Gene Summary

Name:
paired-like homeodomain transcription factor 1
Synonyms:
Bft,  P-OTX,  Potx,  Ptx1

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
abnormal femur morphology Pitx1em1(IMPC)Wtsi HET Early adult 6.01×10-09
preweaning lethality, complete penetrance Pitx1em1(IMPC)Wtsi HOM   Early adult 0.00
abnormal autopod morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.08×10-05
fused phalanges Pitx1em1(IMPC)Wtsi HET Early adult 4.08×10-05
vertebral transformation Pitx1em1(IMPC)Wtsi HET Early adult 7.17×10-05
abnormal tibia morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.71×10-16
abnormal digit morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.39×10-08
polysyndactyly Pitx1em1(IMPC)Wtsi HET Early adult 5.63×10-08
abnormal joint morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.34×10-13
abnormal nail morphology Pitx1em1(IMPC)Wtsi HET   Early adult 8.67×10-06
abnormal cornea morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.22×10-08

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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 Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Anti-nuclear antibody assay

Images

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 65 images

View all 18 images

Human diseases caused by Pitx1 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 Pitx1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Stillbirth, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talip... OMIM:119800
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275

The table below shows human diseases predicted to be associated to Pitx1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Upington Disease
Flattened femoral head, Broad femoral neck, Multiple enchondromatosis, Arthralgia of the hip OMIM:191520
Upington Disease
Broad femoral neck, Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia o... ORPHA:3408
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, High palate, ... OMIM:147891
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Metachondromatosis
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Multiple enchondromatosis ORPHA:2499
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short finger, Abnormal long bone morphology, Short toe, Abnormal pelvic girdle bone morphology OMIM:259270
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology ORPHA:2730
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... ORPHA:1509
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... ORPHA:3329
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Sensorineural hearing impairment, Femoral bowing, Glossoptosis, Micromelia, Dumbbell-... ORPHA:440354
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Genu valgum, Talipes equinovarus, Hip dysplasia, Acetabular dysplasia, Coxa valga OMIM:613618
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Meier-Gorlin Syndrome 5
Slender long bone, Small earlobe, Microtia, Low-set ears, Prominent metopic ridge, Hypoplasia of ... OMIM:613805
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... ORPHA:1453
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin creases over affecte... OMIM:618167
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Congenital contracture, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Myopathy, Ta... OMIM:208100
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Micrognathia, Mesomelia... ORPHA:1277
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Dermochondrocorneal Dystrophy
Abnormality of the hand, Corneal dystrophy, Large hands ORPHA:79149
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Oligodactyly, Tibial bowi... ORPHA:93323
Orofaciodigital Syndrome Iv
Short finger, Hamartoma of tongue, Low-set ears, Tongue nodules, High palate, Foot polydactyly, P... OMIM:258860
Femoral-Facial Syndrome
Abnormal fibula morphology, Orofacial cleft, Microtia, Low-set ears, Abnormal pelvic girdle bone ... ORPHA:1988
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Cleft palate, Malar flattening, Short foot, Small hand OMIM:300261
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Catel-Manzke Syndrome
Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Glossopt... ORPHA:1388
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft ... OMIM:249710
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... OMIM:609324
Meier-Gorlin Syndrome 4
Thick lower lip vermilion, Slender long bone, Genu recurvatum, Microtia, Low-set ears, Narrow mou... OMIM:613804
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Pes cavus, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upp... OMIM:619216
Fryns-Smeets-Thiry Syndrome
Thick lower lip vermilion, Short philtrum, Everted lower lip vermilion, Arachnodactyly, Micrognat... ORPHA:2058
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Arthropathy, Short distal phalanx of toe, Sho... OMIM:606835
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Foot dorsiflexor weakne... OMIM:181400
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Syndactyly, Short tibia, Median cleft upper lip OMIM:300484
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Fused cervica... ORPHA:3320
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Cleft hard palate, Small epiphyses, Delayed epiphyse... ORPHA:166016
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel... OMIM:201170
Rapadilino Syndrome
High, narrow palate, Joint dislocation, Aplasia/Hypoplasia of the patella, High palate, Hearing i... OMIM:266280
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal metaphysis morphology, Narrow greater sciatic notch, Short iliac bones, Genu valgum, Abn... ORPHA:93316
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Winchester Syndrome
Carpal osteolysis, Arthropathy, Hirsutism, Corneal opacity, Broad metacarpals, Kyphosis, Osteolys... OMIM:277950
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Foot joint contracture, Camptodactyly, Distal arthrogryposis, Arthrogryposis ... OMIM:614335
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Meier-Gorlin Syndrome 1
Absent sternal ossification, Microtia, Short ribs, Microdontia, Death in infancy, Coxa valga, Gen... OMIM:224690
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Distal Arthrogryposis Type 1
Rocker bottom foot, Talipes, Abnormal hip bone morphology, Camptodactyly of finger, Ulnar deviati... ORPHA:1146
Genitopatellar Syndrome
Knee flexion contracture, Delayed eruption of teeth, Low-set ears, Hypoplastic ilia, Hypoplastic ... ORPHA:85201
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph... OMIM:142669
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda... ORPHA:294975
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal metacarpal morpholo... ORPHA:2631
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... OMIM:211369
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Brachydactyly, Type A4
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... OMIM:112800
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Gombo Syndrome
Delayed puberty, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of... OMIM:607078
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Retrognathia,... ORPHA:2756
Tetrasomy X
Clinodactyly of the 5th finger, Abnormality of the dentition, Radioulnar synostosis, Brachydactyl... ORPHA:9
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor... OMIM:226900
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Humeroradial synostosis, Arachnodactyly, Occipital encephalocele, Oligodactyly OMIM:614416
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Retrognathia, Talipes, Radi... OMIM:227270
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Recombinant 8 Syndrome
Chronic otitis media, Deep plantar creases, Clinodactyly of the 5th finger, Gingival overgrowth, ... ORPHA:96167
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Nail-Patella Syndrome
Limited elbow extension, Pes planus, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoid... OMIM:161200
Epiphyseal Dysplasia, Multiple, 2
Osteochondritis dissecans, Irregular epiphyses, Small epiphyses, Knee osteoarthritis, Flattened k... OMIM:600204
Scholte Syndrome
Acromicria, Patellar hypoplasia, Everted lower lip vermilion, Short foot, Small hand OMIM:300977
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Short... OMIM:256050
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Narrow mouth, Camptodactyly, Metatarsus adductus... OMIM:618435
Pelviscapular Dysplasia
Stenosis of the external auditory canal, Abnormal pinna morphology, Elbow flexion contracture, Lo... ORPHA:93333
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Stillbirth, Patellar hypoplasia, Low-set ears, Absent tibia, Bilateral talip... OMIM:119800
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Congenital Patella Dislocation
Genu valgum, Aplasia/Hypoplasia of the quadriceps, Limited knee extension, Knee flexion contractu... ORPHA:295036
Mosaic Trisomy 8
Deep plantar creases, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Abnormal pin... ORPHA:96061
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Short 2nd toe, Camptodactyly of finger, Short 3rd toe, Talipe... ORPHA:1326
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Protruding ear, Macrotia, Micrognathia, Patellar hypoplasia OMIM:251240
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Long philtrum, Talipes ca... OMIM:265000
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Synophrys, Thick eyebrow, Radioulna... ORPHA:3268
Moderate Multiminicore Disease With Hand Involvement
Type 1 muscle fiber predominance, Distal upper limb muscle weakness, Recurrent patellar dislocati... ORPHA:178145
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Oligodactyly, Split hand, Absent hand ORPHA:2440
Atelosteogenesis Type Ii
Sandal gap, Bilateral cleft palate, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-sha... ORPHA:56304
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of metaphyses o... OMIM:271530
Spondylometaphyseal Dysplasia, Corner Fracture Type
Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,... OMIM:184255
Eiken Syndrome
Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Abnormal acetabulum morpholo... ORPHA:79106
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal palate morphology, Abnormality of the wrist, Abnormal shoulder mor... ORPHA:1350
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Amelia, Low-set ears, Cleft upper lip, Foot oligodactyly, ... OMIM:601357
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Ear-Patella-Short Stature Syndrome
Retrognathia, Bifid uvula, Abnormal epiphysis morphology, Craniosynostosis, Aplastic clavicle, Mi... ORPHA:2554
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Pear-shaped vertebrae, Knee osteoarthritis, Femoral bowing, T... ORPHA:93356
Meier-Gorlin Syndrome 2
Slender long bone, Abnormal pinna morphology, Microtia, Narrow mouth, Camptodactyly, Micrognathia... OMIM:613800
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Bowing of the long bones, Abnormality of the dentition, Carious t... ORPHA:2501
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Short ribs, Hypoplastic pelv... OMIM:616300
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb muscle weakness, Distal amyotrophy, Elbow flexion contracture, Proximal lower l... OMIM:600175
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... OMIM:246570
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Meier-Gorlin Syndrome 3
Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal ossification, Aplasia... OMIM:613803
Aase-Smith Syndrome
Abnormal hip bone morphology, Abnormal pinna morphology, Slender finger, Camptodactyly of finger,... ORPHA:916
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Thin vermilion border, Fibular hypoplasia, Narrow mouth, Absent thumb, Ap... OMIM:612447
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Upper limb amyotrophy, Talipes equinovarus, Lower limb muscle weakness ORPHA:99940
Nail-Patella Syndrome
Abnormal femur morphology, Dislocated radial head, Contracture of the distal interphalangeal join... ORPHA:2614
Blount Disease
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... ORPHA:2768
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... OMIM:609052
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Enchondromatosis, Multiple, Ollier Type
Multiple enchondromatosis, Abnormal long bone morphology OMIM:166000
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs... OMIM:274000
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Retrognathia, Wrist flexion contracture, Bifid uvula, Adducted thumb, Elbow f... OMIM:619110
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Conductive hea... OMIM:185800
Meier-Gorlin Syndrome 6
Sandal gap, Stenosis of the external auditory canal, Microtia, Conductive hearing impairment, Sho... OMIM:616835
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Short hallux, Bilateral conductive hearing impairment, Agenesis of... OMIM:216300
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing... OMIM:211350
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Temporomandibular joint ankylosis, Micrognathia, Cleft palate, Mic... ORPHA:141152
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication o... OMIM:600384
Bowen-Conradi Syndrome
Rocker bottom foot, Orofacial cleft, Clinodactyly of the 5th finger, Death in infancy, Camptodact... ORPHA:1270
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, Short long bone, Death in infancy, Broad thumb, Hypoplasia of the prem... ORPHA:1106
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Microcephaly-Micromelia Syndrome
Oligodactyly, Low-set ears, Narrow mouth, Forearm undergrowth, Micromelia, Humeroradial synostosi... OMIM:251230
Disorganization, Mouse, Homolog Of
Sensorineural hearing impairment, Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplicati... OMIM:223200
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Intervertebral disk calcification, Flat capit... OMIM:614135
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:93394
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
Kniest Dysplasia
Recurrent otitis media, Rhizomelia, Flared metaphysis, Splayed epiphyses, Abnormal cartilage coll... OMIM:156550
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Pes cavus, Thin vermilion border, Patellar hypoplasia, Short philtrum, Abnormal antihelix morphol... ORPHA:3041
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly ORPHA:1471
Atelosteogenesis Type I
Abnormal fibula morphology, Rhizomelia, Joint dislocation, Short long bone, Low-set ears, Microgn... ORPHA:1190
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
17Q21.31 Microduplication Syndrome
Clinodactyly of the 5th finger, Sandal gap, Short philtrum, High palate, Abnormality of the denti... ORPHA:217340
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Micrognathia, Cutaneous syndactyly of toes, Trismus, Deep philtru... OMIM:158300
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Spastic Paraplegia 33, Autosomal Dominant
Lower limb muscle weakness, Talipes equinovarus, Ankle clonus OMIM:610244
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Glossoptosis, Cleft palate OMIM:261800
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... ORPHA:3237
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, Tooth malposition, 2-3 toe syndactyly, Low-set ears, Hearing impa... OMIM:618608
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition, Joint dislocation ORPHA:2380
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the... ORPHA:52056
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal vertebral morphology, Abnormal ilium morphology, Bilateral coxa valga, Abnormality of th... ORPHA:163665
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi... ORPHA:1278
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Genu valgum, Abnormal foot morphology, Small epiphyses, Upper limb underg... ORPHA:94068
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Congenital palmoplantar hyperkeratosis, Autoamputation of digits, Talipes equinovarus OMIM:620009
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius ORPHA:1149
Chromosome 20Q11-Q12 Deletion Syndrome
Short philtrum, Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodac... OMIM:614257
Mucopolysaccharidosis, Type Ix
Recurrent otitis media, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Bifid uvu... OMIM:601492
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Thin vermilion border, Retrognathia, Patellar hypoplasia, Abnormality of the endocrine system, Gi... ORPHA:464288
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, High palate, Abnormal epiphysis morpho... ORPHA:3098
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Talipes equinovarus, Hip dysplasia ORPHA:238578
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Bowen-Conradi Syndrome
Rocker bottom foot, Micrognathia, Clinodactyly of the 5th finger, Abnormal joint morphology OMIM:211180
Stapes Ankylosis With Broad Thumbs And Toes
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Conductive he... OMIM:184460
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Abnormal metacarpal morphology, Sensorineural hearing impairment, Glossoptosis, Micrognathia, Cle... ORPHA:166100
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Abnormality of the ear, Toe... OMIM:183700
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Terminal Osseous Dysplasia
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... OMIM:300244
Orofaciodigital Syndrome Ix
High palate, Abnormality of the dentition, Camptodactyly, Hand polydactyly, Cleft palate, Toe syn... OMIM:258865
17Q23.1Q23.2 Microdeletion Syndrome
Chronic otitis media, Protruding ear, Widely spaced teeth, Clinodactyly of the 5th finger, Patell... ORPHA:261279
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... ORPHA:2632
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Clinodactyly of the 5th finger, Abnormal m... ORPHA:2370
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Long philtrum, Abnormali... ORPHA:2496
Ventriculomegaly And Arthrogryposis
Hand clenching, Arthrogryposis multiplex congenita, Ulnar deviation of the wrist, Talipes equinov... OMIM:619501
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Knee dislocation, Hip dislocation, Hammertoe, Hip dysplasia ORPHA:370943
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Conductive he... ORPHA:2669
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Mandibular prognathia, Abnormality of the dentition, Brachydactyly, Hip d... ORPHA:1858
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the ph... ORPHA:2863
2q37 monosomy
Thin upper lip vermilion, Brachydactyly DECIPHER:44
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Emery-Nelson Syndrome
Abnormal thumb morphology, Metacarpophalangeal joint contracture, High palate, Camptodactyly of f... ORPHA:1927
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Flared metaphysis, Wide anterior fontanel... ORPHA:2347
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Retrognathia, Trismus, Single transverse palmar crease, Elbow flexion contrac... OMIM:108120
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Achondroplasia
Narrow greater sciatic notch, Limited elbow extension, Recurrent otitis media, Rhizomelia, Ulnar ... OMIM:100800
Tetramelic Monodactyly
Split foot, Foot monodactyly, Split hand, Hand monodactyly OMIM:187510
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Thin vermilion border, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Low-set... OMIM:614701
Penoscrotal Transposition
Patellar aplasia, Bilateral single transverse palmar creases, Micrognathia, Clinodactyly of the 5... ORPHA:2842
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of ... ORPHA:93307
Li-Campeau Syndrome
Long philtrum, Low-set ears, Patellar hypoplasia OMIM:619189
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Unilateral cleft lip, Malar flattening, Bra... ORPHA:1919
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Short distal phalanx of hallux, Hearing ... OMIM:256200
Tetralogy Of Fallot
Thin vermilion border, Cryptorchidism, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly, Jejunal atresia ORPHA:391646
20Q11.2 Microdeletion Syndrome
Short philtrum, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly, Talipes calcan... ORPHA:444051
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystroph... ORPHA:2926
9Q33.3Q34.11 Microdeletion Syndrome
Tented philtrum, Thin vermilion border, Fixed elbow flexion, Patellar hypoplasia, Abnormal pinna ... ORPHA:495818
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flared metaphysis, Wormian bones, Short ribs, Low-set ears, Decreased fibular diameter, Micrognat... OMIM:616897
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Rothmund-Thomson Syndrome Type 2
Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, Tooth agene... ORPHA:221016
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Short metacarpal, Bifi... ORPHA:1427
Carpenter Syndrome
Kyphoscoliosis, Polydactyly, Genu valgum, Craniosynostosis, Finger syndactyly, Postaxial hand pol... ORPHA:65759
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Sandal gap, Short philtrum, Single transverse palmar crease, P... OMIM:617927
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Abnormal vertebral morphology, Genu valgum, Delayed epiphyseal ossificatio... ORPHA:166024
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Pes cavus, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Lower limb amyot... ORPHA:90103
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, High, narrow palate, Joint dislocation, Hypodontia, Tapered finger, Glossop... ORPHA:3201
Robinow Syndrome, Autosomal Dominant 2
Mixed hearing impairment, Sensorineural hearing impairment, Dental crowding, Broad thumb, Mesomel... OMIM:616331
Diastrophic Dysplasia
Short finger, Genu valgum, Irregular epiphyses, Cystic lesions of the pinnae, Hitchhiker thumb, S... OMIM:222600
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma, Postaxial hand polydactyly, Short ribs, Microme... OMIM:241800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregu... OMIM:602111
Stuve-Wiedemann Syndrome 1
Flexion contracture of toe, Femoral bowing, Clubbing, Tibial bowing, Short long bone, Death in in... OMIM:601559
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Intellectual Developmental Disorder, Autosomal Recessive 74
Narrow palate, Mandibular prognathia, Brachydactyly OMIM:617169
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Abnormal hair morpholo... ORPHA:64754
Brachydactyly, Type E2
Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly OMIM:613382
Orofaciodigital Syndrome Xix
Retrognathia, Microdontia, Accessory oral frenulum, Tongue nodules, Narrow palate, Midline notchi... OMIM:620107
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Coxa valga, Short greater sciatic notch OMIM:271620
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Auriculoosteodysplasia
Dislocated radial head, Hip dysplasia OMIM:109000
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Solitary median maxillary central incisor, Conical tooth, Postaxi... OMIM:193530
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Delayed pubic bone ossific... ORPHA:1856
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Absent stapes head, Abnormal pinna morphology, Bilateral conductive hearing impairment, Abnormali... OMIM:128980
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal metacarpal morphology, Abnor... ORPHA:1837
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Furrowed tongue, Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Bra... ORPHA:2928
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Low-set ears, Micrognathia, Cleft palate, Talipes equinovarus OMIM:616570
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W... OMIM:617925
Gordon Syndrome
Clinodactyly of the 5th finger, Talipes, Finger syndactyly, High palate, Camptodactyly of finger,... ORPHA:376
Robinow Syndrome, Autosomal Recessive 2
Sandal gap, Triangular mouth, Cleft soft palate, Gingival overgrowth, Prominent fingertip pads, L... OMIM:618529
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Metaphyseal stri... ORPHA:221008
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi... ORPHA:1860
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Retrognathia, Small epiphyses, Short long bone, Glossoptosis, Cleft palate, Pierre-Robin sequence... OMIM:620269
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short philtrum, Hypoplastic iliac wing, Abnormality of the calcaneus, Death in infanc... ORPHA:163966
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Pes cavus, Hammertoe, Distal amyotrophy, Upper limb muscle weakness, Limb muscle weakness, Fiber ... OMIM:608340
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... OMIM:184260
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, 11 pairs of ribs, Low-set ears, High palate, Camptodactyly, Pre... OMIM:618393
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Delayed eruption of teeth, Hypodontia, Short middle phalanx of the 5th finger... ORPHA:63442
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Short long bone, Tooth agenesis, Flattened epiphysis, Coxa valga, Small epiphyses, Hearing impair... OMIM:618363
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Fibular bowing,... ORPHA:3344
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Cervical segmentation defect, Sand... OMIM:108721
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh... ORPHA:93308
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Thickened ears, Death in childhood, Clinodactyly of the 5th finger, Knee flexion contracture, 2-3... OMIM:616809
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... ORPHA:2511
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Auriculocondylar Syndrome 2A
Short mandibular rami, Stenosis of the external auditory canal, Mandibular condyle hypoplasia, De... OMIM:614669
Craniosynostosis 3
Right unicoronal synostosis, Dental malocclusion, Bicoronal synostosis, Single transverse palmar ... OMIM:615314
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Charcot-Marie-Tooth Disease, Type 4H
Pes cavus, Distal lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb muscle wea... OMIM:609311
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Calf muscle hypertrophy, Increased connective tissue, Skeletal muscle atrophy... OMIM:616827
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Short humeru... OMIM:218600
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Sprengel Deformity
Shoulder muscle hypoplasia, Torticollis, Abnormality of the shoulder girdle musculature ORPHA:3181
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Irregular ... OMIM:604864
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Triphalangeal thumb, Conical tooth, Absent middle phalanx of 5th finger, Selective tooth agenesis... OMIM:124480
Craniometaphyseal Dysplasia, Autosomal Dominant
Mixed hearing impairment, Calvarial osteosclerosis, Flared metaphysis, Tooth malposition, Dental ... OMIM:123000
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormal foot morphology, Sensorineural hearing impairment, Abnormality... OMIM:609166
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Acromicric Dysplasia
Abnormal femur morphology, Thick lower lip vermilion, Narrow mouth, Short metacarpal, Abnormal ep... ORPHA:969
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Single transverse palmar crease, Mandibular prognathia, Short distal phal... OMIM:601957
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Pes cavus, Lower limb amyotrophy, Upper limb amyotrophy, Foot dorsiflexor weakness, Talipes equin... OMIM:617087
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing,... OMIM:602080
Mullegama-Klein-Martinez Syndrome
Polydactyly, Absent stapes, Clinodactyly of the 5th finger, Short philtrum, Sensorineural hearing... OMIM:301022
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Abnormal epiphysis morpholo... ORPHA:931
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Mandibular prognathia, Absent phalangeal crease, Ulnar deviation of the hand ... OMIM:601680
Aminopterin Syndrome Sine Aminopterin
Oligodontia, High palate, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Cleft palat... OMIM:600325
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Microdontia, Talon cusp,... OMIM:605282
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... OMIM:146000
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A... ORPHA:971
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the dentition, Syndactyly, Brachydactyly, Hypogonadism, Cryptorchidism OMIM:615982
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Whistling Face Syndrome, Recessive Form
Long philtrum, Knee flexion contracture, Trismus, Shoulder flexion contracture, Whistling appeara... OMIM:277720
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Postaxial hand pol... OMIM:252100
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the hand, Hip subluxation, Wide distal femoral metaphysis, Arthralgia of the hip, ... ORPHA:99642
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Atelosteogenesis Type Iii
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... ORPHA:56305
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Talipes equinovarus OMIM:615683
Temtamy Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Clinodactyly of the 5th finger, Micrognath... ORPHA:1777
Keipert Syndrome
Broad distal phalanx of finger, Exaggerated cupid's bow, Camptodactyly, Broad thumb, Downturned c... OMIM:301026
Baller-Gerold Syndrome
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... ORPHA:1225
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
1-4 finger syndactyly, Split hand, Sparse scalp hair, Camptodactyly, Sparse eyelashes, 3-4 toe sy... OMIM:225280
Coffin-Siris Syndrome 11
Esophageal atresia, Cleft soft palate, High palate, Prominent metopic ridge, Uplifted earlobe, Bi... OMIM:618779
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Craniosynostosis And Dental Anomalies
Chronic otitis media, Dental crowding, Clinodactyly, Narrow palate, Short phalanx of finger, Broa... OMIM:614188
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Distal amyotrophy, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Talipes equinovarus, Join... OMIM:611067
Distal Myopathy, Tateyama Type
Pes cavus, Calf muscle pseudohypertrophy, EMG: myopathic abnormalities, Weakness of the intrinsic... ORPHA:488650
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Syndactyly, Brachydactyly, Peters anomaly, Clinodactyly, Iris... OMIM:610023
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:253310
Cardioacrofacial Dysplasia 2
Genu valgum, Clinodactyly of the 5th finger, Short philtrum, Conical tooth, Mandibular prognathia... OMIM:619143
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Hearing abnormality... ORPHA:1452
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Abruzzo-Erickson Syndrome
Abnormal palate morphology, Cleft palate, Short toe, Malar flattening, Brachydactyly, Radioulnar ... ORPHA:921
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Anterior pituitary hypoplasia, Median cleft palate, Aplasia/Hypoplasia of th... ORPHA:1827
Coxoauricular Syndrome
Abnormal femur morphology, Microtia, Abnormal pelvic girdle bone morphology, Micromelia, Hearing ... ORPHA:1508
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Macroglossia ORPHA:1423
Acrootoocular Syndrome
Short finger, Decreased response to growth hormone stimulation test, Grayish enamel, Supernumerar... ORPHA:2980
Developmental Dysplasia Of The Hip 2
Coxa valga, Hip dysplasia OMIM:615612
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Femoral bowing, Short long bone, Short ribs, Absent tibia, Intestinal malrotation, Cone-shaped ep... OMIM:613091
Anauxetic Dysplasia 2
Cubitus valgus, Coxa vara, Hypoplasia of the femoral head, Hypoplastic iliac body, Metaphyseal dy... OMIM:617396
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, High, narrow palate, Clinodactyly of the 5th finger, ... ORPHA:444002
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Broad finger, Perianal abscess, Upturned corners of mouth, Short phalanx of finger, Thin upper li... OMIM:614684
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Long phi... OMIM:251450
Metatropic Dysplasia
Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Flat acetabular ro... OMIM:156530
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Thin vermilion border, Abnormal palate morphology, Abnormal shoulder morphology, Hearing abnormal... ORPHA:1150
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Talipes equinovarus, Skeletal muscle atrophy OMIM:613162
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Hypoplasi... OMIM:602875
Orofaciodigital Syndrome X
Fibular aplasia, Retrognathia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen... OMIM:165590
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Delayed ossification of carpal bones,... ORPHA:93346
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened humeral heads, Reduced proximal interphalangeal joint space, Flat capital femoral epiph... ORPHA:166011
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Brachydactyly, Dental malocclusion OMIM:619692
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb amyotrophy, Upper limb amyotrophy, Knee flexi... ORPHA:496689
Hip Dysplasia, Beukes Type
Coxa vara, Broad femoral neck, Abnormality of the epiphysis of the femoral head, Hip dysplasia, A... ORPHA:2114
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Pes cavus, Distal lower limb muscle weakness, Knee flexion contracture, Lower limb amyotrophy, Pr... OMIM:615290
Hypomelanosis Of Ito
Radial deviation of finger, Iris coloboma, Scoliosis, Kyphosis, Hand polydactyly, Syndactyly, Cat... OMIM:300337
Trichorhinophalangeal Syndrome, Type Iii
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Supernumerary tooth, Sho... OMIM:190351
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Delayed eruption of teeth, Bowi... ORPHA:166272
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome
Talipes equinovarus ORPHA:85338
Moebius Syndrome
Abnormal pelvic girdle bone morphology, Radial deviation of finger, Split hand, Abnormality of th... OMIM:157900
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Long eyelashes, Short palm, Short phalanx of finge... OMIM:102370
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Hypogonadism, Cone-shaped epiphysis, Genu varum, Cox... ORPHA:950
Arthrogryposis, Distal, Type 2E
Talipes equinovarus, Distal arthrogryposis, Foot joint contracture, Joint contracture of the hand OMIM:121070
Acrofacial Dysostosis, Catania Type
Single transverse palmar crease, Short palm, Carious teeth, Cleft palate, Micrognathia, Malar fla... OMIM:101805
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Thin vermilion border, Death in childhood, Low-set ears, Narrow mouth, Death ... OMIM:618766
Frontometaphyseal Dysplasia 1
Limited elbow movement, Dislocated radial head, Wrist flexion contracture, Arachnodactyly, Increa... OMIM:305620
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Osteochondritis dissecans, Hip osteoarthritis, Mandibular prognathia, Broad hallux, Short thumb, ... OMIM:165800
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Hi... ORPHA:314795
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... ORPHA:85198
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Dental crowding, Thin upper lip vermilion, Brachydactyly OMIM:618879
Scapuloperoneal Spinal Muscular Atrophy
Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus... OMIM:181405
Ollier Disease
Abnormal metaphysis morphology, Abnormal cartilage morphology, Multiple enchondromatosis, Micromelia ORPHA:296
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short ribs, Postaxial hand polydactyly, Acetabular spurs, Death in infancy, Brachydactyly, Triden... OMIM:617405
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Sacral dimple, Abnormal t... ORPHA:2633
Campomelic Dysplasia
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Tibi... OMIM:114290
Cornelia De Lange Syndrome 2
Limited elbow movement, Proximal placement of thumb, High palate, Clinodactyly, Thin upper lip ve... OMIM:300590
Auriculocondylar Syndrome 4
Glossoptosis, Narrow mouth, Question mark ear, Hearing impairment, Micrognathia, Cleft palate OMIM:620457
Wilson-Turner Syndrome
Pes cavus, Malar prominence, Microtia, Tapered finger, Micrognathia, Thin upper lip vermilion, Pe... ORPHA:3459
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Mixed hearing impairment, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes... OMIM:300990
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Pseudopseudohypoparathyroidism
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Pseudohypoparathyroidism, Enamel h... OMIM:612463
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Narrow mouth, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Sensorineural hearing impairment, Abnormal pinna morphology, Flared... ORPHA:949
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short philtrum, Sensorineural hearing impairmen... OMIM:607143
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormality of the hand, Short philtrum, Tooth malposition, High palate, Everted lower lip vermil... ORPHA:1387
Weismann-Netter Syndrome
Fibular bowing, Anterior tibial bowing, Lateral femoral bowing, Squared iliac bones, Delayed erup... OMIM:112350
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Glossoptosis, Epiphyseal stippling OMIM:614876
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Distal Deletion 17Q
Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal hip bone morphology, Aplasia/... ORPHA:1597
Muenke Syndrome