Gene Summary

Name:
intraflagellar transport 80
Synonyms:
Wdr56,  4921524P20Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Ift80tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal radius morphology Ift80tm1a(KOMP)Wtsi HET   Early adult 2.87×10-05
increased blood urea nitrogen level Ift80tm1a(KOMP)Wtsi HOM Early adult 3.25×10-05
abnormal ulna morphology Ift80tm1a(KOMP)Wtsi HET   Early adult 1.67×10-05
abnormal pelvic girdle bone morphology Ift80tm1a(KOMP)Wtsi HOM Early adult 2.38×10-05
increased red blood cell distribution width Ift80tm1a(KOMP)Wtsi HET Early adult 4.60×10-08

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Forepaw

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

22 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

Legacy Phenotype Associated Images

View all 127 images

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.

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

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

Disease Similarity of
phenotypes
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