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

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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 Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

Anti-nuclear antibody assay

Images

4 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
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Low-set ears, Median cleft palate, Talipes equinovarus, Bilateral talipes equinovarus, Popliteal ... OMIM:119800
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Abnormality of the humerus, Brachyda... 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, Multiple enchondromatosis, Broad femoral neck, Arthralgia of the hip OMIM:191520
Upington Disease
Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia of the hip, Broad fem... ORPHA:3408
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... OMIM:147891
Metachondromatosis
Abnormal metaphysis morphology, Multiple enchondromatosis, Abnormal epiphysis morphology ORPHA:2499
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Postaxial Tetramelic Oligodactyly
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly ORPHA:2730
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... OMIM:613005
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand OMIM:612576
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Multiple Epiphyseal Dysplasia With Robin Phenotype
Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Talipes equin... OMIM:601560
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Chromosome 17Q23.1-Q23.2 Duplication Syndrome
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia OMIM:613618
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... ORPHA:93316
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle ... OMIM:208100
Meier-Gorlin Syndrome 5
Microtia, Micrognathia, Prominent metopic ridge, Long philtrum, Hypoplasia of the capital femoral... OMIM:613805
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Broad femoral neck, Short femoral neck, Genu varum, Irregular patellae, Pat... OMIM:609325
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Rapadilino Syndrome
High palate, Joint dislocation, High, narrow palate, Cleft palate, Absent thumb, Aplasia/Hypoplas... OMIM:266280
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... ORPHA:3104
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5... ORPHA:1972
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Talipes equinovarus, Peroneal muscle atrophy, Shoulder girdle muscle a... OMIM:181400
Dermochondrocorneal Dystrophy
Abnormality of the hand, Large hands, Corneal dystrophy ORPHA:79149
Femoral-Facial Syndrome
Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft... ORPHA:1988
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Sensorineural hearing impairment, Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral ... ORPHA:440354
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Hand oligodactyly OMIM:172880
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... OMIM:258860
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Broad fe... OMIM:609324
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Meier-Gorlin Syndrome 4
Narrow mouth, Genu recurvatum, Microtia, Micrognathia, Slender long bone, Patellar aplasia, Hypop... OMIM:613804
Neuropathy, Hereditary Motor, With Myopathic Features
Distal upper limb muscle weakness, Talipes equinovarus, Flexion contracture, Proximal muscle weak... OMIM:619216
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydactyly, Rhizom... ORPHA:1453
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Cleft palate, Glossoptosis, M... ORPHA:1388
Fryns-Smeets-Thiry Syndrome
Wide mouth, Everted lower lip vermilion, Arachnodactyly, Micrognathia, Short philtrum, Downturned... ORPHA:2058
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip OMIM:300484
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder morphology, Abnormal pa... ORPHA:1277
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... ORPHA:1146
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... OMIM:611702
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Microgna... OMIM:201170
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly OMIM:614416
Metachondromatosis
Multiple enchondromatosis, Bowing of the long bones OMIM:156250
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... OMIM:142669
Arthrogryposis, Distal, Type 1B
Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Distal arthrogryposis, Arthrog... OMIM:614335
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Sensorineural hearing impairment, Clinodactyly of the 5th finger,... ORPHA:3320
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Winchester Syndrome
Broad metacarpals, Kyphosis, Hirsutism, Corneal opacity, Carpal osteolysis, Arthropathy, Osteolys... OMIM:277950
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still... ORPHA:294975
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... OMIM:119100
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Conductive hearing impairment, Partial duplication of the distal phalanx of the hallux, Bifid uvu... ORPHA:2669
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... OMIM:268305
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Genitopatellar Syndrome
Low-set ears, Talipes equinovarus, Micrognathia, Hypoplastic ilia, Long philtrum, Delayed eruptio... ORPHA:85201
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Camptodactyly Syndrome, Guadalajara, Type Ii
Low-set ears, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Long philtrum, Brachyda... OMIM:211920
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Brachydactyly, Short middle phalan... OMIM:615072
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... OMIM:211369
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Absent glenoid fossa, Microdontia, Genu valgum, Hypoplasia of the maxi... OMIM:224690
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... OMIM:227270
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... OMIM:613073
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Tetrasomy X
Clinodactyly of the 5th finger, Abnormality of the dentition, Brachydactyly, Radioulnar synostosi... ORPHA:9
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Delayed puberty OMIM:233270
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Overfolded helix, Camptodactyl... ORPHA:2631
Hypochondroplasia
Aplasia/hypoplasia of the extremities, Malar flattening, Flared metaphysis, Brachydactyly, Genu v... OMIM:146000
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Bilateral conductive hearing impairment, Short hallux, Oligodontia of pri... OMIM:216300
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Nail-Patella Syndrome
Cleft upper lip, Hypoplasia of first ribs, Antecubital pterygium, Clinodactyly of the 5th finger,... OMIM:161200
Congenital Patella Dislocation
Genu valgum, Knee flexion contracture, Limited knee extension, Patellar dislocation, Aplasia/Hypo... ORPHA:295036
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Scholte Syndrome
Everted lower lip vermilion, Small hand, Acromicria, Short foot, Patellar hypoplasia OMIM:300977
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... OMIM:185900
Arthrogryposis, Distal, Type 2B2
Short toe, Narrow mouth, Talipes equinovarus, Adducted thumb, Talipes equinovalgus, Overlapping f... OMIM:618435
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Micrognathia, Patellar hypoplasia, Protruding ear, Macrotia OMIM:251240
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Mosaic Trisomy 8
High palate, Abnormal antihelix morphology, Abnormal pinna morphology, Clinodactyly of the 5th fi... ORPHA:96061
Moderate Multiminicore Disease With Hand Involvement
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Talipes equinovarus, Knee dislo... ORPHA:178145
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Recombinant 8 Syndrome
Cleft upper lip, Gingival overgrowth, Clinodactyly of the 5th finger, Deep plantar creases, Cleft... ORPHA:96167
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Accessory oral frenulum, Hypoplasia of proximal radius, Prea... ORPHA:2756
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Radioulnar synostosis, Synophrys, Abnor... ORPHA:3268
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Low-set ears, Median cleft palate, Talipes equinovarus, Bilateral talipes equinovarus, Popliteal ... OMIM:119800
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... ORPHA:52056
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... ORPHA:1802
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Camptodactyly Syndrome, Guadalajara Type 2
Talipes equinovarus, Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia... ORPHA:1326
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Pelviscapular Dysplasia
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Short femur, Stenosis of the e... ORPHA:93333
Multiple Pterygium Syndrome, Escobar Variant
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Ulnar deviation of finger, R... OMIM:265000
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... OMIM:617719
Aase-Smith Syndrome
Abnormal pinna morphology, Talipes equinovarus, Slender finger, Cleft palate, Abnormal hip bone m... ORPHA:916
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... OMIM:256200
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Clubbing, Multinuclea... OMIM:108720
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Abnormality of the dentition, Genu varum, Short lower limbs, Carious teeth... ORPHA:2501
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Ear-Patella-Short Stature Syndrome
Cleft palate, Craniosynostosis, Anotia, Abnormal epiphysis morphology, Hypoplasia of the maxilla,... ORPHA:2554
Meier-Gorlin Syndrome 2
Narrow mouth, Abnormal pinna morphology, Microtia, Micrognathia, Slender long bone, Camptodactyly... OMIM:613800
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Roberts Syndrome
High palate, Cleft palate, Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper l... ORPHA:3103
Meier-Gorlin Syndrome 3
Coxa vara, Narrow mouth, Low-set ears, Talipes equinovarus, Microretrognathia, Short ribs, Microt... OMIM:613803
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Hypoplasia of the ul... OMIM:612447
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Short femoral neck, Genu varum, Hypoplasia of the odontoid p... OMIM:184255
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Nail-Patella Syndrome
Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... ORPHA:2614
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Upper limb amyotrophy, Talipes equinovarus, Lower limb muscle weakness, Distal lower limb amyotrophy ORPHA:99940
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Tooth agenesis, Irregular epiphyses, Flattened epiphysis, Genu varum, Osteo... OMIM:600204
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Conductive hearing impairment, Aplasia/Hypoplasia of the mid... OMIM:185800
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Bilateral conductive hearing impairme... OMIM:186500
Blount Disease
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... OMIM:274000
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Talipes equinovarus, Nonprogressive muscular atrophy, Spinal muscular atrophy, D... OMIM:600175
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Talipes equinovarus, Cleft palate, Bifid humerus, Malar flatte... OMIM:256050
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent ... OMIM:251255
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Abnormality of the h... ORPHA:1350
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... OMIM:605274
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... ORPHA:56304
Meier-Gorlin Syndrome 6
Conductive hearing impairment, Microretrognathia, Cleft palate, Microtia, Stenosis of the externa... OMIM:616835
Cerebrooculofacioskeletal Syndrome 3
Talipes equinovarus, Cleft palate, Micrognathia, Rocker bottom foot, Low-set ears OMIM:616570
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... OMIM:614078
Bowen-Conradi Syndrome
Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Oral cleft, Death in infan... ORPHA:1270
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... ORPHA:1406
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Disorganization, Mouse, Homolog Of
Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Limb duplication, Hand polydacty... OMIM:223200
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Contracture of the proximal ... OMIM:260150
Arthrogryposis, Distal, Type 1C
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... OMIM:619110
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Legg-Calvé-Perthes Disease
Abnormality of the dentition, Cartilage destruction, Joint dislocation ORPHA:2380
Brachydactyly Type A4
Talipes equinovarus, Shortening of all middle phalanges of the toes, Short middle phalanx of the ... ORPHA:93394
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Malar flattening, Abnormality of the dentition, Shor... ORPHA:217340
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Spastic Paraplegia 33, Autosomal Dominant
Ankle clonus, Talipes equinovarus, Lower limb muscle weakness OMIM:610244
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Low-s... ORPHA:2725
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Micrognathia, Death in infancy, Epiphyseal stippling OMIM:614882
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, ... ORPHA:949
Split-Foot Deformity With Mandibulofacial Dysostosis
Abnormality of the ear, Cleft palate, Split foot, Malar flattening, Micrognathia, Split hand, Toe... OMIM:183700
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Cleft palate, Micrognathia, Microglossia, Aplasia/Hypoplasia o... ORPHA:141152
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Orofaciodigital Syndrome Vi
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... OMIM:277170
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Short femur, Amelia, Bilateral cleft lip and palate, Low-set ears, Foot oligodac... OMIM:601357
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe OMIM:176305
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Sensorineural hearing impairment, Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Ost... ORPHA:166100
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication
Hip dysplasia, Talipes equinovarus ORPHA:238578
Brachydactyly-Preaxial Hallux Varus Syndrome
Micrognathia, Radial club hand, Brachydactyly, Broad thumb, Abnormal palate morphology, Short met... ORPHA:1278
Kyphomelic Dysplasia
Cleft upper lip, Low-set ears, Tibial bowing, Radial bowing, Talipes equinovarus, Cleft palate, S... OMIM:211350
Stapes Ankylosis With Broad Thumbs And Toes
Short distal phalanx of finger, Stapes ankylosis, Conductive hearing impairment, Congenital stape... OMIM:184460
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis OMIM:620009
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... ORPHA:163665
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb ORPHA:1471
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Arthrogryposis, Distal, Type 7
Talipes equinovarus, Micrognathia, Cutaneous syndactyly of toes, Hammertoe, Deep philtrum, Metata... OMIM:158300
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Micrognathia, Short 5th fi... OMIM:618608
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynostosis, Micrognat... OMIM:251230
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:261800
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Macrodontia, Sandal gap, Hypoplasia of the maxilla, Bowing of the long... ORPHA:1106
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Advanced ossification of carpal bones, Tooth agenesis, Microretrognathia, Knee dislo... OMIM:618363
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Ventriculomegaly And Arthrogryposis
Ulnar deviation of the wrist, Talipes equinovarus, Hand clenching, Arthrogryposis multiplex conge... OMIM:619501
Bowen-Conradi Syndrome
Micrognathia, Abnormal joint morphology, Clinodactyly of the 5th finger, Rocker bottom foot OMIM:211180
Orofaciodigital Syndrome Type 2
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... ORPHA:2751
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Bilatera... ORPHA:3237
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion border, Brachydactyly, Low-set, post... ORPHA:2370
Multiple Synostoses Syndrome 3
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... OMIM:612961
Patella Aplasia-Hypoplasia
Patellar hypoplasia, Patellar aplasia OMIM:168860
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Talipes ORPHA:1149
Spondyloepiphyseal Dysplasia Congenita
Cleft palate, Dysplasia of the femoral head, Glossoptosis, Short femur, Micrognathia, Aplasia/hyp... ORPHA:94068
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
High palate, Abnormal antihelix morphology, Short toe, 2-3 toe syndactyly, Protruding ear, Everte... ORPHA:3041
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Abnormality of the dentition, Brachydactyly,... ORPHA:1858
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
Hammertoe, Hip dislocation, Hip dysplasia, Knee dislocation ORPHA:370943
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Cryptorchidism, Micrognathia, Camptodactyly of finger,... ORPHA:2863
Lethal Kniest-Like Dysplasia
Low-set ears, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal... ORPHA:2347
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... OMIM:132400
Orofaciodigital Syndrome Ix
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Short tibia, Ca... OMIM:258865
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Stapes ankylosis, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 to... OMIM:614701
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Gingival overgrowth, Abnormality of the endocrine system, Cryptorchidism, Short fourth metatarsal... ORPHA:464288
Emery-Nelson Syndrome
High palate, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Long ... ORPHA:1927
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... ORPHA:79113
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Brachydactyly, Combined B And E Types
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... OMIM:112440
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Abnormality of the epiphyses of the feet, Abnormality of the... ORPHA:166002
Periventricular Nodular Heterotopia 7
Micrognathia, Hearing impairment, 2-3 toe syndactyly, Cleft palate OMIM:617201
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Pes planu... ORPHA:521308
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Digital Extensor Muscle Aplasia-Polyneuropathy
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a... ORPHA:2926
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Bilateral single transverse palmar creases, Abnormality of the ankles, Cuboidal me... ORPHA:968
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Kniest Dysplasia
Enlarged joints, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Conductive hearing im... OMIM:156550
2q37 monosomy
Thin upper lip vermilion, Brachydactyly DECIPHER:44
Rothmund-Thomson Syndrome Type 2
High palate, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Delayed eruption ... ORPHA:221016
Auriculocondylar Syndrome 3
Glossoptosis, Micrognathia, Stenosis of the external auditory canal, Retrognathia, Bilateral cond... OMIM:615706
Pallister-Hall-Like Syndrome
Cleft palate, Hypothalamic hamartoma, Short ribs, Micrognathia, Micromelia, Anterior hypopituitar... OMIM:241800
Atelosteogenesis Type I
Malrotation of colon, Talipes equinovarus, Joint dislocation, Cleft palate, Short femur, Abnormal... ORPHA:1190
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Coxa valga OMIM:271620
Rhizomelic Syndrome, Urbach Type
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Micrognathi... ORPHA:3098
Phenobarbital Embryopathy
Malar flattening, Brachydactyly, Unilateral cleft lip, Mandibular prognathia, Aplasia/Hypoplasia ... ORPHA:1919
Tetralogy Of Fallot
Thin vermilion border, Cryptorchidism, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Penoscrotal Transposition
Bilateral single transverse palmar creases, Micrognathia, Clinodactyly of the 5th finger, Patella... ORPHA:2842
17Q23.1Q23.2 Microdeletion Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Protruding ear, Malar flattening, Shallow acetabula... ORPHA:261279
Carpenter Syndrome
Kyphoscoliosis, Abnormal cornea morphology, Talipes equinovarus, Craniosynostosis, Brachydactyly,... ORPHA:65759
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... ORPHA:2496
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... ORPHA:93307
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Wide mouth, Gingival overgrowth, Clinodactyly of the 5th finger, Micrognathia, Short philtrum, Br... OMIM:618381
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness... ORPHA:90103
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnorm... ORPHA:1837
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteova... OMIM:614257
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Craniosynostosis, Hypoplasia of the radius, Overfolded helix, Hypoplasia of the ulna... OMIM:609945
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Ge... ORPHA:166024
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... OMIM:601668
Diastrophic Dysplasia
Hypertrophic auricular cartilage, Talipes equinovarus, Cleft palate, Costal cartilage calcificati... OMIM:222600
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Flared femoral metaphysis, Sandal gap, Abnormal joint morphology, ... ORPHA:1427
Branchiogenic-Deafness Syndrome
Short distal phalanx of finger, Sensorineural hearing impairment, Abnormality of the middle ear o... OMIM:609166
9Q33.3Q34.11 Microdeletion Syndrome
Low-set ears, Narrow mouth, Fixed elbow flexion, Talipes equinovarus, Abnormal pinna morphology, ... ORPHA:495818
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Auriculoosteodysplasia
Dislocated radial head, Hip dysplasia OMIM:109000
Mucopolysaccharidosis, Type Ix
Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... OMIM:601492
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Cataract, Abnormal vertebral morphology, A... ORPHA:64754
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Conductive hearing impairment, Clinodactyly of the 5th finger,... ORPHA:3236
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Brachydactyly, Type E2
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal OMIM:613382
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Malar flattening, Camptodact... OMIM:300244
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Coxa vara, Finger joint hypermobility, Avascular necrosis of the... ORPHA:93308
Arthrogryposis, Distal, Type 1A
Overlapping toe, Narrow mouth, Talipes equinovarus, Cryptorchidism, Joint contracture of the hand... OMIM:108120
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cleft palate, Malar flattening, Small hand, Abnormal hand morphology, Short foot OMIM:300261
Isolated Pierre Robin Syndrome
Glossoptosis, Micrognathia, Cleft palate ORPHA:718
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... OMIM:614669
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Wide anterior fontanel, Abnormal pinna morphology, Cleft palate, Narrow greater sci... OMIM:617925
Intellectual Developmental Disorder, Autosomal Recessive 74
Mandibular prognathia, Narrow palate, Brachydactyly OMIM:617169
Stuve-Wiedemann Syndrome 1
Enlarged joints, Pursed lips, Femoral bowing, Carious teeth, Ulnar deviation of finger, Contractu... OMIM:601559
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... ORPHA:3201
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... ORPHA:429
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Rothmund-Thomson Syndrome Type 1
Tooth agenesis, Short metacarpal, Metaphyseal sclerosis, Abnormality of the dentition, Plantar hy... ORPHA:221008
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Li-Campeau Syndrome
Low-set ears, Patellar hypoplasia, Long philtrum OMIM:619189
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... ORPHA:93430
Summitt Syndrome
Syndactyly, Craniosynostosis OMIM:272350
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... OMIM:311300
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Cleft palate, Microtia, Micrognathia, Limb undergrowth, Abnormal... ORPHA:3429
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Kyphosis, Brachydactyly, Scoliosis, Abnormal form of the vertebral b... ORPHA:40
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Feingold Syndrome Type 2
Brachydactyly, Short middle phalanx of finger, Jejunal atresia, Short thumb, Toe syndactyly ORPHA:391646
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Short Rib-Polydactyly Syndrome
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Aceta... ORPHA:1505
Weyers Acrofacial Dysostosis
Clinodactyly of the 5th finger, Brachydactyly, Postaxial hand polydactyly, Conical tooth, Solitar... OMIM:193530
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, Long eyelashes, 2-4 finger syndactyly, 2-3 toe syndactyly OMIM:227210
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Short ribs, Hyp... OMIM:607143
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Large fleshy ears, Cleft palate, Short femur, Short ribs, Micrognathi... OMIM:616897
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Talipes equinovarus, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue... OMIM:616827
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Temple Syndrome
High palate, Cleft palate, Small hand, Micrognathia, Short philtrum, Bifid uvula, Clinodactyly, S... OMIM:616222
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Split foot OMIM:183800
20Q11.2 Microdeletion Syndrome
Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly, Talipes calcan... ORPHA:444051
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Sprengel Deformity
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature ORPHA:3181
Achondroplasia
Bowing of the legs, Malar flattening, Flared metaphysis, Trident hand, Brachydactyly, Short femor... OMIM:100800
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Cryptorchidis... ORPHA:376
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Tibial bowing, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Nar... OMIM:608940
Stickler Syndrome, Type Ii
Sensorineural hearing impairment, High, narrow palate, Cleft palate, Malar flattening, Arachnodac... OMIM:604841
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Brachydactyly-Distal Symphalangism Syndrome
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Aplasia of the ... OMIM:113450
Craniosynostosis 3
Dental malocclusion, Brachydactyly, Single transverse palmar crease, Sagittal craniosynostosis, H... OMIM:615314
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, He... OMIM:604864
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of finger, Large iliac wing, Malar flattening, Delayed cranial suture closure, Cone-s... ORPHA:2511
Arthrogryposis, Distal, Type 11
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... OMIM:620019
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Wide mouth, Micrognathia, Short philtrum, Metaphyseal cupping of metacarpals, Abnormality of the ... ORPHA:163966
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Tombstone... OMIM:108721
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Triphalangeal Thumbs With Brachyectrodactyly
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand OMIM:190680
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Cleft palate, Genu valgum, Decreased testicular size, Cryptorchidism OMIM:614880
Thanatophoric Dysplasia Type 1
Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, Brachydactyly,... ORPHA:1860
Metaphyseal Chondrodysplasia, Kaitila Type
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... OMIM:250230
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Charcot-Marie-Tooth Disease, Type 4H
Talipes equinovarus, Small thenar eminence, Pes cavus, Small hypothenar eminence, Distal lower li... OMIM:609311
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... OMIM:605282
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hy... ORPHA:1307
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Ivic Syndrome
Anal atresia, Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement,... OMIM:147750
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... ORPHA:971
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Developmental Dysplasia Of The Hip 2
Coxa valga, Hip dysplasia OMIM:615612
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Talipes equinovarus, Joint contracture of the hand, Spinal muscular atrophy, Distal amyotrophy, S... OMIM:611067
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Cleft upper lip, Abnormality of the tongue, Malar flattening, Intestinal malrotation, Partial dup... OMIM:601165
Arthrogryposis, Distal, Type 2B1
High palate, Narrow mouth, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Long philt... OMIM:601680
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Brachydactyly, Triphalangeal thumb, Conical tooth, Bilateral triphalangeal thumbs, Absent middle ... OMIM:124480
Mohr Syndrome
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... OMIM:252100
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Furrowed tongue, A... ORPHA:2928
Acromicric Dysplasia
Abnormality of femur morphology, Narrow mouth, Fifth metacarpal with ulnar notch, Small hand, Lon... ORPHA:969
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... OMIM:601957
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Posterior helix pit, Narrow palate, Intestinal malrotation, Mic... OMIM:613684
Cenani-Lenz Syndrome
Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb, Radioulnar synosto... ORPHA:3258
Craniosynostosis And Dental Anomalies
High palate, Delayed eruption of teeth, Broad hallux, Sagittal craniosynostosis, Hypoplasia of th... OMIM:614188
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:253310
Zimmermann-Laband Syndrome 3
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... OMIM:618658
Aminopterin Syndrome Sine Aminopterin
High palate, Joint contracture of the hand, Cleft palate, Arachnodactyly, Micrognathia, Oligodont... OMIM:600325
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, Long philtrum, Ul... OMIM:277720
Distal Myopathy, Tateyama Type
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... ORPHA:488650
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Atelosteogenesis Type Iii
High palate, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia,... ORPHA:56305
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Paget Disease Of Bone 2, Early-Onset
Premature loss of teeth, Short femur, Femoral bowing, Fractures of the long bones, Bilateral cond... OMIM:602080
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal ossification involving the ... ORPHA:2114
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... ORPHA:370010
Fetal Akinesia Deformation Sequence 4
High palate, Retrognathia, Micrognathia, Camptodactyly, Rocker bottom foot, Low-set ears, Posteri... OMIM:618393
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Macroglossia, Hypoplasia of... OMIM:617396
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... OMIM:184250
Keipert Syndrome
Thick upper lip vermilion, Broad distal phalanx of finger, Brachydactyly, Downturned corners of m... OMIM:301026
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism, Cryptorchidism OMIM:615982
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Talipes equinovarus OMIM:615683
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse scalp hair, Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, C... OMIM:225280
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior segment d... OMIM:610023
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Microgna... ORPHA:576283
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... OMIM:250215
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Dislocated radial head, Talipes equinovarus, Long upper lip, Cleft palate, Micrognat... ORPHA:93359
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal palate morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic... ORPHA:1506
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... OMIM:609441
Abruzzo-Erickson Syndrome
Short toe, Cleft palate, Malar flattening, Brachydactyly, Radioulnar synostosis, Ulnar deviation ... ORPHA:921
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Phalangeal ... OMIM:251450
Oculoauriculovertebral Spectrum With Radial Defects
Ectopic anus, Wide mouth, Sensorineural hearing impairment, Conductive hearing impairment, Abnorm... ORPHA:2549
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Talipes equinovarus, Lower limb amyotrophy, Knee flexion contracture, Upper limb amyotrophy, Prox... ORPHA:496689
Scapuloperoneal Spinal Muscular Atrophy
Scapular muscle atrophy, Peroneal muscle weakness, Torticollis, Amyoplasia, Talipes equinovarus, ... OMIM:181405
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Dentinogenesis imperfect... OMIM:184260
Baller-Gerold Syndrome
High palate, Anal atresia, Malabsorption, Narrow mouth, Conductive hearing impairment, Cleft pala... ORPHA:1225
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Death in infancy, Epiphyseal stippling OMIM:614876
Temtamy Syndrome
Short toe, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Genu varum, Pes planus, A... ORPHA:1777
Cranioectodermal Dysplasia
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... ORPHA:1515
Acrootoocular Syndrome
Dental malocclusion, Anodontia, Short toe, Supernumerary tooth, High, narrow palate, Decreased re... ORPHA:2980
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Coxa vara, Abnormality of the hand, Broad femoral neck, Short femoral nec... ORPHA:99642
Microphthalmia With Limb Anomalies
High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... OMIM:206920
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Narrow mouth, Adducted thumb, Thin vermilion border, Micrognathia, Low-set, posteriorly rotated e... ORPHA:1150
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Smith-Magenis Syndrome
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Brachydactyly, Oral... OMIM:182290
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochan... OMIM:156530
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Talipes equinovarus, Proximal muscle weakness in lower limbs, Pes cavus, Hyporef... OMIM:615290
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... OMIM:613091
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Brachydactyly, High, narrow palate OMIM:619692
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Short femoral neck, Flattened proximal radial epiphyse... OMIM:271530
Orofaciodigital Syndrome X
Hand oligodactyly, Cleft palate, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Prea... OMIM:165590
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Coxa vara, Metaphyseal spurs, Flat capital femoral epiphysis, Osteoarthri... ORPHA:166011
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Genu valgum, Partial fusio... OMIM:305620
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... OMIM:102370
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Sensorineural hearing impairment, Conductive hearing impairment, Narrow mouth, Clinodactyly of th... OMIM:300990
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, An... OMIM:601016
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Conductive Deafness-Malformed External Ear Syndrome
High palate, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impa... ORPHA:3216
Split-Foot Malformation With Mesoaxial Polydactyly