Gene Summary

Name:
intraflagellar transport 80
Synonyms:
4921524P20Rik,  Wdr56

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 ulna morphology Ift80tm1a(KOMP)Wtsi HET   Early adult 1.67×10-05
abnormal radius morphology Ift80tm1a(KOMP)Wtsi HET   Early adult 2.87×10-05
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
increased blood urea nitrogen level Ift80tm1a(KOMP)Wtsi HOM   Early adult 3.25×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

24 Images

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

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

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
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited elbow extension, Dislocated radial head, Radioulnar synostosis OMIM:179300
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Bell-shaped thorax, Short long bone, Coxa v... OMIM:611702
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Polydactyly, Short stature, Brachydactyly OMIM:617405
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Syndac... OMIM:224120
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, Short statu... ORPHA:3268
Acropectoral Syndrome
Pectus carinatum, Pectus excavatum, Preaxial polydactyly, Partial duplication of thumb phalanx, T... OMIM:605967
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Syndactyly, Anemia of inadequate production... OMIM:615631
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Single ... OMIM:617927
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Acropectoral Syndrome
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly ORPHA:85203
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Radioulnar synostosis, Finger syndactyly, Amegakaryocytic thrombocytopenia, Clinod... ORPHA:71289
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Upper limb phocomelia, Polydactyly, Abnormal thorax morphology, Syndactyly, Abnormal ... ORPHA:294975
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus carinatum, Osteo... OMIM:609052
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Sho... OMIM:615503
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Hypochondroplasia
Limited elbow extension, Childhood onset short-limb short stature, Short long bone, Flared metaph... OMIM:146000
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Postaxial hand polydactyly, Toe syndactyly, Narrow ch... ORPHA:474
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Postnatal growth retardation, Severe sh... OMIM:618728
Robin Sequence-Oligodactyly Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormali... ORPHA:3104
Azotemia, Familial
Azotemia OMIM:109160
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia,... OMIM:617866
Coxopodopatellar Syndrome
Hip dysplasia, Aplasia/Hypoplasia of the patella, Abnormality of pelvic girdle bone morphology, A... ORPHA:1509
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Intrauterine growth retardation, Slender long bone, Macrocephaly, Abnorm... ORPHA:1506
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Craniodiaphyseal Dysplasia
Macrocephaly, Abnormality of the ribs, Diaphyseal thickening, Short stature ORPHA:1513
Acrocapitofemoral Dysplasia
Narrow chest, Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st... OMIM:607778
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Ulnar Hemimelia
Radial club hand, Short forearm, Duplication of phalanx of 3rd finger, Aplasia of the 4th finger,... ORPHA:93320
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Congenital thrombocytopenia, Syndactyly, Aplastic anemia, Amegakaryo... OMIM:605432
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Disproportionate short stature, Short thorax, Narrow... ORPHA:1801
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs, Microcephaly, Short stature ORPHA:2435
Heart Defects-Limb Shortening Syndrome
Disproportionate short stature, Narrow chest, Mesomelic/rhizomelic limb shortening, Death in infa... ORPHA:1354
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Thoracic hypoplasia, Irregular epiphyses, Narrow iliac wing, Hypoplastic... OMIM:608728
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydacty... OMIM:613091
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Mild short stature, Pectus excavatum, Postaxial polydactyly, A... OMIM:618167
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... OMIM:615633
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Thanatophoric Dysplasia, Type I
Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Wide... OMIM:187600
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Bardet-Biedl Syndrome 22
Polydactyly, Microcephaly OMIM:617119
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Severe short stature, Short long bo... OMIM:250460
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Synostosis of carpal b... ORPHA:93351
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Metaphysea... OMIM:269250
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Postnatal growth ... OMIM:614326
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Biemond Syndrome Type 2
Delayed puberty, Preaxial polydactyly, Short stature ORPHA:141333
Diastrophic Dysplasia
Costal cartilage calcification, Disproportionate short-limb short stature, Hitchhiker thumb, Shor... OMIM:222600
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Pectus carinatum, Flattened proximal radial epiphyses, Short long bone, Dispro... OMIM:271530
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Hypoplasia of the ulna, Bilateral single transverse p... ORPHA:1972
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta, Microcephaly ORPHA:64754
Exostoses, Multiple, Type Ii
Genu valgum, Scapular exostoses, Madelung-like forearm deformities, Rib exostoses, Coxa vara, Pro... OMIM:133701
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Thanatophoric Dysplasia, Type Ii
Lethal short-limbed short stature, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Wide... OMIM:187601
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Interphalangeal joint contracture of finger, Short stature, Intrauteri... OMIM:606242
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... ORPHA:1837
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Bra... ORPHA:1278
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Abnormal hip bone morphology, U... ORPHA:1146
Beukes Hip Dysplasia
Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Fl... OMIM:142669
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Severe l... OMIM:151210
Acrorenal Syndrome
Split hand, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, Abnormality of the... ORPHA:971
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Disproportionate short stature, Broa... OMIM:609616
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly, Short stature OMIM:618123
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula... OMIM:616860
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of epiphysis morphology, Severe short stature, Intrauterine growth retardation, Abnor... ORPHA:2643
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Intrauterine ... OMIM:617604
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Horizontal ribs, Hypoplastic iliac wing, Short ribs, Short long bon... OMIM:200610
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... OMIM:171480
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Polydactyly, Short ribs, Short long bone, Short stature, Brachydactyly OMIM:613819
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal cupping, ... OMIM:300863
Exostoses, Multiple, Type I
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133700
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly, ... OMIM:618142
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndac... ORPHA:380
Orofaciodigital Syndrome Type 10
Prominent calcaneus, Oligodactyly, Radial deviation of the hand, Mesomelic arm shortening, Tarsal... ORPHA:2756
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Coxa vara, Flared, irregular rib ends, Short palm, Micromelia ORPHA:168555
Odontochondrodysplasia 1
Short phalanx of finger, Narrow chest, Flared iliac wing, Death in infancy, Flat acetabular roof,... OMIM:184260
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He... OMIM:300908
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsal, Broad palm, Pectu... OMIM:271650
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Narrow chest, Broad palm, Rhizomelia, Mesomelia, Short foot, Short me... OMIM:611263
Oslam Syndrome
Clinodactyly, Radioulnar synostosis, Anemia, Radial deviation of finger OMIM:165660
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Short lon... ORPHA:93308
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Rhizomelia, Thoracic hypoplasia,... OMIM:602271
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Complete duplication of the 1st metatarsal, Clinodactyly of the 5th finger, Preaxial polydactyly OMIM:129540
Juberg-Hayward Syndrome
Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Radioulnar synostosis, Abnormali... ORPHA:2319
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Bowing of the long bones, Abnormality of femur morphology, Abnor... ORPHA:1802
Metatropic Dysplasia
Camptodactyly of finger, Narrow chest, Severe short stature, Long thorax, Coarse metaphyseal trab... ORPHA:2635
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... ORPHA:93307
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Diastrophic Dwarfism
Hip dysplasia, Abnormality of the ribs, Camptodactyly of finger, Abnormal clavicle morphology, Ab... ORPHA:628
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Elbow dislocation, Broad hallux phalanx, Hypoplasia of the... ORPHA:2249
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Childhood onset short-limb short stature, Metaph... OMIM:177170
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Microcephaly, Preaxial hand polydactyly OMIM:601420
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Endosteal Hyperostosis, Worth Type
Abnormality of the ribs, Clavicular sclerosis, Diaphyseal thickening ORPHA:2790
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Rhizomelia, Hypoplastic inferior ilia, Short finger, Metaphyseal cuppin... OMIM:608940
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal irregularity, Carpal bone hypoplasia, Disproportionate short-limb short stature, Genu... OMIM:250420
Acromicric Dysplasia
Short phalanx of finger, Cone-shaped epiphysis, Severe short stature, Short foot, Fifth metacarpa... OMIM:102370
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Autosomal Recessive Kenny-Caffey Syndrome
Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Thin ribs... ORPHA:93324
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Rhizomelic Syndrome, Urbach Type
Preaxial hand polydactyly, Wide anterior fontanel, Abnormality of epiphysis morphology, Rhizomeli... ORPHA:3098
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Short stature, Abnormali... ORPHA:93316
Achondrogenesis Type 1B
Abnormality of the ribs, Short thorax, Disproportionate short stature, Narrow chest, Severe short... ORPHA:93298
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Abnormality of epiphysis morphology, Rhizomelia, Bowi... ORPHA:93267
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Thoracolaryngopelvic Dysplasia
Hypoplastic pelvis, Hypoplastic iliac wing, Horizontal ribs, Short ribs, Bell-shaped thorax, Irre... OMIM:187760
Dyggve-Melchior-Clausen Disease
Short metatarsal, Shield chest, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Postnat... OMIM:223800
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Narrow chest, Short ribs, Limb undergrowth, Coarse metaphyseal trabeculariza... OMIM:618961
Autosomal Dominant Spondylocostal Dysostosis
Abnormality of the ribs, Short thorax, Posterior rib fusion, Severe short stature, Intrauterine g... ORPHA:1797
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Hip subluxation, Protrusio acetabuli, Flattened femoral head, Coxa vara, Broad rad... ORPHA:99642
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Genu valgum, Limited elbow extension, Short thorax, Pectus carinatum, Rhiz... ORPHA:239
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Wide anterior fontanel, Narrow chest, Preaxial polydactyly, Horizontal rib... OMIM:617925
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Squared iliac bones, Narrow chest, Hypoplastic pelvis, Rhizomelia, Preaxial polydactyly, Horizont... OMIM:616300
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Fibular hypoplasia, Ulnar bowing, Single tran... OMIM:113470
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Abnormal cartilage matrix, Severe short-limb dwarfism, Wide anterior fontan... ORPHA:2347
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna OMIM:241600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Macrocephaly, Diaphyseal sclerosis, Short stature, Thickened ribs OMIM:122860
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Congenital Dyserythropoietic Anemia Type Iii
Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo... ORPHA:98870
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Hypoplastic i... OMIM:617895
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short thorax, Short metatarsal, Short phalanx of finger, Narrow chest, Postaxial polydactyly, Lim... OMIM:617102
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Laron Syndrome
Limb undergrowth, Short long bone, Severe short stature, Delayed menarche OMIM:262500
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot polydactyly, R... ORPHA:1988
Endocrine-Cerebroosteodysplasia
Shield chest, Narrow chest, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap,... OMIM:612651
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia ORPHA:1765
Biemond Syndrome Ii
Preaxial hand polydactyly, Short stature OMIM:210350
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... ORPHA:3082
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Rhizomelia, Thoracic hypoplasia, Irregular iliac crest... ORPHA:168549
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb OMIM:179270
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Hypoplasia of the ulna, Single transverse... OMIM:227270
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Bowing of the long bones, Short long bone, Neonatal death, Talipes equinovar... OMIM:224410
Holt-Oram Syndrome
Abnormal clavicle morphology, Broad thumb, Radioulnar synostosis, Finger syndactyly, Split hand, ... ORPHA:392
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the long bones, Short... ORPHA:2097
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Postnatal growth retardation, Relative macrocephaly, Short sta... ORPHA:231140
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Genu valgum, Short thorax, Disproportionate short stature, Thoracic hypoplasia, Short long bone, ... OMIM:618363
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Dyssegmental Dysplasia With Glaucoma
Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Short stature, Dela... OMIM:601561
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Prominent sternum, Flared iliac wing, Broad palm, Thoracic kyphosis, Short ... OMIM:300232
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Thin clavicles, Wide anterior fo... OMIM:228520
Poland Syndrome
Hypoplasia of deltoid muscle, Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly,... OMIM:173800
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, M... OMIM:184250
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Preaxial hand polydactyly, Camptodac... OMIM:175700
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Short ... OMIM:612447
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Rib fusion, Short stature OMIM:609813
Cat-Eye Syndrome
Abnormality of the ribs, Hip dysplasia, Short stature, Intrauterine growth retardation ORPHA:195
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Death in infancy, H... ORPHA:163966
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Thin ribs, Clinodactyly of the 3rd toe, Epiphyseal streaking, Short stat... OMIM:604922
Xylt1-Cdg
Broad thumb, Broad ribs, Growth delay, Short long bone, Clinodactyly, Relative macrocephaly, Flar... ORPHA:370930
Trisomy 4P
Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly, Short stature, Microcephaly ORPHA:1738
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral met... OMIM:184253
Otopalatodigital Syndrome Type 2
Short hallux, Camptodactyly of finger, Tarsal synostosis, Narrow chest, Flared iliac wing, Synost... ORPHA:90652
X-Linked Intellectual Disability, Siderius Type
Preaxial hand polydactyly, Large hands ORPHA:85287
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Cutaneous syndactyly, Narrow chest, Postnatal growth retard... OMIM:615777
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Lateral clavicle hook, Postaxial hand polydactyly, Thoracic hypoplasia, Bell-shaped ... OMIM:615630
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Acrocephalopolydactyly
Short long bone, Thoracic hypoplasia, Brachydactyly, Limb undergrowth ORPHA:221054
Lethal Recessive Chondrodysplasia
Narrow chest, Flared elbow metaphyses, Limb undergrowth, Short long bone, Micromelia ORPHA:1423
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Achondrogenesis, Type Ia
Hypoplasia of the radius, Abnormal hand bone ossification, Stillbirth, Beaded ribs, Hypoplastic s... OMIM:200600
Joubert Syndrome 10
Macrocephaly, Growth delay, Postaxial polydactyly OMIM:300804
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... OMIM:277170
Achondrogenesis Type 1A
Short thorax, Narrow chest, Severe short stature, Multiple rib fractures, Short foot, Macrocephal... ORPHA:93299
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Pectus carinatum, Pectus excavatum... OMIM:618150
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly,... OMIM:614091
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of... ORPHA:2370
Dominant Beta-Thalassemia
Genu valgum, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231226
Three M Syndrome 2
Prominent calcaneus, Short thorax, Scapular winging, Pectus carinatum, Severe short stature, Thin... OMIM:612921
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Acromicria, Postnatal growth retardation, Clinodactyly, Relative macrocephaly, Small hand, Short ... ORPHA:254525
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand OMIM:277150
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Pre... ORPHA:1540
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Wide anterior fontanel, Narrow chest, Hypoplastic scapulae, ... ORPHA:2021
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Disproportionate short-limb short stature, Postaxial hand polyd... OMIM:225500
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Intrauterine growth retardation, Short stature, Abnormality of the... ORPHA:2145
Hypophosphatasia
Narrow chest, Bowing of the long bones, Abnormality of the metaphysis, Short stature, Abnormality... ORPHA:436
Opsismodysplasia
Anterior rib cupping, Squared iliac bones, Narrow chest, Rhizomelia, Short palm, Metaphyseal cupp... OMIM:258480
Oslam Syndrome
Abnormality of neutrophils, Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean... ORPHA:2760
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Short stature, Abno... ORPHA:2522
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Intrauterine growth retardation, Microcephaly, Hypoplastic ischia, Polydactyly OMIM:616910
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Hand oligodactyly, Absent thumb, Proximal placement of thumb... OMIM:602418
Microcephaly-Micromelia Syndrome
Oligodactyly, Talipes equinovarus, Humeroradial synostosis, Narrow chest, Intrauterine growth ret... OMIM:251230
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... OMIM:250220
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the elbow, Slender long bone, Abnormal hip bone morphology, Short stature, Abnorma... ORPHA:1486
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Elbow dislocation, Hitchhiker thumb, Rhizomelia, Sandal ... OMIM:108721
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Narrow chest, ... ORPHA:93296
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Aplastic clavicle, Micromelia OMIM:616546
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Preaxial hand polydactyly, Posterior rib fusion, Pectus excavatum, Abnormal rib cage morphology, ... OMIM:608406
Brachydactyly, Type B1
Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/Hypoplasia of the di... OMIM:113000
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Narrow chest, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Thin cl... OMIM:210720
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Eiken Syndrome
Broad ribs, Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finge... OMIM:600002
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Thin clavicles, Thin ribs, Slender long bone, Small hand, Birth leng... OMIM:244460
Achondroplasia
Thoracolumbar kyphosis, Limited elbow extension, Short proximal phalanx of finger, Disproportiona... ORPHA:15
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasia, Hypoplasia of the ulna,... OMIM:618395
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Spina bifida occulta, Abnormality of the ribs, Clinodactyly ... ORPHA:2475
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Short toe, Short phalanx of finger, Tapered metacarpals, Single interphalangeal c... OMIM:611717
Meier-Gorlin Syndrome 7
Wide anterior fontanel, Growth delay, Preaxial polydactyly, 2-3 toe syndactyly, Aplasia/Hypoplasi... OMIM:617063
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Elbow dislocation, Micromelia, Madel... ORPHA:321
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... OMIM:119800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregularity, Growth delay, Bulgi... OMIM:600081
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Orofaciodigital Syndrome Type 6
Biparietal narrowing, Hand polydactyly, Central Y-shaped metacarpal, Finger clinodactyly, Mesoaxi... ORPHA:2754
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Postnatal growth retardation, Relative macrocephaly, Shor... ORPHA:231144
Three M Syndrome 1
Short thorax, Scapular winging, Hypoplastic pelvis, Growth delay, Pectus excavatum, Postnatal gro... OMIM:273750
Kyphomelic Dysplasia
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Tibial bowing, Flat acetabula... OMIM:211350
3M Syndrome
Rocker bottom foot, Short thorax, Scapular winging, Congenital hip dislocation, Enlarged thorax, ... ORPHA:2616
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Thrombocytopenia, Aplasia/Hypopl... ORPHA:3320
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypop... OMIM:208500
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Broad ribs, Split hand, Carpal bone hypoplasia, Short ribs, Short long bo... OMIM:252600
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Short stature, Spina bifida occulta, Abnormality of the ribs, Missing ribs OMIM:613686
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Preaxial polydacty... OMIM:607323
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Sandal gap, Abnormal hip bone morphology, Abnorm... ORPHA:2725
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Cervical ribs, Syndactyly, Clinodactyl... OMIM:148050
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Short stature OMIM:300484
Renpenning Syndrome
Abnormal thumb morphology, Growth delay, Pectus excavatum, Sprengel anomaly, Severe short stature... ORPHA:3242
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Melnick-Needles Syndrome
Short thorax, Narrow chest, Bowing of the long bones, Short distal phalanx of finger, Osteolytic ... ORPHA:2484
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... OMIM:608571
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Postnatal growth retardation, Intrauterine growth retardation, Metaphyseal dysplasia, Macrocephal... OMIM:614732
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Camptodactyly, Broad long bones, Bowing of the long bones, Severe short stature, Sh... OMIM:224400
Osteogenesis Imperfecta, Type Ii
Beaded ribs, Broad long bones, Tibial bowing, Crumpled long bones, Abnormality of pelvic girdle b... OMIM:166210
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Narrow chest, Metaphyseal cupping, Bell-shaped thorax, Short ribs, Hypoplast... OMIM:613320
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Talipes equinovarus, Short long bone, Short thorax, Death in infancy OMIM:618845
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Camptodactyly, Postnatal growth retardation, Intrauterine growth retardation, Small h... OMIM:611209
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Preaxial hand polydactyly, Postaxial hand pol... OMIM:252100
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cubitus valgus, Short thorax, Abnormal metatarsal morphology, Enlarged thorax, Hypoplastic pelvis... ORPHA:163654
Becker Nevus Syndrome
Abnormality of tibia morphology, Pectus carinatum, Pectus excavatum, Upper limb asymmetry, Rib fu... ORPHA:64755
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Splenomegaly, Abn... ORPHA:3035
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Beaded ribs, Pectus excavatum, Short lower limbs, Disproportionate short-limb s... OMIM:259440
Craniometadiaphyseal Dysplasia
Genu valgum, Cubitus valgus, Broad ribs, Wide anterior fontanel, Broad long bones, Flared metaphy... OMIM:269300
Joubert Syndrome 18
Intrauterine growth retardation, Camptodactyly, Polydactyly OMIM:614815
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Narrow chest, Bilateral single transverse palma... ORPHA:1703
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Congenital hip dislocation, Broad thumb, Narrow c... OMIM:304120
Meckel Syndrome, Type 8
Polydactyly, Microcephaly, Postaxial hand polydactyly, Talipes equinovarus OMIM:613885
Hyperparathyroidism, Transient Neonatal
Thin ribs, Narrow chest, Femoral bowing, Short ribs OMIM:618188
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Talipes equinovarus, Postnatal growth retardation, Slender finger, Long toe, Microcephaly, Long f... OMIM:613355
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Preaxial hand polydactyly, Abnormal thumb morphology, Death in infancy, Bilateral single transver... ORPHA:1120
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormality of the ribs, Sprengel anomaly, Sandal gap, Macrocephaly, Brachydactyly ORPHA:2180
Mucopolysaccharidosis Type 4
Abnormality of the ribs, Genu valgum, Short thorax, Abnormality of epiphysis morphology, Pectus c... ORPHA:582
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Broad palm, Aplasia/Hypoplasia of metatarsal bones... ORPHA:2502
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, Wide anterior fontanel, Abnormal diaphysis morphology, Short tubular bones of the han... ORPHA:85184
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Carpal bone hypoplasia, Abnormal sternum morphology, Flattened femoral head, Toe clinodactyly, Sm... ORPHA:457395
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Camptodactyly of toe, Ulnar bowing, Slender long... OMIM:600920
Kniest-Like Dysplasia, Lethal
Lethal short-limbed short stature, Broad ribs, Metaphyseal irregularity, Wide anterior fontanel, ... OMIM:245190
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia, Spina bifida occulta OMIM:184400
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu... ORPHA:231111
Cleidocranial Dysplasia
Abnormality of the ribs, Genu valgum, Abnormal thumb morphology, Narrow chest, Abnormality of epi... ORPHA:1452
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Elbow ankylosis, Hypoplasia of the ul... ORPHA:2557
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ribs, Camptodactyly of finger, Short thorax, Finger syndactyly, Rib segmentati... ORPHA:2311
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Cooper-Jabs Syndrome
Camptodactyly of finger, Abnormal hip bone morphology, Short stature, Abnormality of the ribs, Pr... ORPHA:1488
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Pectus excavatum, Postaxial polydactyly, Clinodac... OMIM:258860
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Forearm undergrowth, Absent radius, Bowed forearm bones OMIM:602200
Hypochondroplasia
Abnormality of femur morphology, Bowing of the long bones, Genu varum, Short toe, Abnormality of ... ORPHA:429
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, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Short 1st metacarpal, Hy... OMIM:619135
Braddock Syndrome
Preaxial hand polydactyly, Pectus excavatum, Short stature, Intrauterine growth retardation, Miss... ORPHA:52047
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Sprengel anomaly, Talipes equinovarus, Cervical ribs, Preaxial hand polydactyly OMIM:601389
Mend Syndrome
Overlapping fingers, Overlapping toe, Polydactyly, 2-3 toe syndactyly, Short stature, Long fingers OMIM:300960
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Abnormal hip bone morphology, Abnormality of the ribs, A... ORPHA:363705
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Clubbing of fingers, Narrow chest, Abnormal thorax morphology, Postnatal growth retardation, Shor... ORPHA:73230
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Broad ribs, Rhizomelia, Short ribs, Short humerus, Short stature, Short clavicles, Short femoral ... OMIM:610319
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Intrauterine growth retardation, Abnormality of the ribs, Microcephaly, Disproportionate short-li... ORPHA:2772
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Phaver Syndrome
Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Broad hallux phalanx, Intrauterine g... ORPHA:2876
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormality of the ulna, Abnormality of the metacarpal bones ORPHA:2233
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal hip bone morphology, Short stature, Abnormality of the ribs, Microceph... ORPHA:3068
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Elbow dislocation, Rhiz... OMIM:108720
Spondylometaphyseal Dysplasia, Sedaghatian Type
Disproportionate short stature, Metaphyseal chondrodysplasia, Narrow chest, Short palm, Cone-shap... ORPHA:93317
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormally shaped carpal bones, Short thumb, Short metacarpal, Abnormality of ... ORPHA:968
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Growth delay, Foo... OMIM:206920
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... ORPHA:950
Campomelic Dysplasia
Disproportionate short-limb short stature, Wide anterior fontanel, Thoracic hypoplasia, Hypoplast... OMIM:114290
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Triangular sha... OMIM:271665
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Overlapping toe, Pectus excavatum, Postaxial polydactyly OMIM:616580
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Postnatal growth retardation, Relative macrocephaly, Syndactyly, Intrauterine growth... ORPHA:397590
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Camptodactyly, Hypoplasia of the ulna, Clinodac... ORPHA:2804
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Microcephaly, Abnormal clavicle morphology ORPHA:276422
Poland Syndrome
Absent hand, Split hand, Abnormal sternum morphology, Unilateral brachydactyly, Spina bifida occu... ORPHA:2911
Prader-Willi Syndrome Due To Imprinting Mutation
Small hand, Narrow palm, Abnormality of ulnar metaphysis, Short foot ORPHA:177910
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate... OMIM:256050
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Lateral ... OMIM:263520
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, Abnormality of pelvic ... OMIM:144750
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
20P13 Microdeletion Syndrome
Wide anterior fontanel, Finger syndactyly, Polydactyly, Clinodactyly, Macrocephaly, Microcephaly,... ORPHA:313781
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Pallister W Syndrome
Radial bowing, Cubitus valgus, Camptodactyly, Hypoplasia of the ulna, Radial deviation of finger,... OMIM:311450
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Postaxial foot polydac... OMIM:601027
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Campomelia, Cumming Type
Bowing of the long bones, Death in infancy, Abnormal thorax morphology, Clubbing of toes, Abnorma... ORPHA:1318
Seckel Syndrome 1
Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, Proportionate short s... OMIM:210600
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synostosis of carp... ORPHA:3258
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Brachydactyly, Short stature OMIM:618265
3Mc Syndrome 3
Radioulnar synostosis, Growth delay, Preaxial polydactyly, Clinodactyly, Short stature OMIM:248340
Coxoauricular Syndrome
Hip dislocation, Abnormality of pelvic girdle bone morphology, Abnormality of femur morphology ORPHA:1508
Pyknoachondrogenesis
Aplastic pubic bones, Short thorax, Short iliac bones, Enlarged thorax, Horizontal ribs, Abnormal... ORPHA:3003
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Broad ribs, Abnormal sternum morphology, Short ribs, Abnormality of t... ORPHA:2519
Nail-Patella Syndrome
Limited elbow extension, Triceps aplasia, Biceps aplasia, Hypoplastic radial head, Iliac horns, D... OMIM:161200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Subperiosteal bone resorption, Delayed epiphyseal ossification, Metaphyseal ir... OMIM:264700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Progressive macrocephaly, Syndactyly OMIM:602501
Stuve-Wiedemann Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Short phalanx of finger, Fle... OMIM:601559
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Talipes equinovarus, Narrow chest, Broad long bones, Hypoplastic ilia, Hypop... ORPHA:1865
Uremic Pruritus
Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia, Increased blood urea nitrogen ORPHA:94059
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Preaxial hand polydactyly, Syndactyly, Stillbirth OMIM:263630
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregularity, Growth delay, Bulgi... OMIM:241530
Isolated Klippel-Feil Syndrome
Abnormality of the ribs, Abnormal shoulder morphology, Sprengel anomaly ORPHA:2345
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hypopla... OMIM:304950
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Abnormality of pelvic girdle bone morphology, Ulnar devia... ORPHA:2928
Dysspondyloenchondromatosis
Genu valgum, Abnormality of fibula morphology, Metaphyseal enchondromatosis, Abnormality of ulnar... ORPHA:85198
Lambotte Syndrome
Intrauterine growth retardation, Microcephaly, Preaxial foot polydactyly OMIM:245552
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Thoracic hypoplasia, Beaded ribs, Short ribs, Decreased fibular diameter, Limb under... OMIM:616897
Cole-Carpenter Syndrome
Bowing of the long bones, Crumpled long bones, Intrauterine growth retardation, Abnormality of th... ORPHA:2050
Nephronophthisis 15
Polydactyly OMIM:614845
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Mild short stature, Polydacty... OMIM:169400
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Elbow dislocation, Camptodactyly, Birth length less than 3rd percentile, Ge... OMIM:224690
Marshall Syndrome
Radial bowing, Wide tufts of distal phalanges, Hypoplastic ilia, Coxa valga, Small distal femoral... OMIM:154780
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Abnormality of the ribs, Clinodactyly of the 5th finger, Missing ribs, Arachnodactyly ORPHA:2759
Cole-Carpenter Syndrome 2
Pectus excavatum, Narrow iliac wing, Postnatal growth retardation, Thin ribs, Short stature, Macr... OMIM:616294
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Rhizomelia, Growth delay, Bowing of the long bones, Metaphyseal cupping, Severe short stature, Li... ORPHA:85167
Holzgreve Syndrome
Hand polydactyly, Abnormality of the metacarpal bones, Intrauterine growth retardation, Abnormali... ORPHA:2167
Bardet-Biedl Syndrome 17
Polydactyly, Brachydactyly, Mesoaxial polydactyly OMIM:615994
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Carpenter Syndrome 1
Flared iliac wing, Camptodactyly, Metatarsus adductus, Spina bifida occulta, Shallow acetabular f... OMIM:201000
Vater/Vacterl Association
Hypoplasia of the radius, Radioulnar synostosis, Abnormal sternum morphology, Preaxial polydactyl... OMIM:192350
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Short l... ORPHA:2256
Campomelic Dysplasia
Narrow chest, Hypoplastic inferior ilia, Bowing of the long bones, 11 pairs of ribs, Tibial bowin... ORPHA:140
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Disproportionate short-limb short stature, Wide anterior fontanel, Tibial bo... OMIM:259420
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hip dysplasia, Postnatal growth retardation, Talipes equinovarus, Clinodactyly of the 5th finger,... OMIM:617219
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Rib fusion, Carpal synostosis, Pseudoepiphyses, Short s... OMIM:157800
Mucopolysaccharidosis, Type Iva
Genu valgum, Prominent sternum, Constricted iliac wing, Flaring of rib cage, Pointed proximal sec... OMIM:253000
Kniest Dysplasia
Dumbbell-shaped femur, Metaphyseal widening, Short thorax, Disproportionate short stature, Flexio... ORPHA:485
X-Linked Hypophosphatemia
Genu valgum, Disproportionate short stature, Sacroiliac joint synovitis, Flared iliac wing, Abnor... ORPHA:89936
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bones of the extre... ORPHA:94068
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Spondyloepimetaphyseal Dysplasia, Shohat Type
Disproportionate short stature, Metaphyseal irregularity, Abnormality of epiphysis morphology, Th... ORPHA:93352
Thoracomelic Dysplasia
Genu valgum, Abnormality of the metaphysis, Abnormality of fibula morphology, Abnormality of pelv... ORPHA:1803
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Aplasia/Hypoplasia of the capital femoral epiphysis, Large tarsal bones, Short phalanx of finger,... OMIM:215150
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Macrocephaly, Abnormality of the ribs OMIM:300864
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Pe... ORPHA:958
Dysosteosclerosis
Disproportionate short stature, Broad ribs, Narrow chest, Progressive bowing of long bones, Short... OMIM:224300
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Short thumb OMIM:613390
Nestor-Guillermo Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Abnormality of the forearm, Progressive c... OMIM:614008
Stromme Syndrome
Microcephaly, Preaxial polydactyly, Stillbirth OMIM:243605
Trisomy 1Q
Abnormality of the ribs, Camptodactyly of finger, Preaxial hand polydactyly, Toe syndactyly, Shor... ORPHA:261344
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Postnatal growth retardation, Short stature, Microcephaly, Tapered finger OMIM:613792
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Abnormality of the radius ORPHA:2165
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Flared iliac wing, Metatarsus adductus, Short femoral neck, Ad... OMIM:271640
Osteogenesis Imperfecta, Type X
Genu valgum, Broad ribs, Narrow chest, Bowing of the long bones, Thin ribs, Relative macrocephaly... OMIM:613848
Short-Rib Thoracic Dysplasia 12
Short toe, Short thorax, Narrow chest, Broad palm, Hypoplastic scapulae, Short finger, Horizontal... OMIM:269860
Mucopolysaccharidosis, Type Ivb
Genu valgum, Prominent sternum, Constricted iliac wing, Flaring of rib cage, Pointed proximal sec... OMIM:253010
Trisomy 13
Postaxial hand polydactyly, Narrow chest, Bilateral single transverse palmar creases, Intrauterin... ORPHA:3378
Chondrodysplasia Punctata 2, X-Linked Dominant
Epiphyseal stippling, Polydactyly, Hemiatrophy, Postaxial polydactyly, Postnatal growth retardati... OMIM:302960
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemia, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic ricket... OMIM:307800
Cardioacrofacial Dysplasia 1
Genu valgum, Postaxial polydactyly, Limb undergrowth, Long thorax OMIM:619142
Spondylocostal Dysostosis 1, Autosomal Recessive
Disproportionate short-trunk short stature, Death in infancy, Rib fusion, Severe short stature OMIM:277300
Metaphyseal Chondrodysplasia, Jansen Type
Clubbing of fingers, Metaphyseal chondrodysplasia, Bowing of the long bones, Metaphyseal cupping,... OMIM:156400