Syndrome	Polydactyly, Severe postnatal growth retardation, Intrauterine growth retardation, Short stature	ORPHA:769
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Single transvers...	ORPHA:83617
Pagod Syndrome	Short stature, Death in infancy, Abnormal clavicle morphology, Microcephaly, Abnormal rib morphology	ORPHA:991
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Robinow Syndrome	Bifid distal phalanx of the thumb, Radioulnar dislocation, Short stature, Missing ribs, Macroceph...	ORPHA:97360
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Short femur, Growth delay, Microcephaly, Short humerus	ORPHA:17
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Short 4th metacarpal, Finger syndactyly, Short 5th metacarpal, Abnormal ...	ORPHA:2908
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Hydrolethalus Syndrome 1	Upper limb undergrowth, Preaxial hand polydactyly, Proximal tibial hypoplasia, Duplication of pha...	OMIM:236680
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hip dysplasia, Clinodactyly of the 5th finger, Pectus excavatum, Broad hallux, Postaxial polydactyly	ORPHA:457284
Charge Syndrome	Short stature, Clinodactyly of the 5th finger, Bifid femur, Abnormality of tibia morphology, Dela...	ORPHA:138
Meckel Syndrome, Type 1	Camptodactyly of finger, Foot polydactyly, Clinodactyly, Postaxial foot polydactyly, Syndactyly, ...	OMIM:249000
Khan-Khan-Katsanis Syndrome	Short stature, Clinodactyly, Microcephaly, Intrauterine growth retardation, Postaxial polydactyly	OMIM:618460
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short 5th toe, Polydactyly, Tapered finger, Hallux valgus, Short stature, 2-4 toe cutaneous synda...	ORPHA:268261
Mucopolysaccharidosis, Type Iiib	Thickened ribs	OMIM:252920
Zttk Syndrome	Small hand, Short stature, Relative macrocephaly, Macrocephaly, Cervical ribs, Rib fusion, Growth...	OMIM:617140
Au-Kline Syndrome	Coxa valga, Hip dysplasia, Clinodactyly of the 5th finger, Pectus excavatum, Overlapping toe, Dee...	OMIM:616580
Simpson-Golabi-Behmel Syndrome, Type 1	2-3 finger syndactyly, Flared iliac wing, Cervical ribs, Pectus excavatum, Postaxial hand polydac...	OMIM:312870
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the phal...	ORPHA:1112
Mucopolysaccharidosis, Type Iiia	Thickened ribs	OMIM:252900
Meckel Syndrome	Preaxial hand polydactyly, Postaxial foot polydactyly, Microcephaly, Postaxial hand polydactyly, ...	ORPHA:564
Joubert Syndrome 39	Postaxial polydactyly, Joint contracture of the 5th finger	OMIM:619562
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly, Microcephaly, Short stature	OMIM:619869
Cardiospondylocarpofacial Syndrome	Pseudoepiphyses, Short stature, Carpal synostosis, Rib fusion, Brachydactyly, Tarsal synostosis, ...	OMIM:157800
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Broad metatarsal, Broad ribs, Broa...	ORPHA:228123
Wiedemann-Rautenstrauch Syndrome	Genu varum, Hypoplastic ilia, Large hands, Short stature, Slender long bone, Clinodactyly, Macroc...	OMIM:264090
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Flaring of rib cage, Broad ribs	OMIM:612852
Mucopolysaccharidosis, Type Iiic	Thickened ribs	OMIM:252930
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Protrusio acetabuli, Palmoplantar cutis laxa, Congenital hip dislocation, Arachnodactyly, Talipes...	OMIM:225400
Oculocerebrorenal Syndrome Of Lowe	Genu valgum, Short stature, Death in infancy, Hip dislocation, Delayed puberty, Abnormal rib morp...	ORPHA:534
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Thickened ribs, Short stature, Hip dysplasia, Macrocephaly, Growth delay...	ORPHA:217085
1P36 Deletion Syndrome	Camptodactyly of finger, 11 pairs of ribs, Bifid ribs, Short stature, Foot polydactyly, Hip dyspl...	ORPHA:1606
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Thickened ribs, Short stature, Hip dysplasia, Macrocephaly, Growth delay...	ORPHA:217093
Schinzel-Giedion Syndrome	Hypoplastic pubic bone, Wide anterior fontanel, Short 1st metacarpal, Abnormal thorax morphology,...	ORPHA:798
Charge Syndrome	Abnormal palmar dermatoglyphics, Hand monodactyly, Absent tibia, Hand polydactyly, Bifid femur, D...	OMIM:214800
Degcags Syndrome	Polydactyly, Genu valgum, Preaxial hand polydactyly, Toe syndactyly, Syndactyly, Microcephaly, Sh...	OMIM:619488
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Deviation of the hallux, Avascular necrosis of the capital femoral epiphysis, Short ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Deviation of the hallux, Avascular necrosis of the capital femoral epiphysis, Short ...	ORPHA:353277
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Missing ribs, Rib fusion, Short ribs	OMIM:271520
Loeys-Dietz Syndrome 2	Protrusio acetabuli, Abnormal sternum morphology, Joint contracture of the hand, Talipes equinova...	OMIM:610168
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, 11 pairs of ribs, Bifid ribs, Short 5th finger, Wide anterior fontanel, ...	OMIM:607872
Aspartylglucosaminuria	Abnormal morphology of ulna, Splenomegaly	ORPHA:93
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hip dysplasia, Growth delay, Microcephaly, Postaxial polydactyly, Talipes equinovarus	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hip dysplasia, Growth delay, Microcephaly, Postaxial polydactyly, Talipes equinovarus	ORPHA:352665
Microphthalmia, Syndromic 6	Polydactyly, Contracture of thumb, Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th fin...	OMIM:607932
Pontine Tegmental Cap Dysplasia	Rib fusion	OMIM:614688
Alagille Syndrome 1	Abnormal rib morphology, Short distal phalanx of finger, Hypoplasia of the ulna	OMIM:118450
Okamoto Syndrome	Polydactyly, Severe postnatal growth retardation, Microcephaly, Hip dysplasia	ORPHA:2729
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tapered finger, Hallux valgus, Small hand, Short stature, Hip dysplasia, Overlapping toe, Congeni...	ORPHA:480880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Relative macrocephaly, Cervical ribs, Rib fusion, Arachnodactyly...	ORPHA:500150
Branchiooculofacial Syndrome	Preaxial hand polydactyly, Elbow flexion contracture, Clinodactyly of the 5th finger, Single tran...	OMIM:113620
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Humeroradial synostosis, Joint contracture of the hand, Radioulnar synostosis, Camptodactyly, Car...	OMIM:201750
Restrictive Dermopathy	Camptodactyly of finger, Thin clavicles, Aplasia/Hypoplasia of the clavicles, Thoracic kyphoscoli...	ORPHA:1662
Roberts-Sc Phocomelia Syndrome	Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Abnormal met...	OMIM:268300
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Delayed puberty, Pituitary dwarfism, Growth delay, Abnormal digit morphology	ORPHA:95494
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad first metatarsal, Polydactyly, Short stature, Syndactyly, Broad thumb, Neonatal death, Post...	OMIM:619534
Osteopetrosis With Renal Tubular Acidosis	Prominent floating ribs, Short stature, Pectus excavatum	ORPHA:2785

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 Ift80

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Ift80.

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)	Ift80^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Ift80^{tm1a(KOMP)Wtsi} Ift80^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Ift80^{tm1a(KOMP)Wtsi} Ift80^{tm1a(KOMP)Wtsi}	PMC6459510
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.	Proceedings of the National Academy of Sciences of the United States of America (October 2017)	Ift80^{tm1a(KOMP)Wtsi}	PMC5676932
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Ift80^{tm1a(KOMP)Wtsi}	PMC5827107
Identification of G Protein-Coupled Receptors (GPCRs) in Primary Cilia and Their Possible Involvement in Body Weight Control.	PloS one (June 2015)	Ift80^{tm1c(KOMP)Wtsi} Ift80^{tm1a(KOMP)Wtsi}	PMC4459993

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MGI Allele	Allele Type	Produced
Ift80^{tm2a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ift80^{tm2e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Ift80^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ift80^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ift80 MGI:1915509

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Legacy Phenotype Associated Images

Human diseases caused by Ift80 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data