Gene Summary

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

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 autopod morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.08×10-05
vertebral transformation Pitx1em1(IMPC)Wtsi HET Early adult 7.17×10-05
abnormal tibia morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.71×10-16
abnormal nail morphology Pitx1em1(IMPC)Wtsi HET   Early adult 8.67×10-06
abnormal femur morphology Pitx1em1(IMPC)Wtsi HET Early adult 6.01×10-09
abnormal cornea morphology Pitx1em1(IMPC)Wtsi HET Early adult 4.22×10-08
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
polysyndactyly Pitx1em1(IMPC)Wtsi HET Early adult 5.63×10-08
fused phalanges 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 Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

5 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
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 Similarity of
phenotypes
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...