Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pitx1 MGI:107374

Gene Summary

Name:

paired-like homeodomain transcription factor 1

Synonyms:

Bft, Ptx1, P-OTX, Potx

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Pitx1^{em1(IMPC)Wtsi}	HOM	Early adult	0.00
abnormal autopod morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.08×10^-05
vertebral transformation	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	7.17×10^-05
abnormal tibia morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.71×10^-16
abnormal nail morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	8.67×10^-06
abnormal femur morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	6.01×10^-09
abnormal cornea morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.22×10^-08
abnormal joint morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.34×10^-13
abnormal digit morphology	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.39×10^-08
polysyndactyly	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	5.63×10^-08
fused phalanges	Pitx1^{em1(IMPC)Wtsi}	HET	Early adult	4.08×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

Eye Morphology

Images Slit Lamp

5 Images

View images

Legacy Phenotype Associated Images

Pitx1^{em1(IMPC)Wtsi}
HET, Female, WTSI

View all 65 images

Pitx1^{em1(IMPC)Wtsi}
foot digit 1, polydactyly, polysyndactyly, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
polysyndactyly, polydactyly, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
polydactyly, polysyndactyly, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
hindlimb, polysyndactyly, polydactyly, HET, Male, WTSI

Pitx1^{em1(IMPC)Wtsi}
polydactyly, polysyndactyly, HET, Male, WTSI

View all 18 images

Pitx1^{em1(IMPC)Wtsi}
abnormal cornea morphology, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
abnormal cornea morphology, HET, Male, WTSI

Pitx1^{em1(IMPC)Wtsi}
abnormal placement of pupils, HET, Female, WTSI

Pitx1^{em1(IMPC)Wtsi}
HOM, Male, WTSI

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.

Human diseases associated with Pitx1 (3 diseases)
Human diseases predicted to be associated with Pitx1 (2218 diseases)

The table below shows human diseases associated to Pitx1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Liebenberg Syndrome	2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta...	OMIM:186550
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Absent tibia, Stillbirth, Hypoplasia of the corpus callosum, Preaxial foot polydactyly, Median cl...	OMIM:119800
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t...	ORPHA:1275

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

Disease	Matching phenotypes	Source
Upington Disease	Arthralgia of the hip, Flattened femoral head, Broad femoral neck, Multiple enchondromatosis	OMIM:191520
Upington Disease	Premature epimetaphyseal fusion, Arthralgia of the hip, Flat capital femoral epiphysis, Broad fem...	ORPHA:3408
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe...	OMIM:147891
Metachondromatosis	Abnormality of the metaphysis, Abnormality of epiphysis morphology, Multiple enchondromatosis	ORPHA:2499
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma...	ORPHA:2779
Brachydactyly, Type C	Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd...	OMIM:113100
Metaphyseal Anadysplasia 2	Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity	OMIM:613073
Syndactyly Type 2	Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-...	ORPHA:93403
Brachydactyly-Syndactyly Syndrome	Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,...	OMIM:610713
Postaxial Tetramelic Oligodactyly	Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger	ORPHA:2730
Synpolydactyly 1	6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph...	OMIM:186000
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short finger, Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, ...	OMIM:259270
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication...	OMIM:174500
Santos Syndrome	Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a...	OMIM:613005
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin...	ORPHA:1891
Pierre Robin Sequence With Facial And Digital Anomalies	Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o...	OMIM:311895
Coxopodopatellar Syndrome	Hip dysplasia, Abnormality of the knee, Abnormality of epiphysis morphology, Aplasia/Hypoplasia o...	ORPHA:1509
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Rhizomelia, Short femur, Short humerus	OMIM:600121
Léri-Weill Dyschondrosteosis	Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc...	ORPHA:240
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla...	OMIM:228930
Syndactyly Type 1	Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly	ORPHA:93402
Multiple Epiphyseal Dysplasia, Lowry Type	Genu valgum, Elbow dislocation, Rhizomelia, Cleft palate, Flattened epiphysis, Micrognathia, Epip...	ORPHA:166016
Multiple Epiphyseal Dysplasia With Robin Phenotype	Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Micrognathia,...	OMIM:601560
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly	OMIM:612576
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Clinodactyly of ...	ORPHA:3104
Acrocephalopolysyndactyly Type Iv	Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi...	OMIM:201020
Chondrodysplasia, Grebe Type	Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop...	OMIM:200700
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger	OMIM:186100
Tibial Aplasia-Ectrodactyly Syndrome	Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo...	ORPHA:3329
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Acrocapitofemoral Dysplasia	Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C...	OMIM:607778
Syndactyly, Type Iv	6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b...	OMIM:186200
Chromosome 17Q23.1-Q23.2 Duplication Syndrome	Hip dysplasia, Genu valgum, Acetabular dysplasia, Talipes equinovarus, Coxa valga	OMIM:613618
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux	OMIM:234280
Arthrogryposis Multiplex Congenita 2, Neurogenic Type	Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle atrophy, Talipes equi...	OMIM:208100
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Symphalangism With Multiple Anomalies Of Hands And Feet	Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T...	OMIM:185750
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck, Epiphyseal dysplasia, Br...	OMIM:609325
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Rapadilino Syndrome	Stiff interphalangeal joints, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella...	OMIM:266280
Fryns-Smeets-Thiry Syndrome	Short philtrum, Downturned corners of mouth, Micrognathia, Everted lower lip vermilion, Wide mout...	ORPHA:2058
Femoral-Facial Syndrome	Hip dysplasia, Long philtrum, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Oral...	ORPHA:1988
Fibular Hemimelia	Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,...	ORPHA:93323
Lethal Faciocardiomelic Dysplasia	Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Hypoplasia of the ul...	ORPHA:1972
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Short femur, Micrognathia, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Sensorine...	ORPHA:440354
Meier-Gorlin Syndrome 5	Long philtrum, Small earlobe, Elbow dislocation, Prominent metopic ridge, Hypoplasia of the maxil...	OMIM:613805
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Flared fem...	OMIM:609324
Syndactyly Type 4	6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ...	ORPHA:93405
Congenital Radioulnar Synostosis	Dislocated radial head, Abnormal morphology of the radius, Congenital hip dislocation, Radioulnar...	ORPHA:3269
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence...	ORPHA:3246
Meier-Gorlin Syndrome 4	Narrow mouth, Micrognathia, Genu recurvatum, Slender long bone, Low-set ears, Patellar aplasia, T...	OMIM:613804
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo...	OMIM:118651
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Shoulder girdle muscle atrophy, Talipes equinovarus, Peroneal muscle atrophy, Foot dorsiflexor we...	OMIM:181400
Arthrogryposis, Distal, Type 1B	Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Contractures involving the...	OMIM:614335
Dermochondrocorneal Dystrophy	Abnormality of the hand, Large hands, Corneal dystrophy	ORPHA:79149
Neuropathy, Hereditary Motor, With Myopathic Features	EMG: myopathic abnormalities, Scapular winging, Distal upper limb muscle weakness, Flexion contra...	OMIM:619216
Orofaciodigital Syndrome Iv	Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po...	OMIM:258860
Acrofacial Dysostosis Syndrome Of Rodriguez	Oligodactyly, Talipes equinovarus, Short philtrum, Narrow mouth, Wide anterior fontanel, Overlapp...	OMIM:201170
Cleidorhizomelic Syndrome	Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C...	ORPHA:1453
Catel-Manzke Syndrome	Camptodactyly of finger, Abnormality of epiphysis morphology, Micrognathia, Low-set, posteriorly ...	ORPHA:1388
Pierre Robin Syndrome And Oligodactyly	Micrognathia, Hand oligodactyly	OMIM:172880
Syndactyly Type 5	Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ...	ORPHA:93406
Microcephaly, Short Stature, And Limb Abnormalities	Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Short metacar...	OMIM:617604
Split-Hand/Foot Malformation 6	Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly	OMIM:225300
Syndactyly Type 3	Camptodactyly of finger, Short toe, Finger syndactyly	ORPHA:93404
Laurin-Sandrow Syndrome	Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel...	OMIM:135750
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal shoulder morphology, Micrognathia...	ORPHA:1277
Orofaciodigital Syndrome Viii	Polydactyly, Syndactyly, Cleft palate, High palate, Short tibia, Median cleft lip	OMIM:300484
Leri-Weill Dyschondrosteosis	Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal...	OMIM:127300
Distal Arthrogryposis Type 1	Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Talipes, Abnormal hip bone morp...	ORPHA:1146
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Absent tibia, Split hand, Cupped ear, Hand monodactyly, Split foot, Patellar aplasi...	OMIM:119100
Mental Retardation, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Metachondromatosis	Bowing of the long bones, Multiple enchondromatosis	OMIM:156250
Beukes Hip Dysplasia	Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Fl...	OMIM:142669
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy...	OMIM:112700
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Broad thumb, Finger syndactyly, Micrognathia, Low-set, posteriorly rotated ears,...	ORPHA:3320
Tetrasomy X	Hip dysplasia, Radioulnar synostosis, Abnormality of the dentition, Clinodactyly of the 5th finge...	ORPHA:9
Spondylometaphyseal Dysplasia, East African Type	Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M...	OMIM:611702
Robin Sequence With Cleft Mandible And Limb Anomalies	Hip subluxation, Narrow mouth, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dys...	OMIM:268305
Brachydactyly, Type A1	Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima...	OMIM:112500
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ...	ORPHA:1986
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Microce...	OMIM:211369
Liebenberg Syndrome	2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta...	OMIM:186550
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f...	OMIM:156500
Hypochondroplasia	Limited elbow extension, Aplasia/hypoplasia of the extremities, Malar flattening, Short long bone...	OMIM:146000
Thiemann Disease, Familial Form	Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology	ORPHA:3314
Acromesomelic Dysplasia, Hunter-Thompson Type	Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop...	OMIM:201250
Camptosynpolydactyly, Complex	Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly	OMIM:607539
Gombo Syndrome	Radial deviation of finger, Clinodactyly, Delayed puberty, Microcephaly, Brachydactyly	OMIM:233270
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat...	ORPHA:988
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Pes planus, Large hands, Long toe, Cleft lip, Cleft palate	OMIM:300263
Congenital Absence Of Upper Arm And Forearm With Hand Present	Stillbirth, Upper limb phocomelia, Polydactyly, Syndactyly, Abnormal hip bone morphology, Cleft p...	ORPHA:294975
Symbrachydactyly Of Hands And Feet	Scoliosis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the ...	ORPHA:1570
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab...	OMIM:246570
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Metaphyseal irregularity, Delayed ossification of carpal bones, Irregular epiphyses,...	OMIM:607078
Epiphyseal Dysplasia, Multiple, 4	Hip dysplasia, Hypoplasia of the femoral head, Epiphyseal dysplasia, Limited elbow flexion, Doubl...	OMIM:226900
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormal thumb morphology, Conductive hearing impairment, Partial duplication of the distal phala...	ORPHA:2669
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Metaphyseal dysplasia, Short long b...	OMIM:250460
Camptodactyly Syndrome, Guadalajara, Type Ii	Long philtrum, Short 3rd toe, Camptodactyly of finger, Talipes equinovarus, Macrotia, Short middl...	OMIM:211920
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Digital Arthropathy-Brachydactyly, Familial	Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi...	OMIM:606835
Acromesomelic Dysplasia, Grebe Type	Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon...	ORPHA:2098
Faciocardiomelic Dysplasia, Lethal	Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ...	OMIM:227270
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly	ORPHA:71289
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Humeroradial synostosis, Arachnodactyly	OMIM:614416
Genitopatellar Syndrome	Long philtrum, Delayed eruption of teeth, Radioulnar synostosis, Hypoplastic ilia, Hypoplastic is...	ORPHA:85201
Brachydactyly, Type A1, C	Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi...	OMIM:615072
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Brachydactyly, Type A4	Talipes calcaneovalgus, Short middle phalanx of the 2nd finger, Type A brachydactyly, Congenital ...	OMIM:112800
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all...	ORPHA:85169
Split-Foot Malformation With Mesoaxial Polydactyly	Cutaneous syndactyly	OMIM:616890
Polydactyly, Postaxial, Type A1	Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb	OMIM:174200
Cleft Palate, Deafness, And Oligodontia	Short hallux, Sandal gap, Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia...	OMIM:216300
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Scoliosis, Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal...	OMIM:618167
Atelosteogenesis, Type I	Short metatarsal, Elbow dislocation, Multinucleated giant chondrocytes in epiphyseal cartilage, M...	OMIM:108720
Multiple Pterygium Syndrome, Escobar Variant	Narrow mouth, Downturned corners of mouth, Exostosis of the external auditory canal, Neck pterygi...	OMIM:265000
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna...	OMIM:601376
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Absent tibia, Stillbirth, Hypoplasia of the corpus callosum, Preaxial foot polydactyly, Median cl...	OMIM:119800
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli...	ORPHA:85170
Pelviscapular Dysplasia	Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast...	ORPHA:93333
Congenital Patella Dislocation	Genu valgum, Aplasia/Hypoplasia of the quadriceps, Limited knee extension, Knee flexion contractu...	ORPHA:295036
Nail-Patella Syndrome	Quadriceps aplasia, Limited elbow extension, Talipes equinovarus, Antecubital pterygium, Hypoplas...	OMIM:161200
Wahab Syndrome	Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum...	OMIM:615170
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ...	OMIM:183600
Orofaciodigital Syndrome Type 10	Prominent calcaneus, Long philtrum, Accessory oral frenulum, Oligodactyly, Tarsal synostosis, Mes...	ORPHA:2756
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Overfolded h...	ORPHA:2631
Scholte Syndrome	Acromicria, Everted lower lip vermilion, Small hand, Patellar hypoplasia, Short foot	OMIM:300977
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Short 5th toe, Patellar hypoplasia, Short 2nd toe, Talipe...	ORPHA:1326
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostos...	OMIM:185900
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Micrognathia, Protruding ear, Patellar hypoplasia, Macrotia	OMIM:251240
Epiphyseal Dysplasia, Multiple, 7	Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi...	OMIM:617719
Mosaic Trisomy 8	Camptodactyly of finger, Abnormality of the antihelix, Macrotia, Micrognathia, Deep plantar creas...	ORPHA:96061
Tetramelic Monodactyly	Split hand, Hand monodactyly, Foot monodactyly, Split foot	OMIM:187510
Mesomelic Limb Shortening And Bowing	Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia...	OMIM:249710
Moderate Multiminicore Disease With Hand Involvement	Intrinsic hand muscle atrophy, Hyporeflexia of upper limbs, Distal upper limb muscle weakness, Ty...	ORPHA:178145
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Polydactyly, Brachydactyly	OMIM:617405
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Recombinant 8 Syndrome	Camptodactyly of finger, Downturned corners of mouth, Micrognathia, Deep plantar creases, Chronic...	ORPHA:96167
Ear-Patella-Short Stature Syndrome	Anotia, Craniosynostosis, Narrow mouth, Elbow dislocation, Atresia of the external auditory canal...	ORPHA:2554
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph...	OMIM:112910
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Ghosal Hematodiaphyseal Dysplasia	Abnormality of tibia morphology, Bowing of the long bones, Abnormality of femur morphology, Abnor...	ORPHA:1802
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Toe syndactyly, Abnormal vertebral morphology, Synostosis of carpal b...	OMIM:102510
Arthrogryposis, Distal, Type 2B2	Overlapping fingers, Narrow mouth, Camptodactyly, Talipes equinovalgus, Adducted thumb, Sandal ga...	OMIM:618435
Eiken Syndrome	Cubitus valgus, Delayed epiphyseal ossification, Short phalanx of finger, Metaphyseal irregularit...	ORPHA:79106
Langer Mesomelic Dysplasia	Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th...	OMIM:249700
Postaxial Oligodactyly, Tetramelic	Radial bowing, Postaxial hand polydactyly, Lunate-triquetral fusion, Postaxial oligodactyly, Cone...	OMIM:176240
Multiple Synostoses Syndrome 1	Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs...	OMIM:186500
Skeletal Defects, Genital Hypoplasia, And Mental Retardation	Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia/Hypoplasia of t...	OMIM:612447
Nephrosis With Deafness And Urinary Tract And Digital Malformations	Partial duplication of the distal phalanx of the hallux, Hearing impairment, Short distal phalanx...	OMIM:256200
Pseudoachondroplasia	Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab...	ORPHA:750
Brachydactyly, Type D	Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux	OMIM:113200
Neu-Laxova Syndrome 2	Rocker bottom foot, Abnormality of the pinna, Low-set ears, Cleft palate, High palate, Micrognathia	OMIM:616038
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Edema...	OMIM:274000
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor...	ORPHA:93356
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Scoliosis, Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Synophrys, Thick e...	ORPHA:3268
Atelosteogenesis, Type Ii	Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate...	OMIM:256050
Aase-Smith Syndrome	Camptodactyly of finger, Abnormality of the pinna, Aplasia/Hypoplasia of the radius, Trismus, Abn...	ORPHA:916
Metaphyseal Chondrodysplasia, Spahr Type	Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ...	ORPHA:2501
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Short finger, Rhizomelia, Hypoplastic ilia, Hypodontia, Cer...	OMIM:607095
Stuve-Wiedemann Syndrome	Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Micrognathia, Femoral bo...	OMIM:601559
Ectrodactyly-Polydactyly Syndrome	Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t...	ORPHA:1892
Spondylometaphyseal Dysplasia, Corner Fracture Type	Metaphyseal irregularity, Coxa vara, Genu varum, Short femoral neck, Hypoplasia of the odontoid p...	OMIM:184255
Roberts Syndrome	Cryptorchidism, Craniosynostosis, Bilateral single transverse palmar creases, Sandal gap, Wrist f...	ORPHA:3103
Long-Thumb Brachydactyly Syndrome	Short finger, Long thumb, Brachydactyly	OMIM:112430
Symphalangism, Proximal, 1A	Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:185800
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir...	ORPHA:174
Neuronopathy, Distal Hereditary Motor, Type Viii	Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal lower limb amyotrophy, Pes ...	OMIM:600175
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality...	ORPHA:2768
Nail-Patella Syndrome	Enamel hypoplasia, Abnormality of tibia morphology, Pes planus, Abnormality of the elbow, Iliac h...	ORPHA:2614
Mesomelic Dysplasia, Savarirayan Type	Dislocated radial head, Delayed closure of the anterior fontanelle, Talipes equinovalgus, Mesomel...	OMIM:605274
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F	Talipes equinovarus, Distal lower limb amyotrophy, Upper limb amyotrophy, Lower limb muscle weakness	ORPHA:99940
Spondylometaphyseal Dysplasia, Type A4	Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteoporotic tarsals, B...	OMIM:609052
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, High palate, 2-3 toe syndactyly, Thick vermilion border, Hypodontia, Brachydacty...	OMIM:617061
Brachydactyly Type A7	Medially deviated second toe, Short hallux, Aplasia/Hypoplasia of the middle phalanges of the han...	ORPHA:93397
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Unilateral cleft lip, Microcephaly, Brachyd...	ORPHA:1919
Meier-Gorlin Syndrome 6	Hip dysplasia, Conductive hearing impairment, Short middle phalanx of finger, Microretrognathia, ...	OMIM:616835
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Proximal femoral metaphyseal irregularity, Sparse hair, Flared iliac wing, Rhizomelia, Flared fem...	OMIM:183849
Periventricular Nodular Heterotopia 7	Cryptorchidism, Hypoplasia of the corpus callosum, 2-3 toe syndactyly, Cortical dysplasia, Cleft ...	OMIM:617201
Penoscrotal Transposition	Bilateral single transverse palmar creases, Cerebral cortical atrophy, Clinodactyly of the 5th fi...	ORPHA:2842
Arthrogryposis, Distal, Type 1C	Pursed lips, Rocker bottom foot, Thin vermilion border, Shoulder flexion contracture, Camptodacty...	OMIM:619110
Bowen-Conradi Syndrome	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Death in infancy, Oral cleft, Clinodac...	ORPHA:1270
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Low-set ears, Cleft palate, Talipes equinovarus, Micrognathia	OMIM:616570
Heart-Hand Syndrome Type 2	Cryptorchidism, Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, ...	ORPHA:1350
Tibial Hemimelia	Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,...	ORPHA:93322
Legg-Calvé-Perthes Disease	Cartilage destruction, Joint dislocation, Abnormality of the dentition	ORPHA:2380
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment...	OMIM:128980
Disorganization, Mouse, Homolog Of	Limb duplication, Hand polydactyly, Sensorineural hearing impairment, Cleft upper lip, Cleft pala...	OMIM:223200
Atelosteogenesis Type Ii	Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars...	ORPHA:56304
Polydactyly, Postaxial, Type A8	Genu valgum, Postaxial polydactyly	OMIM:618123
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split hand, Split foot, Abnormality of the ear, Cleft palate, Micrognathia, Malar...	OMIM:183700
Chondrodysplasia With Joint Dislocations, Gpapp Type	Genu valgum, Narrow mouth, Short foot, Short metacarpal, Cleft palate, Short toe, Patellar disloc...	OMIM:614078
Brachydactyly Type A4	Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan...	ORPHA:93394
17Q21.31 Microduplication Syndrome	Short philtrum, Toe syndactyly, Micrognathia, Abnormality of the dentition, Abnormality of the ou...	ORPHA:217340
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Bilateral cleft lip and palate, Low-set ears, Amelia, Cleft upper...	OMIM:601357
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Hip dysplasia, Short philtrum, Hypoplasia of the corpus callosum, Deep philtrum, Smooth philtrum,...	OMIM:618381
Charlie M Syndrome	Triphalangeal thumb, Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Spli...	ORPHA:1406
Brachydactyly, Type A1, B	Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ...	OMIM:607004
Pycnodysostosis	Osteolytic defects of the distal phalanges of the hand, Wormian bones, Delayed eruption of primar...	OMIM:265800
Crossed Polysyndactyly	Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly	ORPHA:2935
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Irregular epiphyses, Intervertebral disk ...	OMIM:614135
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Syndactyly, Duplication of metatarsal bon...	OMIM:600384
Brachydactyly, Type A2	Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T...	OMIM:112600
Polydactyly, Preaxial Iv	Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol...	OMIM:174700
Polymicrogyria, Perisylvian, With Cerebellar Hypoplasia And Arthrogryposis	Overlapping fingers, Talipes equinovarus, Arthrogryposis multiplex congenita, Externally rotated ...	OMIM:616531
Winchester Syndrome	Osteolysis involving bones of the upper limbs, Corneal opacity, Osteolysis involving bones of the...	OMIM:277950
Peroxisome Biogenesis Disorder 10A (Zellweger)	Micrognathia, High palate, Epiphyseal stippling, Death in infancy	OMIM:614882
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Abnormal metacarpal morphology, Malar flattening, Sensorineural hearing impairment...	ORPHA:166100
Chromosome 2Q31.1 Duplication Syndrome	Cutaneous syndactyly, Talipes equinovarus	OMIM:613681
Orofaciodigital Syndrome Type 2	Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H...	ORPHA:2751
Acrocraniofacial Dysostosis	Craniosynostosis, Broad thumb, Flared iliac wing, Short distal phalanx of finger, Sensorineural h...	ORPHA:949
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Radioulnar synostosis, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Bowing of th...	ORPHA:2725
Spastic Paraplegia 33, Autosomal Dominant	Talipes equinovarus, Lower limb muscle weakness, Ankle clonus	OMIM:610244
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Cryptorchidism, Thin vermilion border, Long philtrum, Short fourth metatarsal, Pseudohypoparathyr...	ORPHA:464288
Microcephaly-Micromelia Syndrome	Oligodactyly, Humeroradial synostosis, Craniosynostosis, Narrow mouth, Low-set ears, Forearm unde...	OMIM:251230
Syndactyly, Type V	Camptodactyly of finger, 3-4 toe syndactyly, 4-5 toe syndactyly, Fused fourth and fifth metacarpa...	OMIM:186300
Palant Cleft Palate Syndrome	Exaggerated cupid's bow, Contracture of the proximal interphalangeal joint of the 5th finger, Con...	OMIM:260150
Bardet-Biedl Syndrome 7	Polydactyly	OMIM:615984
Rhizomelic Syndrome, Urbach Type	Abnormality of the tongue, Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyl...	ORPHA:3098
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb	OMIM:176305
Muscular Hypoplasia, Congenital Universal, Of Krabbe	Abnormal muscle fiber morphology, Hypoplasia of the musculature	OMIM:159100
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow disloc...	ORPHA:1106
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Short femur, Upper limb undergrowth, Aplasia/hypoplasia involving bones of the extre...	ORPHA:94068
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology,...	ORPHA:163665
Achondroplasia	Limited elbow extension, Trident hand, Rhizomelia, Megalencephaly, Bowing of the legs, Flared met...	OMIM:100800
Coloboma Of Macula-Brachydactyly Type B Syndrome	Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger	ORPHA:1471
Kyphomelic Dysplasia	Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Short metacarpa...	OMIM:211350
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, Camptodactyly of finger, Short foot, Hypodontia, Short distal phalanx of fi...	ORPHA:3201
Mucopolysaccharidosis, Type Ix	Periarticular soft-tissue mass, Chondrocalcinosis, Recurrent otitis media, Acetabular erosions, P...	OMIM:601492
Stapes Ankylosis With Broad Thumbs And Toes	Broad thumb, Toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Short distal phalan...	OMIM:184460
Epiphyseal Dysplasia, Multiple, 1	Genu valgum, Short phalanx of finger, Hip osteoarthritis, Ovoid vertebral bodies, Irregular epiph...	OMIM:132400
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Tooth malposition, Micrognathia, 2-3 toe syndactyly, Thin upper lip vermilion, Low-set ears, Hear...	OMIM:618608
Feingold Syndrome Type 2	Toe syndactyly, Short middle phalanx of finger, Jejunal atresia, Short thumb, Microcephaly, Brach...	ORPHA:391646
Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication	Hip dysplasia, Talipes equinovarus	ORPHA:238578
Robinow Syndrome, Autosomal Dominant 2	Long philtrum, Broad thumb, Dental crowding, Conductive hearing impairment, Abnormality of the de...	OMIM:616331
Arthrogryposis, Distal, Type 7	Cutaneous syndactyly of toes, Micrognathia, Deep philtrum, Trismus, Metatarsus adductus, Talipes ...	OMIM:158300
Split-Hand/Foot Malformation 4	Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange...	OMIM:605289
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Carious teeth, Genu valgum, Pierre-Robin sequence, Pes planus, Microretr...	OMIM:618363
Bowen-Conradi Syndrome	Micrognathia, Rocker bottom foot, Clinodactyly of the 5th finger, Abnormal joint morphology	OMIM:211180
Brachydactyly Type A2	Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy...	ORPHA:93396
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral ...	ORPHA:3237
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Hip dysplasia, Thin vermilion border, Narrow mouth, Low-set, posteriorly rotated ears, Abnormalit...	ORPHA:2370
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Abnormal palate morph...	ORPHA:1278
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy...	ORPHA:52056
Pierre Robin Syndrome	Pierre-Robin sequence, Micrognathia, Glossoptosis, Cleft palate	OMIM:261800
Orofaciodigital Syndrome Vi	Hypothalamic hamartoma, Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, T...	OMIM:277170
Orofaciodigital Syndrome Ix	Hand polydactyly, Toe syndactyly, Camptodactyly, Abnormality of the dentition, Cleft palate, High...	OMIM:258865
Multiple Synostoses Syndrome 3	Cutaneous syndactyly of toes, Humeroradial synostosis, Cubitus valgus, Broad thumb, Hallux varus,...	OMIM:612961
Patella Aplasia-Hypoplasia	Patellar hypoplasia, Patellar aplasia	OMIM:168860
Kuskokwim Syndrome	Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of the radius, Talipes	ORPHA:1149
Langer Mesomelic Dysplasia	Mesomelic/rhizomelic limb shortening, Abnormality of epiphysis morphology, Bowing of the long bon...	ORPHA:2632
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Thin vermilion border, Short philtrum, 4-5 toe syndactyly, Abnormality of the antihelix, Patellar...	ORPHA:3041
Short Stature-Wormian Bones-Dextrocardia Syndrome	Cryptorchidism, Delayed eruption of teeth, Camptodactyly of finger, Wormian bones, Abnormality of...	ORPHA:2863
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormality of the antihelix, Preaxial hand polydactyly, Large earlobe, Absent tragus, Overfolded...	ORPHA:79113
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hip dysplasia, Mandibular prognathia, Hypoplastic iliac wing, Abnormality of the dentition, Short...	ORPHA:1858
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Toe syndactyly, Aplasia/Hyp...	ORPHA:157801
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Lethal Kniest-Like Dysplasia	Abnormal cartilage matrix, Wide anterior fontanel, Abnormality of the ischium, Mesomelic/rhizomel...	ORPHA:2347
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brac...	OMIM:611263
Emery-Nelson Syndrome	Long philtrum, Camptodactyly of finger, Abnormal thumb morphology, Contractures of the interphala...	ORPHA:1927
Split-Hand/Foot Malformation 2	Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal	OMIM:313350
Diastrophic Dysplasia	Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I...	OMIM:222600
Rothmund-Thomson Syndrome Type 2	Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synost...	ORPHA:221016
Brachydactyly Type B	Finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Synostosis of carpal bones, Broad ha...	ORPHA:93383
Pallister-Hall-Like Syndrome	Hypothalamic hamartoma, Postaxial hand polydactyly, Death in infancy, Short ribs, Microglossia, C...	OMIM:241800
Orofaciodigital Syndrome Xviii	Genu valgum, Short philtrum, Short middle phalanx of finger, Diastema, Preaxial polydactyly, Post...	OMIM:617927
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped carpal bones, ...	ORPHA:968
Atelosteogenesis Type I	Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro...	ORPHA:1190
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal widening, Broad tibial metaphyses, Broad palm, Aplasia/Hypoplasia of metatarsal bones...	ORPHA:2502
Craniosynostosis, Philadelphia Type	Craniosynostosis, Finger syndactyly	ORPHA:1527
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of dental morphology, Abnormality of fibula morphology, Abnormality of the dentition,...	ORPHA:1837
Brachydactyly, Combined B And E Types	Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ...	OMIM:112440
Digital Extensor Muscle Aplasia-Polyneuropathy	Camptodactyly of finger, Muscular dystrophy, Aplasia/Hypoplasia involving the skeletal musculatur...	ORPHA:2926
Mesomelia-Synostoses Syndrome	Abnormality of tibia morphology, Narrow mouth, Abnormality of the metacarpal bones, High, narrow ...	ORPHA:2496
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Furrowed tongue, Ulnar deviation of finger, Abnormality of pelvic girdle...	ORPHA:2928
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5...	OMIM:601668
Otospondylomegaepiphyseal Dysplasia	Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Sensorineural hearing i...	ORPHA:1427
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Coxa valga	OMIM:271620
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Wide anterior fontanel, Abnormality of the pinna, Natal tooth, Hamartoma of tongue, Postaxial pol...	OMIM:617925
17Q23.1Q23.2 Microdeletion Syndrome	Coxa magna, Narrow mouth, Abnormality of epiphysis morphology, Pes planus, Chronic otitis media, ...	ORPHA:261279
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome	Hip dysplasia, Knee dislocation, Hip dislocation, Hammertoe	ORPHA:370943
Multiple Epiphyseal Dysplasia Type 4	Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Double-layered patella, Shor...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Limited elbow extension, Platyspondyly, Femoral bowing, Flared iliac wing, Ulnar b...	OMIM:602111
Auriculocondylar Syndrome 3	Question mark ear, Bilateral conductive hearing impairment, Stenosis of the external auditory can...	OMIM:615706
Temtamy Syndrome	Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Pes planus, Abnormal palate...	ORPHA:1777
Mohr Syndrome	Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palat...	OMIM:252100
Tetralogy Of Fallot	Cryptorchidism, Thin vermilion border, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the middle ear, Elbow dislocation, Condu...	ORPHA:3236
2q37 monosomy	Thin upper lip vermilion, Brachydactyly	DECIPHER:44
9Q33.3Q34.11 Microdeletion Syndrome	Esophagitis, Thin vermilion border, Tented philtrum, Narrow mouth, Abnormality of the pinna, Low-...	ORPHA:495818
Ulnar Hemimelia	Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Aplasia...	ORPHA:93320
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Mandibular prognathia, Abnorm...	ORPHA:2511
Bardet-Biedl Syndrome 22	Polydactyly	OMIM:617119
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Finger syndactyly, Atresia of the external auditory canal, Non-midline cleft l...	ORPHA:3429
Terminal Osseous Dysplasia	Mesomelic arm shortening, Camptodactyly of finger, Short toe, Abnormal hand bone ossification, Ab...	OMIM:300244
Brachydactyly Type B2	Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang...	ORPHA:140908
Arthrogryposis, Distal, Type 1A	Overlapping fingers, Cryptorchidism, Rocker bottom foot, Narrow mouth, Overlapping toe, Congenita...	OMIM:108120
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Type A brachydactyly, Abnormal thumb morphology, Abnormality of the metacarpal bones	ORPHA:1078
Branchiogenic-Deafness Syndrome	Abnormality of the middle ear ossicles, Branchial cyst, Branchial fistula, Atresia of the externa...	OMIM:609166
Rothmund-Thomson Syndrome Type 1	Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Metaph...	ORPHA:221008
Nevus Comedonicus Syndrome	Scoliosis, Toe syndactyly, Abnormal hair morphology, Abnormal vertebral morphology, Finger syndac...	ORPHA:64754
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Areflexia of lower limbs, Absent Achilles reflex, Intrinsic hand muscle atrophy, Distal upper lim...	ORPHA:90103
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar...	ORPHA:93409
Temtamy Preaxial Brachydactyly Syndrome	Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ...	ORPHA:363417
Du Pan Syndrome	Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib...	OMIM:228900
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger...	OMIM:609432
Epiphyseal Dysplasia, Baumann Type	Genu valgum, Hypoplasia of the femoral head, Metaphyseal irregularity, Pes planus, Narrow pelvis ...	OMIM:610797
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis...	ORPHA:63442
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Short metatarsal, Short metacarpal, Brachydactyly	OMIM:613382
Meier-Gorlin Syndrome 1	Absent glenoid fossa, Narrow mouth, Elbow dislocation, Camptodactyly, Atresia of the external aud...	OMIM:224690
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Schneckenbecken Dysplasia	Advanced tarsal ossification, Metaphyseal irregularity, Stillbirth, Hypoplastic scapulae, Dumbbel...	OMIM:269250
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of...	ORPHA:166002
Chromosome 20Q11-Q12 Deletion Syndrome	Short philtrum, Finger clinodactyly, Tarsal osteovalgus, Camptodactyly, Adducted thumb, Brachydac...	OMIM:614257
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Oligodactyly, Pes planus, Clinodactyly of the 3rd toe, Clinodactyly of the 5th finger, Abnormalit...	ORPHA:521308
Bardet-Biedl Syndrome 12	Polydactyly	OMIM:615989
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome	Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty...	ORPHA:3332
Hypochondroplasia	Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Abnormality of the el...	ORPHA:429
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat...	OMIM:144750
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty...	ORPHA:370010
Auriculocondylar Syndrome 2	Narrow mouth, Dental crowding, Micrognathia, Overfolding of the superior helices, Mandibular cond...	OMIM:614669
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur	OMIM:228250
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Abnormal hand morphology, Cleft palate, Small hand, Short foot, Malar flattening	OMIM:300261
Aminopterin Syndrome Sine Aminopterin	Cryptorchidism, Oligodontia, Megalencephaly, Brachydactyly, Rudimentary postaxial polydactyly of ...	OMIM:600325
Multiple Metaphyseal Dysplasia	Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol...	ORPHA:93430
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Pseudoachondroplasia	Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone...	OMIM:177170
Carpenter Syndrome	Genu valgum, Craniosynostosis, Broad thumb, Postaxial hand polydactyly, Toe syndactyly, Finger sy...	ORPHA:65759
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wormian bones, Short femur, Micrognathia, Limb undergrowth, Decreased fibular diameter, Unilatera...	OMIM:616897
Congenital Disorder Of Glycosylation, Type Ig	Short philtrum, Short femur, Hypoplasia of the radius, Rhizomelia, Abnormality of the pinna, Shor...	OMIM:607143
Nemaline Myopathy 11, Autosomal Recessive	Scapular winging, Nemaline bodies, Pes cavus, Facial palsy, Talipes equinovarus	OMIM:617336
Auriculoosteodysplasia	Hip dysplasia, Dislocated radial head	OMIM:109000
Brachydactyly Type C	Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata...	ORPHA:93384
Kniest Dysplasia	Enlarged joints, Hypoplastic pelvis, Conductive hearing impairment, Recurrent otitis media, Flatt...	OMIM:156550
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Macroglossia, Increased connective tissue, Muscular dystrophy, Triangular tongue, Skeletal muscle...	OMIM:616827
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Synostosis of carp...	ORPHA:2639
Weismann-Netter Syndrome	Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi...	ORPHA:3344
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Thin vermilion border, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, ...	OMIM:609945
Summitt Syndrome	Craniosynostosis, Syndactyly	OMIM:272350
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac...	OMIM:113310
Short Rib-Polydactyly Syndrome	Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Intestinal malrotati...	ORPHA:1505
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hip dysplasia, Type E brachydactyly, Delayed pubic bone ossification, Limited elbow extension, Sh...	ORPHA:1856
Femur-Fibula-Ulna Complex	Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ...	ORPHA:2019
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia	Enamel hypoplasia, Abnormal cerebral white matter morphology, Mandibular prognathia, Sandal gap, ...	OMIM:600991
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Narrow mout...	OMIM:311300
Brachydactyly, Type B1	Hypoplastic sacrum, Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal...	OMIM:113000
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Contractures of the joints of the lower limbs, Talipes equinovarus, Abnormal foot morphology, Ske...	OMIM:613710
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Peripheral Dysostosis	Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger	OMIM:170700
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Craniometaphyseal Dysplasia, Autosomal Dominant	Erlenmeyer flask deformity of the femurs, Tooth malposition, Mandibular prognathia, Club-shaped d...	OMIM:123000
Acromesomelic Dysplasia, Maroteaux Type	Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Kyp...	ORPHA:40
Temple Syndrome	Short philtrum, Recurrent otitis media, Short foot, Posteriorly rotated ears, Clinodactyly, Small...	OMIM:616222
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Syndactyly, 2-4 toe syndactyly	OMIM:241000
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome	Clubbing of fingers, Swan neck-like deformities of the fingers, Cutaneous finger syndactyly, Thor...	ORPHA:329252
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Short metatarsal, Short phalanx of finger, Hypoplasia of the corpus callosum, Post...	OMIM:617102
Stickler Syndrome, Type Ii	Pierre-Robin sequence, Micrognathia, Sensorineural hearing impairment, Cleft palate, Bifid uvula,...	OMIM:604841
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Beaking of vertebral bodies, Irregular vertebral endplates, Sc...	OMIM:604864
Gordon Syndrome	Cryptorchidism, Camptodactyly of finger, Finger syndactyly, Talipes, Cleft palate, High palate, C...	ORPHA:376
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split hand, Hand monodactyly, Split foot	OMIM:183800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short philtrum, Metaphyseal chondrodysplasia, Rhizomelia, Metaphyseal cupping of metacarpals, Dea...	ORPHA:163966
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly	Partial duplication of eyebrows, 2-3 toe syndactyly, 2-4 finger syndactyly, Long eyelashes	OMIM:227210
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Scapular winging, Spinal muscular atrophy, Achilles tendon contracture, Hip contracture, Knee fle...	OMIM:615290
Brachydactyly-Distal Symphalangism Syndrome	Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd...	OMIM:113450
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Conductive hearing impairment, Torus palatinus, Calvarial osteosclerosis, Abnorm...	OMIM:607634
Thanatophoric Dysplasia Type 1	Short femur, Wide anterior fontanel, Split hand, Hypoplastic ilia, Short greater sciatic notch, B...	ORPHA:1860
Sprengel Deformity	Abnormality of the shoulder girdle musculature, Shoulder muscle hypoplasia, Torticollis	ORPHA:3181
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal irregularity, Rhizomelia, Short finger, Hypoplastic inferior ilia, Metaphyseal cuppin...	OMIM:608940
Trichorhinophalangeal Syndrome, Type Iii	Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger, Dental crowding, Short fing...	OMIM:190351
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Solitary median maxillary central incisor, Postaxial foot polydactyly...	OMIM:193530
Hypertension And Brachydactyly Syndrome	Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal	OMIM:112410
20Q11.2 Microdeletion Syndrome	Short philtrum, Finger clinodactyly, Talipes calcaneovalgus, Camptodactyly, Adducted thumb, Brach...	ORPHA:444051
Arthrogryposis, Distal, Type 2E	Arthrogryposis multiplex congenita, Joint contractures involving the joints of the feet, Distal a...	OMIM:121070
Charcot-Marie-Tooth Disease, Type 4H	Small thenar eminence, Small hypothenar eminence, Distal lower limb amyotrophy, Distal lower limb...	OMIM:609311
Atelosteogenesis, Type Iii	Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Elbow dislocati...	OMIM:108721
Multiple Epiphyseal Dysplasia Type 1	Hip dysplasia, Genu valgum, Finger joint hypermobility, Avascular necrosis of the capital femoral...	ORPHA:93308
Acheiropodia	Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho...	ORPHA:931
Ivic Syndrome	Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar...	OMIM:147750
Bardet-Biedl Syndrome 6	Polydactyly, Syndactyly	OMIM:605231
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Genu valgum, Small pituitary gland, Cleft palate, Decreased testicular size	OMIM:614880
Atelosteogenesis Type Iii	Vertebral hypoplasia, Talipes equinovarus, Ulnar deviation of the wrist, Elbow dislocation, Micro...	ORPHA:56305
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease	Abnormality of the tongue, Broad palm, Short palm, Intestinal malrotation, Bilateral cleft lip an...	OMIM:601165
Insulin-Like Growth Factor I Deficiency	Micrognathia, Clinodactyly, Sensorineural hearing impairment, Radial deviation of finger	OMIM:608747
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger	OMIM:190680
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4	Spinal muscular atrophy, Scapuloperoneal amyotrophy, Distal amyotrophy, Joint contracture of the ...	OMIM:611067
Metaphyseal Chondrodysplasia, Kaitila Type	Limited elbow extension, Proximal femoral metaphyseal irregularity, Enlarged joints, Short metata...	OMIM:250230
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate	Preaxial hand polydactyly, Hypoplasia of the corpus callosum, Cleft upper lip, Cleft palate, Micr...	OMIM:601420
Acheiropody	Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Aplas...	OMIM:200500
Developmental Dysplasia Of The Hip 2	Hip dysplasia, Coxa valga	OMIM:615612
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph...	OMIM:605282
Heart-Hand Syndrome, Slovenian Type	Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Short finger, Syndactyly, Split foot, Hypoplasia of the ulna	OMIM:314360
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Selective tooth agenesis, Conical tooth, Triphalangeal thumb, Brachydactyly	OMIM:124480
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Overlapping fingers, Camptodactyly, Limb undergrowth, Dysplastic corpus callosum, Cleft upper lip...	OMIM:601016
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Thick vermilion border, Short 1s...	OMIM:601957
Acrorenal Syndrome	Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Cleft palate, Abno...	ORPHA:971
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Proximal Symphalangism	Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Proximal symphalangism, E...	ORPHA:3250
Whistling Face Syndrome, Recessive Form	Long philtrum, Talipes equinovarus, Shoulder flexion contracture, Narrow mouth, Camptodactyly, Tr...	OMIM:277720
Metaphyseal Acroscyphodysplasia	Scoliosis, Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ...	OMIM:250215
Arthrogryposis, Distal, Type 2B1	Long philtrum, Rocker bottom foot, Camptodactyly of finger, Talipes equinovarus, Narrow mouth, Ab...	OMIM:601680
Rubinstein-Taybi Syndrome 2	Carious teeth, Posterior helix pit, Narrow palate, Broad thumb, Micrognathia, Intestinal malrotat...	OMIM:613684
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Short metatarsal, Abnormality of the vertebral column, Enlarged interphalangeal j...	OMIM:151200
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Cryptorchidism, Long philtrum, Narrow mouth, Dental crowding, Microretrognathia, Mandibular progn...	OMIM:300998
Acromicric Dysplasia	Long philtrum, Abnormality of femur morphology, Narrow mouth, Abnormality of epiphysis morphology...	ORPHA:969
Li-Campeau Syndrome	Low-set ears, Long philtrum, Patellar hypoplasia	OMIM:619189
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Arthrogryposis multiplex congenita, Skeletal muscle atrophy	OMIM:253310
Metaphyseal Acroscyphodysplasia	Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Joint dislocati...	ORPHA:1240
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Distal Myopathy, Tateyama Type	EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr...	ORPHA:488650
Distal Limb Deficiencies-Micrognathia Syndrome	Oligodactyly, Tarsal synostosis, Microretrognathia, Aplasia/Hypoplasia of the radius, Abnormality...	ORPHA:1307
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Genu valgum, Club-shaped proximal femur, Delayed pubic bone ossification, Metaphyseal irregularit...	OMIM:184250
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly	Oligodontia, Short proximal phalanx of finger, Short toe, Short finger, Supernumerary tooth, Shor...	OMIM:191482
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Split hand, Camptodactyly, Sparse scalp hair, Syndactyly, Sparse and thin eyebrow, Joint contract...	OMIM:225280
Microphthalmia With Limb Anomalies	Talipes equinovarus, Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpa...	OMIM:206920
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Low-set, posteriorly rotated ears, Abnormal palate morphology, Abnormality of ...	ORPHA:1506
Hip Dysplasia, Beukes Type	Hip dysplasia, Abnormal ossification involving the femoral head and neck, Abnormality of epiphysi...	ORPHA:2114
Zimmermann-Laband Syndrome 3	Triphalangeal thumb, Absent distal phalanx of the 2nd toe, Aplasia of the distal phalanx of the 5...	OMIM:618658
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, Oligodontia, Short metatarsal, Short phalanx of finger, Clinodactyly of the 5t...	OMIM:170390
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Short philtrum, Tooth malposition, Everted lower lip vermilion, Malar flattening,...	ORPHA:1387
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hamartoma of tongue, Intestinal malrotation, Postaxial polydactyly, Short digit, Femoral bowing, ...	OMIM:613091
Cornelia De Lange Syndrome 2	Downturned corners of mouth, High palate, Smooth philtrum, Thin upper lip vermilion, Clinodactyly...	OMIM:300590
Spastic Paraplegia 64, Autosomal Recessive	Talipes equinovarus, Skeletal muscle atrophy	OMIM:615683
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Hip dysplasia, Dislocated radial head, Limited elbow extension, Talipes equinovarus, Abnormality ...	ORPHA:93359
Meier-Gorlin Syndrome 2	Narrow mouth, Camptodactyly, Smooth philtrum, Abnormality of the pinna, Slender long bone, Aplasi...	OMIM:613800
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Peters anomaly, Brac...	OMIM:610023
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion contracture, Talipes...	ORPHA:496689
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Downturned corners of mouth, Thick upper lip vermili...	OMIM:301026
Anauxetic Dysplasia 2	Cubitus valgus, Macroglossia, Hypoplasia of the femoral head, Hypodontia, Metaphyseal dysplasia, ...	OMIM:617396
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc...	OMIM:271530
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip dysplasia, Abnormality of the knee, Hip subluxation, Protrusio acetabuli, Flattened femoral h...	ORPHA:99642
Baller-Gerold Syndrome	Narrow mouth, Conductive hearing impairment, Micrognathia, Bowing of the long bones, Aplasia/Hypo...	ORPHA:1225
Fetal Akinesia Deformation Sequence 4	Rocker bottom foot, Camptodactyly, Posteriorly rotated ears, Low-set ears, High palate, Retrognat...	OMIM:618393
Odontochondrodysplasia 1	Long philtrum, Delayed eruption of teeth, Short phalanx of finger, Cone-shaped epiphyses of the p...	OMIM:184260
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Thin vermilion border, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Low-set,...	ORPHA:1150
Acromesomelic Dysplasia, Demirhan Type	Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ...	OMIM:609441
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Microcephaly, Brachydactyly, Wormian bones, Short distal phalanx of finger	ORPHA:2787
Acrootoocular Syndrome	Small hypothenar eminence, Grayish enamel, Sandal gap, High, narrow palate, Micrognathia, Small t...	ORPHA:2980
Synpolydactyly 2	Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar...	OMIM:608180
Thyroid Hormone Metabolism, Abnormal	Elevated circulating thyroid-stimulating hormone concentration	OMIM:609698
Oculoauriculovertebral Spectrum With Radial Defects	Triphalangeal thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyly, Conductiv...	ORPHA:2549
Satb2-Associated Syndrome Due To A Pathogenic Variant	Long philtrum, Lower limb asymmetry, Broad thumb, Drooling, Micrognathia, Smooth philtrum, Abnorm...	ORPHA:576283
Bardet-Biedl Syndrome 4	Cryptorchidism, Polydactyly, Abnormality of the dentition, Syndactyly, Hypogonadism, Brachydactyly	OMIM:615982
Cenani-Lenz Syndrome	Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synostosis of carp...	ORPHA:3258
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Broad distal phalanx of finger, Short femur, Talipes equinovarus, Narr...	OMIM:300990
Aphalangy-Syndactyly-Microcephaly Syndrome	Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short...	ORPHA:1113
Desbuquois Dysplasia 1	Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Pes planus, Sanda...	OMIM:251450
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Cleft palate, Retrogna...	OMIM:165590
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Death in infancy	OMIM:614876
Smith-Magenis Syndrome	Pes planus, Short palm, Morphological abnormality of the middle ear, Mandibular prognathia, Abnor...	OMIM:182290
Conductive Deafness-Malformed External Ear Syndrome	Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal...

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Pitx1 MGI:107374

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Legacy Phenotype Associated Images

Human diseases caused by Pitx1 mutations