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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 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
increased red blood cell distribution width	Ift80^{tm1a(KOMP)Wtsi}	HET	Early adult	4.60×10^-08
abnormal ulna morphology	Ift80^{tm1a(KOMP)Wtsi}	HET	Early adult	1.67×10^-05

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X-ray

XRay Images Whole Body Dorso Ventral

22 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 (780 diseases)

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

Disease	Matching phenotypes	Source
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact...	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	Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1040
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Acropectoral Syndrome	Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T...	OMIM:605967
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Short stature, Microcephaly, Abnormality of the elbow, Abnormal rib morphology...	ORPHA:3268
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor...	ORPHA:2779
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo...	OMIM:615631
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Orofaciodigital Syndrome Xviii	Sandal gap, Short stature, Postaxial polydactyly, Single transverse palmar crease, Preaxial polyd...	OMIM:617927
Santos Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu...	OMIM:613005
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morphology of ulna, Abnormal metacarp...	ORPHA:3104
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foo...	OMIM:617405
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Radioulnar synostosis, Dislocated radial head	OMIM:266255
Acropectoral Syndrome	Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly	ORPHA:85203
Pacman Dysplasia	Epiphyseal stippling, Bowing of the long bones	OMIM:167220
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal ...	ORPHA:294975
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormal morphology of ulna	ORPHA:971
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Fe...	OMIM:615503
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Enlargement of the costoc...	OMIM:609052
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Hypoplasia of the radius, Madelung deformity, Short femora...	OMIM:249700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty...	ORPHA:474
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology, Macrocephaly,...	ORPHA:1506
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening, Short stature, Macrocephaly	ORPHA:1513
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Prenatal Bowing	Bowing of the long bones	OMIM:264050
Coxopodopatellar Syndrome	Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp...	ORPHA:1509
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of the phalanges of...	OMIM:250460
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Syndactyly, Anemia of inadequate production, Anisocytosis, Spl...	OMIM:224120
Jawad Syndrome	Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd...	OMIM:251255
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger, Anemia	OMIM:165660
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal ...	ORPHA:1354
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature, Microcephaly	ORPHA:2435
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypopla...	OMIM:613091
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Feingold Syndrome 2	Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,...	OMIM:614326
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl...	OMIM:605432
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r...	ORPHA:1836
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Short stature, Interphalangeal joint contracture of finger, Microcephaly, Preaxial hand polydacty...	OMIM:606242
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara, Upper limb...	ORPHA:93351
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Ulnar deviation of th...	OMIM:194350
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Biemond Syndrome Type 2	Preaxial polydactyly, Short stature, Delayed puberty	ORPHA:141333
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Microcephaly, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short iliac bones...	OMIM:271530
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Camptodactyly, Neona...	OMIM:619751
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Microcephaly, Abnormal rib morphology, Abnormal epiphysis morphology, Intra...	ORPHA:2643
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Distal Arthrogryposis Type 1	Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol...	ORPHA:1146
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs, Single transverse palmar...	OMIM:617866
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi...	OMIM:142669
Axial Spondylometaphyseal Dysplasia	Thoracic scoliosis, Mild postnatal growth retardation, Proximal femoral metaphyseal irregularity,...	ORPHA:168549
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Postaxial polydactyly, Microcephaly, Preaxial polydactyly, Bilateral talipes equ...	OMIM:618142
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Relative macrocephaly, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydacty...	OMIM:616300
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v...	OMIM:184260
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Short stature, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs...	OMIM:300863
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f...	OMIM:616738
Hypochondroplasia	Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Disproportionate short-lim...	OMIM:146000
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Capitate-hamate fusion, Enlargement of the costochondral...	OMIM:271650
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2233
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho...	ORPHA:750
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Fibrochondrogenesis 2	Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,...	OMIM:614524
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Narrow chest, Brachydactyly	OMIM:613819
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme...	ORPHA:628
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Short stature, Diaphyseal sclerosis, Death in adolescence, Macrocephaly	OMIM:122860
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, Radial bowin...	OMIM:151210
Spondylometaphyseal Dysplasia, Axial	Short stature, Anterior rib cupping, Rhizomelia, Proximal femoral metaphyseal irregularity, Dispr...	OMIM:602271
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Juberg-Hayward Syndrome	Toe syndactyly, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the radius, Abnorm...	ORPHA:2319
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Postnatal growth retardation, Cupped ribs, Metaphyseal widening, Co...	OMIM:608940
Rhizomelic Syndrome, Urbach Type	Short stature, Rhizomelia, Microcephaly, Abnormality of the humerus, Preaxial hand polydactyly, W...	ORPHA:3098
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g...	ORPHA:1802
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Abnormal rib morphology, Long thorax, ...	ORPHA:2635
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement	OMIM:276821
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Postnatal growth retardation, T...	ORPHA:93324
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Arthralgia of the hi...	ORPHA:93307
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Irregul...	OMIM:250420
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Pseudoachondroplasia	Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip...	OMIM:177170
Endosteal Hyperostosis, Worth Type	Abnormal rib morphology, Diaphyseal thickening, Clavicular sclerosis	ORPHA:2790
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Acromicric Dysplasia	Short metacarpal, Severe short stature, Cone-shaped epiphysis, Short foot, Short long bone, Short...	OMIM:102370
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia...	OMIM:187600
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,...	ORPHA:98870
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus...	OMIM:223800
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Missing ribs, Microcephaly, Short thorax, Abnormal rib morphology, Posterio...	ORPHA:1797
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Achondrogenesis Type 1B	Severe short stature, Micromelia, Short thorax, Abnormal rib morphology, Disproportionate short s...	ORPHA:93298
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Wide anterior fontanel, Preaxial polydactyly, Hypop...	OMIM:617925
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Narrow chest, Short ri...	OMIM:618961
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Genu valgum, Pectus ...	OMIM:607131
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe...	ORPHA:3082
Biemond Syndrome Ii	Preaxial hand polydactyly, Short stature	OMIM:210350
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Severe short stature, Anterior rib cupping, Clinodacty...	OMIM:184250
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Short stature, Micromelia, Wide distal femoral metaphysi...	OMIM:613320
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Anisocytosis, Camptodactyly	OMIM:604273
Prader-Willi Syndrome Due To Imprinting Mutation	Short foot, Abnormal ulnar metaphysis morphology, Narrow palm, Small hand	ORPHA:177910
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Achondrogenesis, Type Ii	Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Disproportionate short-tr...	OMIM:200610
Femoral-Facial Syndrome	Short femur, Short stature, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa...	ORPHA:1988
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Grant Syndrome	Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pelvic girdle bone mor...	ORPHA:2097
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypopl...	OMIM:617895
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Macrocephaly, Polydactyly, Microcephaly	OMIM:617119
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Relative macrocephaly, Short stature, Postnatal growth retardation, Upper limb asymmetry, Polydac...	ORPHA:231140
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Short tubular b...	OMIM:184253
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Proximal ...	OMIM:602418
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu...	ORPHA:1972
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger, ...	OMIM:609813
Cat-Eye Syndrome	Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature	ORPHA:195
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Laron Syndrome	Delayed menarche, Short long bone, Severe short stature, Limb undergrowth	OMIM:262500
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizomelia, Dumbbell-sh...	OMIM:228520
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Dysspondyloenchondromatosis	Abnormal ulnar metaphysis morphology, Metaphyseal enchondromatosis, Abnormal fibula morphology, G...	ORPHA:85198
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Short Stature, Dauber-Argente Type	Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation...	OMIM:619489
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome...	ORPHA:239
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Short thorax, ...	OMIM:617102
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Xylt1-Cdg	Relative macrocephaly, Short stature, Coxa valga, Microcephaly, Flared metaphysis, Growth delay, ...	ORPHA:370930
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Fibular hypoplasi...	OMIM:612447
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Trisomy 4P	Short stature, Camptodactyly of finger, Microcephaly, Preaxial hand polydactyly, Radial club hand	ORPHA:1738
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the ph...	OMIM:615630
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Death in infancy, Short stature, Rhizomelia, Metaphyseal chondrodysplasia, Abnormalit...	ORPHA:163966
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phal...	OMIM:615777
X-Linked Intellectual Disability, Siderius Type	Preaxial hand polydactyly, Large hands	ORPHA:85287
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Thoracic hypoplasia, Brachydactyly	ORPHA:221054
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca...	ORPHA:90652
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Joubert Syndrome 10	Growth delay, Postaxial polydactyly, Macrocephaly	OMIM:300804
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Aplasia/Hypoplas...	ORPHA:1307
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Relative macrocephaly, Postnatal growth retardation, Acromicria, Small hand, Short foot, Intraute...	ORPHA:254525
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short stature, Postaxial polydactyly,...	OMIM:614091
Hypophosphatasia	Bowing of the long bones, Short stature, Abnormal rib morphology, Narrow chest, Abnormal metaphys...	ORPHA:436
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Short stature, Central Y-shaped metacarpal, Preaxial polydacty...	ORPHA:2754
Achondrogenesis Type 2	Short stature, Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Sh...	ORPHA:93296
Three M Syndrome 2	Relative macrocephaly, Scapular winging, Severe short stature, Short stature, Short thorax, Pectu...	OMIM:612921
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu...	OMIM:614078
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Lethal Recessive Chondrodysplasia	Micromelia, Short long bone, Narrow chest, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Achondrogenesis Type 1A	Multiple rib fractures, Severe short stature, Micromelia, Short thorax, Macrocephaly, Short foot,...	ORPHA:93299
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Abse...	OMIM:607323
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,...	OMIM:166210
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Anemia of inadequate production, Absent thumb, Unilateral radial aplasia,...	OMIM:614900
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Achondroplasia	Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the legs, Short proximal phal...	ORPHA:15
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect...	OMIM:225500
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Fibrochondrogenesis	Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Wide anterior fontanel,...	ORPHA:2021
Kenny-Caffey Syndrome, Type 1	Long clavicles, Proportionate short stature, Thin clavicles, Small hand, Thin ribs, Short foot, S...	OMIM:244460
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Short stature, Micromelia, Split hand, Abnormal rib morphology, Intrauterine g...	ORPHA:2145
Spondylometaphyseal Dysplasia, Kozlowski Type	Elbow flexion contracture, Irregular, rachitic-like metaphyses, Flared metaphysis, Disproportiona...	OMIM:184252
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short stature, Microcephaly, Pectus excavatum, Abnormal rib morphol...	ORPHA:2522
Lethal Congenital Contracture Syndrome Type 1	Short stature, Abnormality of the elbow, Abnormal rib morphology, Slender long bone, Abnormal hip...	ORPHA:1486
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Bardet-Biedl Syndrome 16	Polydactyly, Short stature	OMIM:615993
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Greenberg Dysplasia	Micromelia, Beaded ribs, Tetraphocomelia, Hypoplasia of the calcaneus, Narrow chest, Neonatal dea...	OMIM:215140
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyly of the 5th finger, R...	OMIM:210720
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular...	OMIM:600002
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Short stature, Coxa valga, Short thorax, Disproportionate short stature, Advance...	OMIM:618363
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia, Microcephaly	OMIM:616910
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short stature, Anterior rib cupping, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiph...	OMIM:300232
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi...	ORPHA:2475
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Short femoral neck...	OMIM:618019
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Rocker botto...	ORPHA:2616
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Thoracic hypoplasia, Hypoplastic...	OMIM:611717
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Short stature, Lateral clavicle hook, Horizontal ribs, ...	OMIM:208500
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Metaphyseal widenin...	OMIM:224400
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Short stature	OMIM:300484
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Abnorm...	ORPHA:1120
Three M Syndrome 1	Scapular winging, Short stature, Pectus excavatum, Postnatal growth retardation, Short thorax, Hi...	OMIM:273750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ...	ORPHA:1788
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Short stature, Tapered finger, Hip dislocation, Thin ribs, Delayed ossifi...	OMIM:618395
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti...	OMIM:119800
Renpenning Syndrome	Severe short stature, Microcephaly, Pectus excavatum, Abnormal thumb morphology, Abnormal rib mor...	ORPHA:3242
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Irregular carpal bones, Split hand...	OMIM:252600
Melnick-Needles Syndrome	Bowing of the long bones, Short stature, Coxa valga, Short thorax, Hip dislocation, Abnormal rib ...	ORPHA:2484
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum...	OMIM:227270
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Short long bone, Short thorax, Talipes equinovarus	OMIM:618845
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Sever...	ORPHA:85167
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus...	ORPHA:64755
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormal rib morphology, Abnormal fibula morphology, Tib...	ORPHA:3035
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux	OMIM:235750
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Short stature, Camptodactyly of finger, Microc...	ORPHA:2311
Mohr Syndrome	Syndactyly, Short stature, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:252100
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Short stature, Abnormal metatarsal morphology, Pectus excavatum, Short thorax, ...	ORPHA:163654
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys...	OMIM:600081
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Pectus carinatum, Disproportionate short-limb short stature, Short...	OMIM:259440
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Mosaic Trisomy 14	Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Bilateral single transverse palma...	ORPHA:1703
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Pectus excavatum, Hand polydactyly, Foot po...	OMIM:258860
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Orofaciodigital Syndrome Xvii	Short stature, Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Cent...	OMIM:617926
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Short long b...	OMIM:620269
Cleidocranial Dysplasia	Hypoplastic scapulae, Short stature, Down-sloping shoulders, Tapered finger, Abnormal thumb morph...	ORPHA:1452
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,...	OMIM:617604
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Coxa valga, Short thorax, Abnormal rib morphology, Genu ...	ORPHA:582
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Abnormalit...	ORPHA:2378
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ...	ORPHA:1865
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Severe short stature, Abnormality of the epiphysis ...	ORPHA:93316
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Sprengel anomaly, Cervical ribs, Talipes equinovarus	OMIM:601389
Craniometadiaphyseal Dysplasia	Broad long bones, Short stature, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metap...	OMIM:269300
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,...	OMIM:211350
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Metaphyseal widening, Abnormal thorax morphology, Triangular shaped...	ORPHA:73230
Cooper-Jabs Syndrome	Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m...	ORPHA:1488
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Macrocephaly, Sprengel anomaly, Brachydactyly	ORPHA:2180
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Narrow chest	OMIM:616546
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Spina bifida occulta, Shoulder muscle hypoplasia	OMIM:184400
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Coxa valga, Short tubular bones of the hand, Wide anterior fontanel, Abnormal diaphysis morpholog...	ORPHA:85184
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Multiple rib fractures, Bowing of the long bones, Short stature, Rhizomelia, B...	OMIM:616229
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Abno...	ORPHA:457395
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Microcephaly, Short long bone, Dispro...	OMIM:224410
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Ulnar deviat...	ORPHA:2876
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific...	OMIM:271665
Osteogenesis Imperfecta, Type X	Relative macrocephaly, Multiple rib fractures, Bowing of the long bones, Short femur, Thoracic sc...	OMIM:613848
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
20P13 Microdeletion Syndrome	Finger syndactyly, Microcephaly, Wide anterior fontanel, Polydactyly, Macrocephaly, Clinodactyly,...	ORPHA:313781
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia, Microcephaly, Abnormal rib morphology, Disproportionate short-limb short stature, Int...	ORPHA:2772
Braddock Syndrome	Short stature, Missing ribs, Pectus excavatum, Preaxial hand polydactyly, Intrauterine growth ret...	ORPHA:52047
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Short stature, Microcephaly, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphol...	ORPHA:3068
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ...	ORPHA:2502
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Hypoplastic iliac wing, Postnatal growth retardation, Disproportionate short...	OMIM:313400
Gracile Bone Dysplasia	Death in infancy, Short stature, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly	OMIM:602361
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Orthostatic Hypotension 1	Hypomagnesemia, Brachydactyly, Increased blood urea nitrogen	OMIM:223360
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi...	ORPHA:93317
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Squared iliac bones, Hypoplastic pubic bone, ...	OMIM:258480
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:429
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Thin ribs, Short stature, Brachydactyly	OMIM:618265
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology, Microcephaly	ORPHA:276422
3Mc Syndrome 3	Short stature, Preaxial polydactyly, Growth delay, Radioulnar synostosis, Clinodactyly	OMIM:248340
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, Microcephaly, Genu valgum, ...	OMIM:619721
Nephronophthisis 15	Polydactyly	OMIM:614845
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga...	ORPHA:1328
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Short stature, Rhizomelia, Broad femoral neck, Single transverse palmar creas...	OMIM:611209
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly, Short stature	OMIM:245800
Silver-Russell Syndrome Due To A Point Mutation	Relative macrocephaly, Syndactyly, Postnatal growth retardation, Short 5th finger, Polydactyly, E...	ORPHA:397590
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Beaded ribs, M...	OMIM:616897
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Foot polydactyly, Macrocephaly	ORPHA:210548
Holzgreve Syndrome	Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology	ORPHA:2167
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes equinovarus, Camptodacty...	OMIM:614815
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca...	ORPHA:968
Meckel Syndrome, Type 8	Talipes equinovarus, Polydactyly, Narrow chest, Microcephaly	OMIM:613885
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Progressive macrocephaly	OMIM:602501
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Microcephaly, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, S...	ORPHA:2519
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth	OMIM:263630
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Micromelia, Abnormal thorax morphology, Abnormal rib ...	ORPHA:1318
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Postnatal growth retardation, Capita...	OMIM:206920
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o...	OMIM:201000
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Abnormal rib morphology, Intrauteri...	ORPHA:2050
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology	ORPHA:2345
Pelger-Huet Anomaly	Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Mild short stature, Shor...	OMIM:169400
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P...	OMIM:192350
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Meier-Gorlin Syndrome 1	Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger syndactyly, Short p...	OMIM:224690
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Lambotte Syndrome	Preaxial foot polydactyly, Microcephaly, Intrauterine growth retardation	OMIM:245552
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology	ORPHA:1508
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Bowing of the legs, Enlargement of the costochondral junction, Delayed epiphys...	OMIM:241530
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb...	ORPHA:2307
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Missing ribs, Abnormal rib morphology, Clinodactyly of the 5th finger	ORPHA:2759
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnormal pelvic gir...	OMIM:256050
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Death in infancy, Postnatal growth retardation, Wi...	OMIM:619135
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Bent Bone Dysplasia Syndrome 2	Relative macrocephaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, ...	OMIM:620076
Pyknoachondrogenesis	Micromelia, Short iliac bones, Horizontal ribs, Short thorax, Abnormal iliac wing morphology, Enl...	ORPHA:3003
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Microcephaly	OMIM:243605
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Wide anterior fontanel, Thin ribs, Tibial bowing, Slender long bone, Disprop...	OMIM:259420
Hydrolethalus Syndrome 2	Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly	OMIM:614120
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Broad palm, Macrocephaly, Shor...	OMIM:269860
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, Enlargement of the costocho...	OMIM:264700
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Microcephaly, Pectus excavatum, Hip dysplasia, Deviation of ...	OMIM:616362
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Short stature, Tapered finger, Microcephaly, Preaxial hand polydactyly...	OMIM:620072
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sp...	ORPHA:958
Endosteal Hyperostosis, Autosomal Dominant	Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end...	OMIM:144750
Spondyloepimetaphyseal Dysplasia, Shohat Type	Severe short stature, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, M...	ORPHA:93352
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o...	ORPHA:2928
Chromosome 3Pter-P25 Deletion Syndrome	Short stature, Overlapping toe, Postaxial polydactyly, Tapered finger, Postnatal growth retardati...	OMIM:613792
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca...	OMIM:600920
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Femoral bowing, Short long bone, Broad ribs, Narrow chest, Talipes equinovaru...	OMIM:617022
Septooptic Dysplasia	Short stature, Polydactyly, Short finger	OMIM:182230
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Cole-Carpenter Syndrome 2	Short stature, Pectus excavatum, Postnatal growth retardation, Thin ribs, Macrocephaly, Narrow il...	OMIM:616294
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flaring of rib cage, Larg...	OMIM:271640
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Short stature, Small abnormally formed scapulae, Hip ...	ORPHA:140
Dysosteosclerosis	Clavicular sclerosis, Sclerotic scapulae, Disproportionate short stature, Flared metaphysis, Abno...	OMIM:224300
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,...	ORPHA:261344
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Short femur, Limited elbow movement, Disproportionate short-trunk short stat...	ORPHA:94068
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Bowing of the legs, Beaded ribs, Enlargem...	ORPHA:89936
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl...	ORPHA:2256
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Severe short stature, Metaphyseal chondrodysplasia, Cl...	OMIM:156400
Cardioacrofacial Dysplasia 1	Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum	OMIM:619142
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Postnatal growth re...	ORPHA:254528
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa...	ORPHA:175
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Trisomy 13	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Ectr...	ORPHA:3378
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pectus excavatum, Hyp...	OMIM:311900
Mucopolysaccharidosis, Type Iva	Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi...	OMIM:253000
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Pectus excavatum, Preaxial p...	OMIM:614976
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Spondylocostal Dysostosis 1, Autosomal Recessive	Death in infancy, Severe short stature, Short stature, Rib fusion, Disproportionate short-trunk s...	OMIM:277300
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Short stature, Large tarsal bones, Flared metaphysis, Prominent interphalan...	OMIM:215150
Thoracomelic Dysplasia	Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphy...	ORPHA:1803
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b...	ORPHA:83
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Microcephaly, Postnatal growth retardation, Short long bone, Short palm, Intrau...	OMIM:619184
Atelosteogenesis, Type I	Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem...	OMIM:108720
Joubert Syndrome 23	Polydactyly	OMIM:616490
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of fin...	OMIM:601559
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Abnormal circulating calcium concentration, Tra...	OMIM:307800
Mucopolysaccharidosis, Type Ivb	Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi...	OMIM:253010
Shwachman-Diamond Syndrome 1	Short stature, Anterior rib cupping, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphy...	OMIM:260400
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Narrow chest, Macrocephaly, Br...	ORPHA:1517
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Postnatal grow...	ORPHA:289157
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Macrocephaly, Abnormal...	OMIM:109400
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Narrow greater sciatic notch, Short phalanx of finger, Broad metacarpals,...	ORPHA:508533
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Hypoplastic pubic bone, Flared metaphysis, Short long bone, Small epiphyses, Delayed ossification...	ORPHA:93346
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Meckel Syndrome, Type 2	Intrauterine growth retardation, Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly	OMIM:615761
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Ulnar bowing, Irregular femoral epiphysis, Wide tuft...	OMIM:154780
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Elbow flexion contract...	ORPHA:1145
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Disproportionate short-trunk short stature, Genu valgum, Broad ribs, Abnorm...	ORPHA:583
Joubert Syndrome 16	Polydactyly	OMIM:614465
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Microcephaly	ORPHA:544254
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,...	OMIM:114290
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Short stature	ORPHA:2578
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Abnormal acetabulum morphology, Long clavicles, Short stature, Postaxial polydactyly, Rhizomelic ...	ORPHA:397715
Spondylocostal Dysostosis 5	Severe short stature, Missing ribs, Disproportionate short-trunk short stature, Pectus carinatum,...	OMIM:122600
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Shwachman-Diamond Syndrome 2	Death in infancy, Short stature, Anterior rib cupping, Microcephaly, Metaphyseal widening, Death ...	OMIM:617941
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Long palm, Tape...	ORPHA:2215
Mucopolysaccharidosis, Type X	Spatulate ribs, Broad clavicles, Disproportionate short-trunk short stature, Genu valgum, Hip dys...	OMIM:619698
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Absent pubertal growth spurt, Flaring of lower rib cage, Metaphyseal widen...	OMIM:250250
Frontometaphyseal Dysplasia 1	Carpal synostosis, Bowing of the long bones, Scapular winging, Arachnodactyly, Interphalangeal jo...	OMIM:305620
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Hip dysplasia, Polydactyly	ORPHA:531151
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc...	OMIM:276820
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Joubert Syndrome 27	Polydactyly	OMIM:617120
Rothmund-Thomson Syndrome Type 2	Short metacarpal, Aplastic anemia, Aplasia/hypoplasia involving bones of the upper limbs, Metaphy...	ORPHA:221016
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Aplastic anemia, Metaphyseal sclerosis, Patellar aplasia, Abnormality of the ra...	ORPHA:221008
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Abnormality of the humeroulnar joint, Short stature	ORPHA:2234
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Missing ribs, Split hand, Hypoplasi...	OMIM:200980
Johnson Neuroectodermal Syndrome	Preaxial hand polydactyly, Severe short stature, Hand polydactyly, Microcephaly	ORPHA:2316
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Short tibia...	ORPHA:96334
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Microcephaly	ORPHA:280195
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone...	OMIM:617088
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Spondylocostal Dysostosis 2, Autosomal Recessive	Rib fusion, Disproportionate short-trunk short stature	OMIM:608681
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Robinow Syndrome, Autosomal Recessive 1	Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Sho...	OMIM:268310
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnorm...	ORPHA:95699
Radio-Renal Syndrome	Severe short stature, Micromelia, Hypoplasia of the radius, Abnormal rib morphology, Abnormality ...	ORPHA:3015
Kinsship Syndrome	Death in infancy, Short stature, Single transverse palmar crease, Coxa valga, Microcephaly, Hip d...	OMIM:619297
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Microcephaly, Wide anterior fontanel, Metaphyseal widening, Short lo...	OMIM:263210
Mandibulofacial Dysostosis, Guion-Almeida Type	Short stature, Proximal placement of thumb, Microcephaly, Preaxial hand polydactyly, Slender fing...	OMIM:610536
Cranioectodermal Dysplasia 3	Sandal gap, Short stature, Postaxial polydactyly, Rhizomelia, 2-4 toe syndactyly, 2-3 toe syndact...	OMIM:614099
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Short stature, Camptodactyly of finger, Abnormali...	ORPHA:93473
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Death in infancy, Short stature, Protrusio acetabuli...	OMIM:610682
Orofaciodigital Syndrome Xiv	Broad hallux, Microcephaly, Postaxial hand polydactyly, Preaxial polydactyly, Aplasia of the epig...	OMIM:615948
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno...	OMIM:269500
Maternal Uniparental Disomy Of Chromosome 2	Miscarriage, Postnatal growth retardation, Preaxial hand polydactyly, Clinodactyly of the 5th fin...	ORPHA:96179
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Undulate ribs, Femoral bowing, Thin ribs, Short long bone, Narrow...	OMIM:618188
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Cerebrocostomandibular Syndrome	Rib gap, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal stippl...	OMIM:117650
Mandibulofacial Dysostosis-Microcephaly Syndrome	Preaxial hand polydactyly, Short stature, Secondary microcephaly	ORPHA:79113
Prune Belly Syndrome	Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Talipes equinovarus	ORPHA:2970
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Oculoauriculovertebral Spectrum With Radial Defects	Preaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Short stature, Triphalangeal thumb	ORPHA:2549
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Macrocephaly, Complete duplication of thumb phalanx, Short phalan...	ORPHA:59315
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Abnormal thorax morphology, Epip...	OMIM:302960
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Microcephaly, Metatarsus adductus, Lateral clavicle hook, Metaphyseal widening, P...	OMIM:182212
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow...	OMIM:207410
Weill-Marchesani Syndrome 1	Short stature, Proportionate short stature, Broad skull, Broad palm, Broad phalanges of the hand,...	OMIM:277600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Broad hallux, Overlapping toe, Short stature,...	ORPHA:508498
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Short stature, Missing ribs	ORPHA:1834
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:614175
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Short stature, Metaphyseal widening, Split hand, Disproportionate short-tru...	OMIM:253200
Kbg Syndrome	Syndactyly, Short stature, Single transverse palmar crease, Microcephaly, Rib fusion, Cutaneous s...	OMIM:148050
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Y-shaped metacarpals, Toe syndactyly, Mesoaxial hand poly...	OMIM:146510
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology, Short stature	OMIM:601076
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Finger syndactyly, Hypoplasia of the ulna, Toe syndac...	ORPHA:84
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Mild short stature, Microcephaly, Short stature, Thin ribs	OMIM:614833
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Postaxial polydactyly, Microcephaly, Growth delay, Hip dysplasia, Intrauterine ...	OMIM:614576
Rhyns Syndrome	Radial bowing, Short stature, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Patellar aplasia, Abnormal rib morphology, Narrow pelvis ...	ORPHA:96061
Alagille Syndrome	Hypoplasia of the ulna, Abnormal rib morphology, Delayed puberty, Clinodactyly of the 5th finger,...	ORPHA:52
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Short stature, Aplasi...	OMIM:151050
Schwartz-Jampel Syndrome	Micromelia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Short statu...	ORPHA:800
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Broad ulna, Aplastic anemia, Aplasia/Hypoplasia of the patella, Short thu...	ORPHA:2909
Cockayne Syndrome Type 1	Increased blood urea nitrogen	ORPHA:90321
Oculodentodigital Dysplasia	Finger syndactyly, Abnormal clavicle morphology, Toe syndactyly, Camptodactyly of finger, Short h...	ORPHA:2710
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist...	OMIM:123000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Thoracic scoliosis, Postaxial polydactyly, Macrocephaly	OMIM:603387
Osteopetrosis, Autosomal Recessive 7	Multiple rib fractures, Death in infancy, Femur fracture, Growth delay, Increased head circumfere...	OMIM:612301
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Spondylocostal Dysostosis 4, Autosomal Recessive	Short stature, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax, Spin...	OMIM:613686
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Narrow chest, Short ...	OMIM:304120
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo...	ORPHA:2879
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Short stature, Tapered finger, Delayed epiphyseal ossification, Short...	OMIM:616007
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Thin ribs, Th...	ORPHA:2463
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys...	OMIM:101200
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Short finger, Thin ribs	OMIM:312150
Gm1 Gangliosidosis Type 1	Spatulate ribs, Pectus carinatum, Flared iliac wing, Short long bone, Flattened femoral head, Ace...	ORPHA:79255
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha...	OMIM:200990
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Bowing of the long bones, Femoral bowing	OMIM:617952
Ear-Patella-Short Stature Syndrome	Severe short stature, Camptodactyly of finger, Aplastic clavicle, Microcephaly, Elbow dislocation...	ORPHA:2554
Myhre Syndrome	Brachydactyly, Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Shor...	ORPHA:2588
Autosomal Recessive Robinow Syndrome	Pectus carinatum, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Syn...	ORPHA:1507
Vacterl/Vater Association	Finger syndactyly, Preaxial hand polydactyly, Abnormal rib morphology, Aplasia/Hypoplasia of the ...	ORPHA:887
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Postnatal growth retardation, Humeroradial synostosis, Hypoplasi...	ORPHA:3404
Kagami-Ogata Syndrome	Long clavicles, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax, Limb undergrowth	OMIM:608149
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Thin ri...	OMIM:601812
Trisomy 18	Short stature, Camptodactyly of finger, Microcephaly, Postaxial hand polydactyly, Abnormal rib mo...	ORPHA:3380
Geleophysic Dysplasia 1	Short palm, Short stature, Camptodactyly of finger, Coxa valga, Pectus excavatum, Short foot, Sho...	OMIM:231050
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Short stature, Postaxial polydactyly, Single transverse palmar cr...	ORPHA:221120
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long b...	ORPHA:488434
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones	OMIM:607634
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Aspergillosis	Abnormal long bone morphology, Abnormal rib morphology	ORPHA:1163
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Autosomal Dominant Centronuclear Myopathy	Macrocephaly at birth, Proximal muscle weakness in upper limbs, Miscarriage, Thin ribs	ORPHA:169189
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ...	OMIM:143095
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Proportionate short stature, Postnatal growth retardation, Abnorm...	ORPHA:79345
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Short stature, Avascular necrosis of the capital femoral epiphysis, Disproport...	ORPHA:93315
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Short finger, Thin ribs	OMIM:253290
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Adducted thumb	ORPHA:171430
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short stature, Short tibia, Adactyly, Broad first metatarsal, Po...	ORPHA:2751
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Genu valgum, Deep palmar crease, Palmoplantar keratoderma, Cubitus v...	ORPHA:1340
Osteogenesis Imperfecta	Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b...	ORPHA:666
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia...	ORPHA:2769
Weill-Marchesani Syndrome 2	Short metacarpal, Short stature, Proportionate short stature, Broad skull, Short metatarsal, Broa...	OMIM:608328
Myhre Syndrome	Overlapping toe, Short stature, Microcephaly, Short toe, 2-3 toe syndactyly, Macrocephaly, Cone-s...	OMIM:139210
Mucolipidosis Ii Alpha/Beta	Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Split hand, Flat acetabul...	OMIM:252500
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Overlapping toe, Short stature, Microcephaly, Pectus exc...	OMIM:213980
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphalangeal hal...	OMIM:601707
Osteogenesis Imperfecta, Type Xv	Short stature, Thin ribs	OMIM:615220
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology	ORPHA:1300
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Microcephaly, Pectus excavatum, Rib fu...	ORPHA:2990
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Short stature, Pectus excavatum, Thoracolumbar kyphosis, Osteopathia striata, Fib...	OMIM:300373
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Abnormal rib morphology, Missing ribs	ORPHA:3301
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem...	OMIM:269150
Joubert Syndrome 37	Short stature, Postaxial polydactyly	OMIM:619185
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Short stature, Broad ischia, Macrocephaly, Diaphyseal dysplasia, Short pal...	OMIM:619727
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Pseudoepiphyses of the metacarpals, Short stature, Short hallux, ...	OMIM:194190
Cerebrocostomandibular Syndrome	Death in infancy, Short stature, Microcephaly, Posterior rib gap, Bell-shaped thorax, Clinodactyl...	ORPHA:1393
Cog1-Cdg	Rhizomelia, Coxa valga, Postnatal growth retardation, Rib fusion, Posterior rib gap, Flat acetabu...	ORPHA:263508
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Short stature, Bowing of the legs, Aplasia/Hypoplasia of the patella, Prea...	OMIM:617063
Faciocardiomelic Syndrome	Microcephaly, Slender long bone, Polydactyly, Narrow chest, Hypoplastic pelvis	OMIM:612731
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate fusion, Pectus...	OMIM:304150
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Short stature, Elbow flexion contractur...	OMIM:252940
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Postaxial polydactyly	OMIM:615824
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Long clavicles, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Short sta...	OMIM:265000
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Pe...	ORPHA:2886
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Abnormal rib morphology, Growth delay, Narrow chest, Abnormal epiphysis...	ORPHA:667
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Narrow chest, Disproportionate sho...	OMIM:619479
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Proximal 16P11.2 Microdeletion Syndrome	Hand polydactyly, Rib fusion, Macrocephaly	ORPHA:261197
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial foot polydactyly, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydac...	ORPHA:404440
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Short stature, Decreased fibular diameter, Pectus excavatum, Postnatal growth retarda...	OMIM:619127
Monosomy 9Q22.3	Pectus excavatum, Palmar pits, Abnormal rib morphology, Polydactyly, Macrocephaly	ORPHA:77301
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Long fingers, Cessati...	OMIM:617527
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Hypoplastic pubic ramus, Arachnodactyly, Short hallux, Microcepha...	ORPHA:280
Cerebrofaciothoracic Dysplasia	Short stature, Rib fusion, Narrow chest, Bifid ribs, Macrocephaly, Sprengel anomaly	ORPHA:1394
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Microcephaly, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Frank-Ter Haar Syndrome	Short palm, Bowing of the long bones, Metatarsus adductus, Pectus excavatum, Wide anterior fontan...	OMIM:249420
Osteopetrosis, Autosomal Dominant 2	Fractures of the long bones, Abnormal pelvic girdle bone morphology	OMIM:166600
Cranioectodermal Dysplasia 2	Syndactyly, Short stature, Rhizomelia, Pectus excavatum, Postaxial hand polydactyly, Macrocephaly...	OMIM:613610
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Camptodactyly of finger, Rocker bottom foot, Thin r...	OMIM:208150
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Tapered finger, Hip dislocation, Genu valgum, Hip dysplasia, Talipes equinovarus, Macrocephaly, B...	OMIM:301066
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Death in infancy, Thin ribs	OMIM:300219
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Short stature, Rhizomelia, Proximal placement of thumb, Microcephaly, Postaxia...	ORPHA:818
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Death in infancy, Congenital hip dislocation, Toe syndactyly, Camptodactyly of...	ORPHA:373
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Bell-shaped thorax, Growth delay, Horizontal ribs	OMIM:614857
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Rib fusion, Macrocephaly, Clinodactyly of the 5th finger	ORPHA:544488
Hallermann-Streiff Syndrome	Proportionate short stature, Abnormality of the hand, Pectus excavatum, Microcephaly, Metaphyseal...	OMIM:234100
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar ...	ORPHA:2907
Miller-Dieker Lissencephaly Syndrome	Single transverse palmar crease, Microcephaly, Deep palmar crease, Polydactyly, Camptodactyly, Cl...	OMIM:247200
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial hand polydact...	ORPHA:93271
Aicardi Syndrome	Missing ribs, Microcephaly, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs...	ORPHA:50
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Short stature, Microcephaly, Pectus excavatum, Pol...	ORPHA:464306
Kagami-Ogata Syndrome	Coxa valga, Postnatal growth retardation, Bell-shaped thorax, Coat hanger sign of ribs, Thoracic ...	ORPHA:254519
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda...	ORPHA:2750
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Short stature, Intrauterine growth retardation	ORPHA:1297
Adnp Syndrome	Broad hallux, Sandal gap, Short stature, Single transverse palmar crease, Abnormal toe morphology...	ORPHA:404448
Congenital Sialidosis Type 2	Polydactyly, Macrocephaly	ORPHA:93400
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Abnormal shoulder morphology, Abnormal pelvic girdle bone mor...	ORPHA:1422
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo...	ORPHA:261318
Legius Syndrome	Short stature, Diaphyseal dysplasia, Abnormal sternum morphology, Polydactyly, Macrocephaly, Clin...	ORPHA:137605
Fanconi Anemia, Complementation Group D2	Short stature, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial dupli...	OMIM:227646
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Short stature, Rhizomelia, Pect...	OMIM:180700
Orofaciodigital Syndrome V	Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polydactyly, Postaxial foot polyd...	OMIM:174300
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Proximal placement of thumb, Elbow dislo...	ORPHA:199
Klippel-Feil Syndrome 1, Autosomal Dominant	Sprengel anomaly, Abnormal rib morphology	OMIM:118100
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hi...	OMIM:300968
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Microcephaly, Preax...	ORPHA:2753
Isolated Epispadias	Abnormal pelvic girdle bone morphology	ORPHA:93928
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia...	OMIM:619879
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Prominen...	OMIM:180849
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Aicardi Syndrome	Proximal placement of thumb, Missing ribs, Postnatal growth retardation, Microcephaly, Rib fusion...	OMIM:304050
Lethal Congenital Contracture Syndrome 5	Death in infancy, Thin ribs	OMIM:615368
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Gm1-Gangliosidosis, Type I	Intrauterine growth retardation, Severe short stature, Thickened ribs, Death in infancy	OMIM:230500
Nestor-Guillermo Progeria Syndrome	Short stature, Limited elbow movement, Thin ribs, Growth delay, Rib osteolysis, Progressive clavi...	OMIM:614008
Joubert Syndrome 14	Growth delay, Postaxial polydactyly	OMIM:614424
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Radial...	OMIM:218600
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Single transverse palmar crease, Short thumb, Th...	OMIM:229850
Monosomy 9P	Proximal placement of thumb, Microcephaly, Abnormality of the tarsal bones, Postaxial hand polyda...	ORPHA:261112
Culler-Jones Syndrome	Short stature, Postaxial polydactyly	OMIM:615849
Mend Syndrome	Overlapping toe, Broad hallux, Short stature, Long fingers, 2-3 toe syndactyly, Polydactyly, Over...	OMIM:300960
Robinow Syndrome	Syndactyly, Short stature, Bifid distal phalanx of the thumb, Missing ribs, Rib fusion, Mesomelic...	ORPHA:97360
Choanal Atresia	Polydactyly	ORPHA:137914
Orofaciodigital Syndrome I	Syndactyly, Short stature, Microcephaly, Short 2nd toe, Polydactyly, Radial deviation of finger, ...	OMIM:311200
Alpha-Mannosidosis, Infantile Form	Thickened ribs, Pectus excavatum, Genu valgum, Pectus carinatum, Cortical thickening of long bone...	ORPHA:309282
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly	ORPHA:314655
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs	ORPHA:456328
Pseudo-Torch Syndrome 2	Microcephaly, Thin ribs	OMIM:617397
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Preaxial hand polydactyly, Finger syndactyly, Broad hallux phalanx, Broad thumb	ORPHA:2211
Helsmoortel-Van Der Aa Syndrome	Broad hallux, Sandal gap, Short stature, Tapered finger, Pectus excavatum, Small hand, Genu valgu...	OMIM:615873
Cerebrooculonasal Syndrome	Postnatal growth retardation, Postaxial hand polydactyly, Postaxial polydactyly, Macrocephaly	OMIM:605627
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Preaxial hand polydactyly, Partial duplicati...	ORPHA:857
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Microcephaly, Pr...	OMIM:107480
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Pallister-Hall Syndrome	Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Short stature, ...	ORPHA:672
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m...	ORPHA:581
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Microcephaly, Growth delay, Polydactyly	ORPHA:17
Microphthalmia, Syndromic 3	Short stature, Missing ribs, Postnatal growth retardation, Microcephaly, Rib fusion, Supernumerar...	OMIM:206900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Microcephaly, P...	ORPHA:83617
Rabson-Mendenhall Syndrome	Severe postnatal growth retardation, Polydactyly, Short stature, Intrauterine growth retardation	ORPHA:769
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Upper li...	OMIM:236680
Pagod Syndrome	Abnormal clavicle morphology, Death in infancy, Short stature, Microcephaly, Abnormal rib morphology	ORPHA:991
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Clinodactyly of the 5th finger	ORPHA:457284
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar keratoderma, Sh...	ORPHA:2908
Khan-Khan-Katsanis Syndrome	Short stature, Postaxial polydactyly, Microcephaly, Intrauterine growth retardation, Clinodactyly	OMIM:618460
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Short stature, Tapered finger, Abnormal toe morphology, Pectus excavatum, Microcep...	ORPHA:268261
Mucopolysaccharidosis, Type Iiib	Thickened ribs	OMIM:252920
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Microcephal...	OMIM:249000
Charge Syndrome	Short stature, Microcephaly, Postnatal growth retardation, Abnormal tibia morphology, Abnormal ri...	ORPHA:138
Mucopolysaccharidosis, Type Iiia	Thickened ribs	OMIM:252900
Zttk Syndrome	Relative macrocephaly, Short stature, Rib fusion, Small hand, Short foot, Growth delay, Cervical ...	OMIM:617140
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Pectus excavatum, Hip dysplasia, Deep palmar ...	OMIM:616580
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus carinatum, Narrow greater sciatic notch, Short palm, Short greater sciatic notch, Flared i...	OMIM:312870
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop...	ORPHA:1112
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Meckel Syndrome	Bowing of the long bones, Microcephaly, Preaxial hand polydactyly, Postaxial hand polydactyly, Po...	ORPHA:564
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Neurocardiofaciodigital Syndrome	Syndactyly, Polydactyly, Short stature, Microcephaly	OMIM:619869
Cardiospondylocarpofacial Syndrome	Short stature, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses,...	OMIM:157800
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Short stature, Abnormal rib morphology, Hip dislocation, Genu valgum, Abnormal ...	ORPHA:534
Coccidioidomycosis	Broad skull, Abnormal long bone morphology, Abnormal metacarpal morphology, Broad ribs, Broad met...	ORPHA:228123
Mucopolysaccharidosis, Type Iiic	Thickened ribs	OMIM:252930
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Short stature, Hypoplastic ilia, Long fingers, Thin ribs, S...	OMIM:264090
Mullegama-Klein-Martinez Syndrome	Clinodactyly of the 5th finger, Polydactyly, Short stature, Microcephaly	OMIM:301022
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Thin ribs, Talipes equinovarus, ...	OMIM:225400
1P36 Deletion Syndrome	11 pairs of ribs, Short stature, Camptodactyly of finger, Microcephaly, Rib fusion, Short foot, H...	ORPHA:1606
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Broad ribs, Flaring of rib cage	OMIM:612852
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Short stature, Camptodactyly of finger, Growth delay, Hip dysplasia, Macrocephaly...	ORPHA:217085
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Short stature, Avascular necrosis of the capit...	ORPHA:353277
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Short stature, Camptodactyly of finger, Growth delay, Hip dysplasia, Macrocephaly...	ORPHA:217093
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Overlapping toe, Wide anterior fontanel, Abnormal thorax morphology...	ORPHA:798
Degcags Syndrome	Syndactyly, Toe syndactyly, Microcephaly, Preaxial hand polydactyly, Short thumb, Genu valgum, Po...	OMIM:619488
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Microcephaly, Ab...	OMIM:214800
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Pectus excavatum, Pectus ...	OMIM:610168
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Rib fusion, Short ribs, Missing ribs, Thin ribs	OMIM:271520
Aspartylglucosaminuria	Splenomegaly, Abnormal morphology of ulna	ORPHA:93
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Microcephaly, Metatarsus adductus, Wide anterior fonta...	OMIM:607872
Goodpasture Syndrome	Increased blood urea nitrogen	OMIM:233450
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Microcephaly, Growth delay, Hip dysplasia, Talipes equinovarus	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Microcephaly, Growth delay, Hip dysplasia, Talipes equinovarus	ORPHA:352665
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Pontine Tegmental Cap Dysplasia	Rib fusion	OMIM:614688
Alagille Syndrome 1	Hypoplasia of the ulna, Abnormal rib morphology, Short distal phalanx of finger	OMIM:118450
Okamoto Syndrome	Severe postnatal growth retardation, Hip dysplasia, Polydactyly, Microcephaly	ORPHA:2729
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Congenital hip dislocation, Overlapping toe, Short stature, Postaxial polydactyly,...	ORPHA:480880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Relative macrocephaly, Arachnodactyly, Proportionate short stature, Absent thumb, Rib fusion, Sle...	ORPHA:500150
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Humeroradial synostosis, Fem...	OMIM:201750
Restrictive Dermopathy	Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Thin clavi...	ORPHA:1662
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Microcephaly, Postnatal growth reta...	OMIM:113620
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent ...	OMIM:268300
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Growth delay, Polydactyly, Delayed puberty, Abnormal digit morphology	ORPHA:95494
Osteopetrosis With Renal Tubular Acidosis	Pectus excavatum, Prominent floating ribs, Short stature	ORPHA:2785
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Broad first metatarsal, Polydactyly, Neonatal d...	OMIM:619534

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

Order Mouse and ES Cells

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

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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Legacy Phenotype Associated Images

Human diseases caused by Ift80 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data