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Gene: Hoxd13 MGI:96205

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
homeobox D13
Synonyms:
Hox-4.8,  spdh

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by Hoxd13 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 predicted to be associated to Hoxd13 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Dystelephalangy
Curved distal phalanx of the 5th finger OMIM:128000
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Brachydactyly, Type A1, D
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... OMIM:616849
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Genochondromatosis
Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of humerus OMIM:137360
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Metacarpal 4-5 Fusion
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... OMIM:309630
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... OMIM:606835
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Broad Terminal Phalanges, Familial
Broad distal phalanx of the toes, Broad distal phalanx of finger OMIM:602071
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... OMIM:610797
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Thumb Deformity
Aplasia/Hypoplasia of the thumb OMIM:188100
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... OMIM:606895
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Thiemann Disease, Familial Form
Limitation of joint mobility, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Avas... ORPHA:3314
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... OMIM:183600
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Brachydactyly, Type A2
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... OMIM:112600
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Brachydactyly Type A7
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... ORPHA:93397
Symphalangism, Proximal, 1B
Clinodactyly of the 5th finger, Short 2nd finger, Abnormal finger flexion crease, Proximal/middle... OMIM:615298
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... ORPHA:93406
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1040
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... ORPHA:1278
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... OMIM:250460
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... ORPHA:1078
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... OMIM:132400
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... ORPHA:93351
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Male hypogonadism, Azoospermia OMIM:241000
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... OMIM:271650
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A OMIM:618498
Cleidorhizomelic Syndrome
Clinodactyly of the 5th finger, Rhizomelia, Short middle phalanx of the 5th finger OMIM:119650
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... OMIM:609432
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Mental Retardation Syndrome, Mietens-Weber Type
Absent proximal radial epiphyses, Elbow flexion contracture, Forearm undergrowth, Dislocated radi... OMIM:249600
Brachydactyly, Type A2, With Microcephaly
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... OMIM:211369
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... OMIM:164900
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Adams-Oliver Syndrome 3
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... OMIM:614814
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S... ORPHA:79106
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Multiple Synostoses Syndrome
Brachydactyly, Joint stiffness, Symphalangism affecting the phalanges of the hand, Cone-shaped ep... ORPHA:3237
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... OMIM:225280
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Talipes, Abnormality of the vertebr... ORPHA:1856
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... ORPHA:968
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... OMIM:151200
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension, Short metatarsal... OMIM:180870
Blount Disease, Adolescent
Genu varum, Osteochondritis dissecans, Bowing of the legs OMIM:259200
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly ORPHA:2935
Smith-Mccort Dysplasia 2
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br... OMIM:615222
Bardet-Biedl Syndrome 5
Syndactyly, External genital hypoplasia, Polydactyly, Hypogonadism, Micropenis, Brachydactyly OMIM:615983
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... ORPHA:1350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... OMIM:605432
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Split foot, Split hand, Tapered finger OMIM:220600
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Knee pain, Delayed epiphys... OMIM:600969
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,... ORPHA:2249
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Cooks Syndrome
Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd... ORPHA:1487
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... ORPHA:973
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... OMIM:251255
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia ORPHA:71289
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet... OMIM:190351
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... ORPHA:93307
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb OMIM:613681
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b... ORPHA:2878
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Decreased body weight, Broad phalanx, Short phalanx of finger... OMIM:618724
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
Metatarsus adductus, Unusual dermatoglyphics OMIM:112370
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr... ORPHA:370010
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... OMIM:177170
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Low posterior hairline, Infertility, Cubitus valgus, Micropenis, Decreased test... ORPHA:261524
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly, Obesity OMIM:615988
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Satoyoshi Syndrome
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Amenorrhea, Osteolytic defects of the p... OMIM:600705
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius ORPHA:1765
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse... OMIM:251450
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Symphalangism affecting the phalanges of the hand, Shorte... ORPHA:93394
Jackson-Weiss Syndrome
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... OMIM:123150
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath... OMIM:227270
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short thumb, Postaxial hand polydactyly, Glandular hypospadias, Short 2nd toe, Short 5th finger OMIM:176305
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Small for gestational age, Upper limb phocomelia, Abnormality of the vertebral column... ORPHA:294975
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Delayed skeletal maturation, Cone-shaped epiphysis, Sho... OMIM:102370
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutaneous finger syndac... DECIPHER:46
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Brachydactyly OMIM:612463
Tetrasomy X
Premature ovarian insufficiency, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Cl... ORPHA:9
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... OMIM:617974
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossification of carpal ... OMIM:614613
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... ORPHA:3266
Bardet-Biedl Syndrome 7
Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly OMIM:615984
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... OMIM:605282
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... OMIM:618435
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali... ORPHA:2491
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Micrognathia, Recurrent patel... OMIM:614078
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Radioulnar synostosis, Dislocated radial head OMIM:266255
Metaphyseal Dysplasia, Spahr Type
Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy... OMIM:250400
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ... OMIM:184252
Acromicric Dysplasia
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Delayed skeletal maturation, Small han... ORPHA:969
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Hand-Foot-Genital Syndrome
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... OMIM:140000
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia OMIM:277150
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Exostoses, Multiple, Type Ii
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... OMIM:133700
Acrorenal Syndrome
Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ... ORPHA:971
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... ORPHA:93308
Acromegaloid Facial Appearance Syndrome
Highly arched eyebrow, Tapered finger, Micrognathia, Synophrys, Large hands, Short 5th metacarpal... OMIM:102150
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... OMIM:108721
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... ORPHA:399086
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli... ORPHA:3104
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... ORPHA:40
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal ORPHA:228190
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cryptorchidism ORPHA:2489
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Winchester Syndrome
Arthropathy, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, ... OMIM:277950
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Pierre Robin Sequence With Facial And Digital Anomalies
Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of... OMIM:311895
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... OMIM:618392
Jackson-Weiss Syndrome
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... ORPHA:1540
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn... ORPHA:75508
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Prenatal Bowing
Bowing of the long bones OMIM:264050
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Hand muscle weakness, Abnormality of the foot musculature, Split hand, Dista... ORPHA:100998
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... OMIM:156510
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly OMIM:113300
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... OMIM:617102
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Metatarsus Varus, Type I
Metatarsus adductus OMIM:156520
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... OMIM:608940
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... ORPHA:2619
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Synophrys, Brachydactyly OMIM:612001
Orofaciodigital Syndrome Xviii
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... OMIM:617927
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... OMIM:618395
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... ORPHA:3250
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Polydactyly, Renal cyst OMIM:615987
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Summitt Syndrome
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Obesity, G... ORPHA:3210
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Abnormality of hair texture, Short first metatars... OMIM:601957
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Mmep Syndrome
Cryptorchidism, Split foot, Triphalangeal thumb ORPHA:3434
Acrorenal Syndrome
Hand oligodactyly OMIM:102520
Peripheral Dysostosis
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... ORPHA:1795
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Split hand, Flexion contracture, Spa... ORPHA:2850
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Split hand, Absent hand, Oligodactyly ORPHA:2440
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met... OMIM:184260
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Hypospadias, Short hallux, Proximal placement ... ORPHA:2438
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... OMIM:617866
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Feingold Syndrome Type 2
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly ORPHA:391646
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Charlie M Syndrome
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... ORPHA:1406
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Highly ar... OMIM:216100
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Joint hyperflexibility ORPHA:238446
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Acromesomelic Dysplasia 4
Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie... OMIM:619636
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Summitt Syndrome
Syndactyly, Obesity, Craniosynostosis OMIM:272350
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes planus, Tapered finger, Cryptorchidism, Short foot, Pes cavus, Thick eyebrow OMIM:309585
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of th... ORPHA:3268
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... OMIM:612961
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Pseudohypoparathyroidism, Subcutaneo... OMIM:103580
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio... OMIM:194350
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... OMIM:620019
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of... OMIM:609616
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... ORPHA:2831
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly ORPHA:1937
Moebius Syndrome
Syndactyly, Brachydactyly, Pes planus, Hypogonadotropic hypogonadism, Micrognathia, Split hand, M... OMIM:157900
Bardet-Biedl Syndrome 4
Syndactyly, External genital hypoplasia, Cryptorchidism, Renal cyst, Polydactyly, Hypogonadism, B... OMIM:615982
Eem Syndrome
Finger syndactyly, Absent eyebrow, Sparse scalp hair, Ectrodactyly, Sparse body hair ORPHA:1897
2q37 monosomy
Brachydactyly DECIPHER:44
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Postaxial polydactyly OMIM:615985
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Hammertoe, Distal amyotrophy, Limb mus... OMIM:118300
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont... OMIM:603543
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Talipes, Cryptorchidism, Limitation of joint mobility... ORPHA:376
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb OMIM:179270
Emery-Nelson Syndrome
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ... ORPHA:1927
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Pde4D Haploinsufficiency Syndrome
Micrognathia, Accelerated skeletal maturation, Short metatarsal, Irregular vertebral endplates, B... ORPHA:439822
Marinesco-Sjogren Syndrome
Pes planus, Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Flexion contr... OMIM:248800
W Syndrome
Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub... ORPHA:2804
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... ORPHA:2370
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... ORPHA:3016
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Failure to thrive, Short hallux, Spinal rigidity, Limitation of joint mobility, Ec... ORPHA:337
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspond... OMIM:619638
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin... OMIM:619135
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc... OMIM:210720
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Small for gestational age, Delayed skeletal maturation, Genu valgu... OMIM:608154
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Abnormal fibula morphology, Tibial bowing,... ORPHA:3035
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo... OMIM:612847
Chst3-Related Skeletal Dysplasia
Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormality o... ORPHA:263463
Metachondromatosis
Abnormal joint morphology, Bowing of the long bones OMIM:156250
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... ORPHA:1240
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Joint laxity, Short metacarpal, Pes planus, Camptodactyly of finger, Kyphoscoliosis, ... OMIM:612350
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... OMIM:611717
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly ORPHA:2150
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly OMIM:300577
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e... OMIM:146000
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Ectrod... OMIM:147950
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Postaxial h... OMIM:615994
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly ORPHA:3303
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, ... ORPHA:65759
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... OMIM:607326
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm... ORPHA:1837
Craniosynostosis 3
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Low anterior hairline,... OMIM:615314
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Split hand, Talipes equinovarus OMIM:607831
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Brachydactyly OMIM:614257
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Cryptorchidism, Nephrocalcinosis, Short long bone, Brachydactyly OMIM:615633
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Distal amyotrophy, First dorsal intero... OMIM:270685
Congenital Vertical Talus
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Achilles te... ORPHA:178382
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Foot dorsiflexor weak... OMIM:118220
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... ORPHA:2900
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Hypogonadism, Low uri... OMIM:612462
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular necrosis of... ORPHA:2557
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum... ORPHA:2091
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Rubinstein-Taybi Syndrome 2
Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Micrognathia, Short first metatar... OMIM:613684
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Sclerosteosis
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... ORPHA:3152
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... OMIM:193530
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm... OMIM:614813
Split-Hand/Foot Malformation 3
Microretrognathia, Split hand, Renal hypoplasia, Nail dystrophy, Camptodactyly OMIM:246560
Feingold Syndrome 2
Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ... OMIM:614326
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Zechi-Ceide Syndrome
Sandal gap, Long foot, Short metatarsal, Short distal phalanx of finger OMIM:612916
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Joubert Syndrome 20
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Acces Syndrome
Sparse scalp hair, Supernumerary nipple, Hip dislocation, Horseshoe kidney, Hip dysplasia, Split ... OMIM:619959
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Joubert Syndrome 10
Hirsutism, Postaxial polydactyly OMIM:300804
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Short 5th fin... ORPHA:397590
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Shox-Related Short Stature
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... ORPHA:314795
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul... OMIM:212780
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Brachydactyly, Mesomelia ORPHA:1277
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral t... OMIM:601356
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the... OMIM:617604
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... OMIM:151210
Roifman-Chitayat Syndrome
Osteopenia, Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Arthritis, Umb... OMIM:613328
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... ORPHA:77258
Charcot-Marie-Tooth Disease, Type 4B2
Split hand, Hammertoe, Distal amyotrophy, Talipes equinovarus, Ulnar claw, Foot dorsiflexor weakness OMIM:604563
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Postaxial polydactyly, Mesoaxial hand polydacty... OMIM:615996
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... ORPHA:1826
Charcot-Marie-Tooth Disease Type 4D
Abnormal foot morphology, Split hand, Upper limb amyotrophy, Distal upper limb muscle weakness, H... ORPHA:99950
Bardet-Biedl Syndrome 3
Renal hypoplasia, External genital hypoplasia, Postaxial polydactyly, Brachydactyly OMIM:600151
Bardet-Biedl Syndrome 9
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Irregular men... OMIM:615986
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... ORPHA:85166
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... OMIM:614900
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... ORPHA:2256
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... ORPHA:1319
20Q11.2 Microdeletion Syndrome
Adducted thumb, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Brachydactyly ORPHA:444051
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Split hand, Hammertoe, Distal amyotrophy, Ulnar claw, Limb muscle weakness, Foot dorsiflexor weak... OMIM:118200
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalang... OMIM:190350
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, External genital hypoplasia, Large carpal bones, Abnor... ORPHA:99330
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... OMIM:618150
Angel-Shaped Phalango-Epiphyseal Dysplasia
Short 1st metacarpal, Delayed skeletal maturation, Joint hyperflexibility, Hip dysplasia, Short m... ORPHA:63442
Polydactyly-Myopia Syndrome
Cryptorchidism, Postaxial hand polydactyly ORPHA:2917
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Absent middle phalanx of 5th finger, Nail dystrophy, Triphalangeal thumb, Bilater... OMIM:124480
Seckel Syndrome 7
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, ... OMIM:614851
Cohen Syndrome
Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ... OMIM:216550
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Cryptorchidism, Abnorma... ORPHA:3121
Bardet-Biedl Syndrome 6
Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ... OMIM:605231
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis, Limitation of joint mobility, Ectopic ossif... ORPHA:2762
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Abnormality of the urethra, Split ... ORPHA:2145
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, ... ORPHA:3409
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Split hand, Foot polydactyly, Duodenal atresia ORPHA:3004
Acrodysostosis 1 With Or Without Hormone Resistance
Accelerated skeletal maturation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic ver... OMIM:101800
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... OMIM:617405
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus,... OMIM:618019
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Azoospermia, Infertility, Scoliosi... ORPHA:1445
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, Low posterior hairline, A... ORPHA:2183
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly... ORPHA:166024
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Broad hallux, Accelerated skeletal maturation, Short thumb, Premature osteo... OMIM:165800
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan... OMIM:615777
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Absence Deformity Of Leg-Cataract Syndrome
Abnormal epiphysis morphology, Abnormal femur morphology, Anal atresia, Lower limb undergrowth ORPHA:2310
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... ORPHA:424019
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... ORPHA:1836
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH administration... OMIM:603233
Joubert Syndrome 18
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Renal cyst, Horses... OMIM:614815
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... ORPHA:3098
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo... ORPHA:1307
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ... ORPHA:2928
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fourth metatarsal, Short fifth metatarsal, Alopecia, Joint hypermobility, Trichorrhexis nod... OMIM:261990
Arthrogryposis, Distal, Type 7
Micrognathia, Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Dist... OMIM:158300
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab... ORPHA:324442
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Joint hypermobility, Thoracolumbar kyphoscoliosis,... OMIM:618853
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... OMIM:174900
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Clinodactyly, Micrognathia ORPHA:357175
Ventriculomegaly With Defects Of The Radius And Kidney
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb OMIM:602200
Restrictive Dermopathy 2
Rectal prolapse, Overtubulated long bones, Gastroesophageal reflux, Short clavicles OMIM:619793
Osteoglophonic Dysplasia
Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, B... OMIM:166250
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:3201
Chromosome 15Q26-Qter Deletion Syndrome
Hypospadias, Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, M... OMIM:612626
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Sparse hair, Uncombable hair, Short 5th metacarpal, Brachydactyly ORPHA:1264
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly OMIM:619692
Arthrogryposis, Distal, Type 1A
Hip contracture, Stiff shoulders, Congenital hip dislocation, Overlapping toe, Single transverse ... OMIM:108120
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... OMIM:135750
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Pathologic fract... ORPHA:83468
Rhyns Syndrome
Short long bone, Radial bowing, Short femoral neck, Brachydactyly OMIM:602152
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Bardet-Biedl Syndrome 16
Renal insufficiency, External genital hypoplasia, Stage 5 chronic kidney disease, Renal cyst, Hyp... OMIM:615993
Bardet-Biedl Syndrome 22
Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly OMIM:617119
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly OMIM:618618
Terminal Osseous Dysplasia
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... OMIM:300244
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio... OMIM:600920
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone miner... ORPHA:2611
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Brachydactyly ORPHA:1919
Marshall Syndrome
Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy... OMIM:154780
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... ORPHA:392
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... OMIM:114300
Jeune Syndrome
Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polyd... ORPHA:474
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
High anterior hairline, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Accelerated skeletal m... ORPHA:380
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa... ORPHA:56304
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con... OMIM:208250
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Larsen Syndrome
Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Cryptorchidism, Acc... ORPHA:503
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Split hand, Low anterior hairline, Intrinsi... OMIM:618569
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Areflexia of lower limbs, Split hand, Pes cavus, Premature ovarian insufficiency OMIM:618124
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Clinodactyly, Micrognathia OMIM:615162
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Cubitus valgus, Clinodactyly, ... OMIM:610313
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... ORPHA:3258
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco... OMIM:274000
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t... ORPHA:246
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Pr... OMIM:215150
Zechi-Ceide Syndrome
Sandal gap, Thick hair, Short metatarsal, Long foot, Short distal phalanx of finger ORPHA:217017
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Short toe, Obesity, Short phalanx of finger, Type E br... OMIM:600430
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Peroneal muscle weakness, Hand ... ORPHA:101097
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Femoral bowing, Narrow... OMIM:207410
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly OMIM:615937
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Craniosynostosis ORPHA:2117
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Pes planus, Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid ... OMIM:184250
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... ORPHA:2496
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Bifid scrotum, Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Rudiger Syndrome
Single transverse palmar crease, Ureterovesical stenosis, Flexion contracture, Ovarian cyst, Bico... OMIM:268650
Aurocephalosyndactyly
4-5 toe syndactyly, Craniosynostosis OMIM:109050
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
Keipert Syndrome
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... OMIM:301026
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met... OMIM:602471
Roifman Syndrome
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Single transverse palmar crease, Sh... OMIM:616651
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Split hand, Pes cavus OMIM:617882
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Genu recurvatum, Split hand, Prima... OMIM:604168
Monosomy 5P
Microretrognathia, Finger syndactyly, Recurrent fractures, Short neck, Small hand, Joint hyperfle... ORPHA:281
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Split hand, Generalized amyotrophy, Dysphagia, Limb muscle weakness OMIM:614707
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Widow's peak, Small hand, Micropenis, Broad finger, Clinodactyly, Short phalanx o... OMIM:614684
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Delayed skeletal maturation, Small hand, Short foot, Truncal obesity, Hypogonadis... ORPHA:261483
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ... ORPHA:2741
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... ORPHA:1858
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Cryptorchidism, Pseudohypoparathyroidism, Patellar hypoplasia, Renal hyp... ORPHA:464288
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Delayed skeletal ... OMIM:170390
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ... OMIM:620076
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Micrognathia, 2-3 finger syndactyly, Clubbing ... ORPHA:2437
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Delayed skeletal maturation, Osteoporosis, Irregular vertebral e... OMIM:234250
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ... ORPHA:2879
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical... OMIM:150250
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Accelerated skeletal maturation, Irregular vertebral endplates, Knee dislocation, M... OMIM:618363
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro... OMIM:600325
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... OMIM:614175
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Microg... OMIM:166300
Microcephaly 27, Primary, Autosomal Dominant
Tapered finger, Metatarsus adductus, Cryptorchidism, Short finger, Clinodactyly of the 5th finger... OMIM:619180
Abruzzo-Erickson Syndrome
Toe syndactyly, Hypospadias, Cryptorchidism, Short toe, Coronal hypospadias, Ulnar deviation of f... ORPHA:921
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Osteolysis,... ORPHA:1657
Vertical Talus, Congenital
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus OMIM:192950
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Single transverse palma... OMIM:123450
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Pes planus, Urinary incontinence, Split hand, Intrinsic hand muscle atrophy, Absent Achilles refl... OMIM:616688
Microphthalmia, Syndromic 8
Cryptorchidism, Split foot OMIM:601349
Leg, Absence Deformity Of, With Congenital Cataract
Duplication involving bones of the feet, Anal atresia OMIM:246000
Pseudohypoparathyroidism Type 1C
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Decreased response to g... ORPHA:79444
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ... ORPHA:64754
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... ORPHA:1515
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... ORPHA:2377
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... OMIM:143095
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Unila... OMIM:618142
Microcephaly-Albinism-Digital Anomalies Syndrome
Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes ORPHA:2513
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density, Spinal dysraphism ORPHA:1114
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Weaver Syndrome
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... OMIM:277590
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Male pseudohermaphr... ORPHA:1422
Fanconi Anemia, Complementation Group O
Proximal placement of thumb, Absent thumb, Short thumb, Rectal atresia, Hypoplasia of the radius,... OMIM:613390
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Trip... ORPHA:2251
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Short finger OMIM:300209
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Small scrotum, Joint stiffness, Micrognathia, C... ORPHA:1300
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... OMIM:258860
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, C... OMIM:211750
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Hip dislocation, Sacral meningocele OMIM:223200
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Brachydactyly, Single transverse palmar crease, Wormian bones, M... OMIM:601224
Joubert Syndrome 17
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly OMIM:614615
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Clinodacty... ORPHA:251014
Biemond Syndrome Type 2
Hypogonadism, Hypospadias, Preaxial polydactyly, Hypogonadotropic hypogonadism ORPHA:141333
Intellectual Developmental Disorder, Autosomal Dominant 23
Sandal gap, Hypospadias, Postaxial polydactyly, Synophrys, Low anterior hairline, Broad distal ph... OMIM:615761
Muenke Syndrome
Broad hallux, Capitate-hamate fusion, Coronal craniosynostosis, Cone-shaped epiphyses of the phal... OMIM:602849
Orofaciodigital Syndrome Xvii
Prominent metopic ridge, Short neck, Short middle phalanx of the 2nd finger, Partial duplication ... OMIM:617926
Acrootoocular Syndrome
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... ORPHA:2980
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... ORPHA:2008
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Hypospadias, Micromeli... OMIM:614091
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... OMIM:271600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus OMIM:618845
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Increased intervertebral space, Thoracic platyspondyly, Met... OMIM:618961
Anauxetic Dysplasia 1
Joint laxity, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Sh... OMIM:607095
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Pitt-Hopkins Syndrome
Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p... OMIM:610954
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Bifid scrotum, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Joint stiffness... ORPHA:1295
Laurence-Moon Syndrome
Micropenis, Small scrotum, Polydactyly, Abnormality of the hand OMIM:245800
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat... OMIM:620269
Weaver Syndrome
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Joint stiffness, Mic... ORPHA:3447
Microcephalic Primordial Dwarfism, Dauber Type
Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Primary amenorrhea, ... ORPHA:319675
Van Maldergem Syndrome 2
Osteopenia, Bifid scrotum, Short fourth metatarsal, Micrognathia, Clinodactyly, Cutaneous syndact... OMIM:615546
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Narrow pelvis bone, Absent or minimally ossified vert... ORPHA:66637
Cornelia De Lange Syndrome 2
Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Highly arched eyebrow, Microg... OMIM:300590
Craniofrontonasal Dysplasia
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... ORPHA:1520
Aarskog-Scott Syndrome
Finger syndactyly, Pes planus, Genu recurvatum, Single transverse palmar crease, Camptodactyly of... ORPHA:915
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Delayed skeletal maturation, Abnormal form of the v... ORPHA:1458
Acrocephalopolydactyly
Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly ORPHA:221054
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal finger morphology, Gastroesophageal reflux, Phocomelia,... ORPHA:2538
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Amelia, Clinodactyly of the 5th finger, Decreased skull ossification,... OMIM:601163
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor... ORPHA:93315
Ulnar Agenesis And Endocardial Fibroelastosis
Hand oligodactyly, Aplasia of the ulna OMIM:276822
Hypertrophic Neuropathy Of Dejerine-Sottas
Pes planus, Split hand, Hammertoe, Ulnar claw, Distal lower limb muscle weakness, Pes cavus OMIM:145900
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
Catel-Manzke Syndrome
Camptodactyly of finger, Joint stiffness, Metatarsus valgus, Micrognathia, Radial deviation of th... ORPHA:1388
Nephronophthisis 15
Polydactyly, Nephronophthisis OMIM:614845
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly OMIM:613819
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of... ORPHA:2319
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Pes cavus,... OMIM:169400
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Craniosynostosis, Delayed cr... OMIM:175700
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Delayed closure of the anterior fontanelle, Lower limb asymmetry, Dela... ORPHA:231140
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Arthrogryposis, Distal, Type 2B1
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... OMIM:601680
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... ORPHA:239
Martsolf Syndrome 1
Micrognathia, Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm,... OMIM:212720
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal... ORPHA:2511
Nicolaides-Baraitser Syndrome
Short palm, Joint dislocation, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abno... ORPHA:3051
Solitary Rectal Ulcer Syndrome
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer ORPHA:209964
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, Single transverse palmar crease, Adducted thumb, Hydrocele testis, High anteri... OMIM:620062
Steel Syndrome
Pes planus, Lumbar hyperlordosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Sco... OMIM:615155
Joubert Syndrome 7
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... OMIM:611560
Bnar Syndrome
Anteriorly placed anus, Anal stenosis, Abnormal fifth toe morphology ORPHA:217266
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Tracheomal... ORPHA:1001
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Flared metaphysis, ... ORPHA:93346
Osteoglosphonic Dysplasia
Rhizomelia, Failure to thrive in infancy, Craniosynostosis, Micrognathia, Cryptorchidism, Delayed... ORPHA:2645
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho... OMIM:615503
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pits, Cryptorchidism, Pla... ORPHA:377
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Pes planus, Toe syndactyly, Pes cavus ORPHA:217377
Multiple Synostoses Syndrome 4
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly OMIM:617898
Temtamy Syndrome
Pes planus, Micrognathia, Short toe, Genu varum, Joint hyperflexibility, Clinodactyly of the 5th ... ORPHA:1777
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteoly... ORPHA:88630
Zaki Syndrome
Sparse scalp hair, Toe syndactyly, Micrognathia, Sparse eyebrow, Long fingers, Ectrodactyly, Broa... OMIM:619648
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... OMIM:250220
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Auriculoosteodysplasia
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... ORPHA:114
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Wide cranial sutures, Hypospadias, Micrognathi... OMIM:601390
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... ORPHA:1952
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Distal Deletion 10Q
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali... ORPHA:96148
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal pha... ORPHA:15
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... OMIM:618658
Pseudohypoparathyroidism Type 1A
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Decreased response to g... ORPHA:79443
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os... ORPHA:2774
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger, Abnorm... OMIM:615226
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Joint laxity, Prominent metopic ridge, Arachnodactyly, Postaxial polydactyly, Tapered finger, Gen... OMIM:619721
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Wormian bones, Recurrent fractures, Fe... OMIM:610915
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... ORPHA:363417
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... OMIM:272460
Senior-Loken Syndrome 9
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial ne... OMIM:616629
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Vertebral segmen... ORPHA:2631
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Pes planus, Craniosynostosis, Microgna... ORPHA:166035
Peutz-Jeghers Syndrome
Rectal prolapse, Clubbing, Multiple gastric polyps, Hamartomatous polyposis, Intestinal bleeding,... OMIM:175200
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Delayed skeletal maturation, Short toe, ... ORPHA:3085
Cutis Laxa, Autosomal Recessive, Type Iie
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... OMIM:619451
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly OMIM:617169
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Ambigu... OMIM:617895
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Verheij Syndrome
Joint laxity, Vertebral fusion, Branchial cyst, Small for gestational age, Short neck, Hip disloc... OMIM:615583
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of the... OMIM:615632
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of... ORPHA:444002
Lowry-Wood Syndrome
Epiphyseal dysplasia, Brachydactyly, Joint stiffness, Elbow dislocation, Delayed skeletal maturat... ORPHA:1824
Joubert Syndrome 37
Decreased testicular size, Prominent metopic ridge, Postaxial polydactyly, Cryptorchidism, Sparse... OMIM:619185
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Short ribs, Hypopla... OMIM:173800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... OMIM:271640
Talonavicular Coalition
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... OMIM:186750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert... OMIM:268310
Ceroid Lipofuscinosis, Neuronal, 10
Split hand OMIM:610127
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... OMIM:301900
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Cryptorchidism, Flexi... OMIM:615547
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporefle... OMIM:162370
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Micrognathia, Cryptorchidism, Midshaft hypospadias, Long eyelashes, Worm... ORPHA:2863
Hogue-Janssen Syndrome 2
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal... OMIM:616362
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Abnormality of the urete... ORPHA:3378
Dysplasia Epiphysealis Hemimelica
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... ORPHA:1822
Intellectual Developmental Disorder, Autosomal Dominant 59
Short foot, Brachydactyly, Highly arched eyebrow, Short palm OMIM:618522
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, E... ORPHA:2869
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... ORPHA:2916
Autosomal Dominant Omodysplasia
Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Elbow dislocation, C... ORPHA:93328
Scalp Defects-Postaxial Polydactyly Syndrome
Sparse scalp hair, Postaxial polydactyly type A ORPHA:1003
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Craniosynostosis, Micrognathia, Sparse... OMIM:250410
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Cardioacrofacial Dysplasia 1
Limb undergrowth, Postaxial polydactyly, Genu valgum OMIM:619142
Developmental And Epileptic Encephalopathy 95
Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... OMIM:618143
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Femoral bowing, Abnormal ovarian mo... ORPHA:95699
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati... OMIM:218600
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly OMIM:600092
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly ORPHA:544254
Nievergelt Syndrome
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... OMIM:163400
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Single transverse palmar crease, Short nec... ORPHA:2332
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Abnormal hand morphology, Small hand OMIM:300261
Intellectual Developmental Disorder, X-Linked 9
Short distal phalanx of finger OMIM:309549
Intellectual Disability, Wolff Type
Microretrognathia, Camptodactyly of finger, Cryptorchidism, Delayed skeletal maturation, Limitati... ORPHA:3080
Lowry-Wood Syndrome
Small for gestational age, Squared iliac bones, Elbow flexion contracture, Hip dislocation, Multi... OMIM:226960
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregular epiph... OMIM:612813
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2233
Cleidocranial Dysplasia 2
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delay... OMIM:620099
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... OMIM:304120
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Elbow contracture, Craniosynostosis, Tarsal synostosis, Multip... OMIM:178110
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Aase-Smith Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes equinovarus, Abnormal hip bone... ORPHA:916
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
14Q24.1Q24.3 Microdeletion Syndrome
Joint laxity, Limited elbow extension and supination, Ectopic kidney, Short thumb, Cryptorchidism... ORPHA:401935
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Scholte Syndrome
Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased testicular size OMIM:300977
Dihydropyrimidinase Deficiency
Short phalanx of finger, Talipes equinovarus OMIM:222748
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... OMIM:268305
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Micrognathia, Missin... OMIM:200980
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Synophrys, Premature graying of hair, Cutaneous finger... OMIM:148820
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increa... OMIM:256050
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Ab... ORPHA:3130
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Narrow palm... ORPHA:177910
Grange Syndrome
Short palm, Syndactyly, Increased susceptibility to fractures ORPHA:79094
Congenital Neuronal Ceroid Lipofuscinosis
Split hand ORPHA:168486
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... ORPHA:3429
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme... ORPHA:2616
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Cry... ORPHA:163654
Laron Syndrome
Hypoplasia of penis, Micrognathia, Short toe, Abnormality of the elbow, Osteoarthritis, Brachydac... ORPHA:633
2Q24 Microdeletion Syndrome
Toe syndactyly, Small for gestational age, Camptodactyly of finger, Short neck, Long fingers, Bul... ORPHA:1617
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Delayed skeletal matur... OMIM:608328
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Pes planus, Sandal gap, Hypospadias, Cryptorchidism, Small hand, Short foot, Hypogo... OMIM:300354
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger OMIM:155050
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... ORPHA:137834
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly, Flexion contracture, Scoliosis OMIM:619091
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Delayed skeletal matur... ORPHA:1825
Cardiospondylocarpofacial Syndrome
Short palm, Brachydactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones ORPHA:3238
Distal Duplication 5Q
Hypoplasia of the ulna, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia of the radius, B... ORPHA:96097
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Joint laxity, Microretrognathia, Joint dislocation, Short clavicles, Short 4th metacarpal OMIM:606220
Erythrokeratodermia Variabilis
Alopecia, Tapered finger, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Abnormal ... ORPHA:317
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cryptorchidism... OMIM:615849
Oslam Syndrome
Clinodactyly, Radioulnar synostosis, Radial deviation of finger OMIM:165660
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... ORPHA:313892
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero... OMIM:134780
Adams-Oliver Syndrome
Finger syndactyly, Brachydactyly, Alopecia, Talipes, Abnormality of the lower limb, Absent toe, S... ORPHA:974
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... OMIM:612651
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Osteoarthritis, Abnormal fibula morphology, Genu valgum, Meta... ORPHA:85198
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... ORPHA:166277
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Proteinuria, Supernumerary nipple, Short iliac bones, Glomerulonephritis, Metaphyseal... OMIM:614376
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Joubert Syndrome 24
Postaxial foot polydactyly, Postaxial hand polydactyly, Talipes equinovarus OMIM:616654
Marinesco-Sjögren Syndrome
Short palm, External genital hypoplasia, Coxa valga, Avascular necrosis of the capital femoral ep... ORPHA:559
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange... ORPHA:710
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow... OMIM:617137
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Hypogonadism, External genital hypoplasia OMIM:615981
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... OMIM:618022
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Down-sloping shoulders, Synophrys, Joint hyperflexibility, Clinodactyly of the 5th finger, Brachy... ORPHA:1390
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Precocious puberty, Cryp... OMIM:620073
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Clinodactyly OMIM:300337
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Synophrys, 2-3 toe syndactyly, Gon... ORPHA:3306
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Congenital Disorder Of Glycosylation, Type Iic
Short foot, Widow's peak, Brachydactyly OMIM:266265
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Postaxial hand polydactyly, Foot polydactyly ORPHA:2155
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Micrognathia, Short neck, Delayed skeletal maturation, Small hand, Abnormal fo... ORPHA:1787
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing o... ORPHA:2198
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Rectal prolapse, Small hand, Narrow palate, Coronal craniosynostosis, Short foot, Cut... OMIM:235510
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Arthrogryposis multiplex congenita, ... ORPHA:86822
Hypoglossia-Hypodactylia
Adactyly, Microglossia, Split hand, Aglossia OMIM:103300
Crane-Heise Syndrome
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Hypoplasi... ORPHA:1512
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Sparse scalp hair, Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Joint hyperflexibility, P... ORPHA:2824
Roifman Syndrome
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Delayed prox... ORPHA:353298
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal ORPHA:66518
Isolated Klippel-Feil Syndrome
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal shoulder morphology, Abnormality o... ORPHA:2345
Wilson-Turner Syndrome
Pes planus, Hypogonadotropic hypogonadism, Tapered finger, Micrognathia, Cryptorchidism, Small ha... ORPHA:3459
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Syndactyly, Palmoplantar keratoderma OMIM:613576
Cocaine Embryofetopathy
Short distal phalanx of finger ORPHA:1911
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Single transverse palmar crease, Micromelia, Accelerated skeletal maturation, ... OMIM:618870
Silver-Russell Syndrome 3
Syndactyly, Ambiguous genitalia, Unilateral cryptorchidism, Elbow contracture, Small hand, Antecu... OMIM:616489
Septooptic Dysplasia
Anterior pituitary hypoplasia, Polydactyly, Decreased response to growth hormone stimulation test... OMIM:182230
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac... OMIM:600373
Bent Bone Dysplasia Syndrome 1
Bent long bone, Micrognathia, Hypoplastic pubic bone, Hirsutism, Decreased calvarial ossification... OMIM:614592
Cranioectodermal Dysplasia 3
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... OMIM:614099
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse... OMIM:607323
Holoprosencephaly, Semilobar, With Craniosynostosis
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... OMIM:601370
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno... ORPHA:85438
Vitamin K Antagonist Embryofetopathy
Short neck, Myelomeningocele, Punctate vertebral calcifications, Epiphyseal stippling, Short dist... ORPHA:1914
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Clinodactyly of the ... OMIM:201000
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr... OMIM:305620
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe, Ectopic kidney OMIM:181510
Adult Syndrome
Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Sparse axillary hair, Split hand, Sp... OMIM:103285
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Hypopl... OMIM:263750
Opsismodysplasia
Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Delayed skeletal maturation, Squa... ORPHA:2746
Anonychia-Onychodystrophy With Hypoplasia Or Absence Of Distal Phalanges
Complete duplication of thumb phalanx, Shortening of all distal phalanges of the toes, Short 5th ... OMIM:106995
Nicolaides-Baraitser Syndrome
Dry hair, Enlarged joints, Single transverse palmar crease, Short metatarsal, Low anterior hairli... OMIM:601358
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Flexion contracture, Hip dislocation, Cutaneous finger syndactyly, Short... OMIM:203550
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Weill-Marchesani Syndrome
Short thumb, Limitation of joint mobility, Brachydactyly ORPHA:3449
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Decreased bo... OMIM:618265
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Short foot, Ankle ... OMIM:275900
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Nephrocalc... ORPHA:264450
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... OMIM:609813
Joubert Syndrome 15
Ambiguous genitalia, Micropenis, Preaxial polydactyly, Nephronophthisis OMIM:614464
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... ORPHA:3265
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... ORPHA:163966
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... OMIM:300232
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi... OMIM:609128
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Alopec... OMIM:600785
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Anal stenosis, Toe syndactyly, Sandal gap, Abnormality of thumb ... ORPHA:235
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Joubert Syndrome 16
Polydactyly, Renal cyst, Nephronophthisis OMIM:614465
Ring Chromosome 6 Syndrome
Short neck, Short distal phalanx of finger ORPHA:1448
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... OMIM:224400
Mesoaxial Hexadactyly And Cardiac Malformation
Hand polydactyly, Abnormal 3rd finger morphology, External genital hypoplasia OMIM:249670
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Nephronophthisis, C... OMIM:266920
Silver-Russell Syndrome 1
Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, M... OMIM:180860
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Precocious puberty, Acromicria, Small hand, Short foot, Clinodactyly ORPHA:254525
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Opsismodysplasia
Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones... OMIM:258480
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Macroorchidism, Br... ORPHA:776
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, 2-3 toe... OMIM:613573
Wiedemann-Steiner Syndrome
Joint laxity, Pes planus, Sacral dimple, Tapered finger, Micrognathia, Contracture of the distal ... OMIM:605130
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Bilateral single transverse palmar creases, Camptodactyly of ... ORPHA:2083
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Micrognathia, Long fingers, Short toe, ... OMIM:618659
Bartsocas-Papas Syndrome 1
Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln... OMIM:263650
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Mitten deformity, Clinodactyly of t... OMIM:609638
Osteogenesis Imperfecta, Type Xix
Bowing of the arm, Rhizomelia, Bowing of the legs OMIM:301014
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... ORPHA:508533
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eyelashes, Generalized h... ORPHA:1514
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Single transverse palmar crease, Unilateral cryptorchidism, Abnormal ... OMIM:206920
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Primary amenorrhea, Hypoplasia of the uterus, Facial h... ORPHA:247768
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis... OMIM:305400
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Sclerosteosis 2
Cutaneous finger syndactyly, Short finger OMIM:614305
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Limita... ORPHA:2994
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia OMIM:601162
Weill-Marchesani Syndrome 3
Joint stiffness, Brachydactyly OMIM:614819
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... ORPHA:93258
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Short neck, Knee flexion contracture, Abnormal calc... OMIM:271665
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl... OMIM:107480
Refsum Disease, Classic
Short fourth metatarsal, Pes cavus, Abnormal renal physiology OMIM:266500
Focal Dermal Hypoplasia
Ureteral duplication, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metata... OMIM:305600
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Enlarged joints, Tapered finger, Short neck, Flattened epiphysis, Genu valg... OMIM:607131
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux OMIM:235750
Qazi-Markouizos Syndrome
Cryptorchidism, Delayed ossification of carpal bones, Tapered finger ORPHA:3010
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Clitoral hypertrophy, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormali... ORPHA:313855
Chromosome 3Pter-P25 Deletion Syndrome
Prominent metopic ridge, Overlapping toe, Highly arched eyebrow, Postaxial polydactyly, Tapered f... OMIM:613792
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Short distal phalanx of finger ORPHA:2776
Hall-Riggs Syndrome
Joint stiffness, Delayed skeletal maturation, Platyspondyly, Abnormal epiphysis morphology, Scoli... ORPHA:2107
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ... ORPHA:3082
Frontonasal Dysplasia 1
Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anterior basal encephalocele, Pectoral m... OMIM:136760
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Sacral d... ORPHA:1327
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, S... ORPHA:1784
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Cryptorchidism, Synophrys, Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Alopecia totalis, Talipes, Absent thumb, Aplasia/Hypoplasia of... ORPHA:1234
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla... OMIM:615349
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ... ORPHA:1553
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Proximal placement of thumb, Abnormal thumb morphology, ... ORPHA:94065
Anus, Imperforate
Anal atresia OMIM:207500
Orofaciodigital Syndrome Xv
Postaxial hand polydactyly, Broad hallux, Hydronephrosis, Duplication of phalanx of hallux OMIM:617127
Oculomaxillofacial Dysostosis
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormal eyelas... ORPHA:1794
Joubert Syndrome 23
Polydactyly OMIM:616490
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Sparse eyebrow, 3-4 finger syndactyly, 2-3 toe syndactyly OMIM:600906
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, 11 pairs of ribs, Sandal gap, Short toe, Delayed skeletal maturation, Clinodactyly of... OMIM:617877
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Limited elbow movement, Highly arched eyebrow, Limited knee flexion, ... OMIM:615065
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger... OMIM:272440
Non-Distal Deletion 10Q
Brachydactyly, Synophrys, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single t... ORPHA:1581
Pentasomy X
Camptodactyly of finger, Micrognathia, Small hand, Short foot, Radioulnar synostosis, Hip dysplas... ORPHA:11
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, 2-3 toe syndactyly, Renal cyst, Cutaneous syndactyly, Renal hypo... OMIM:236500
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... ORPHA:1225
Holzgreve Syndrome
Hand polydactyly, Renal hypoplasia OMIM:236110
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brachydactyly ORPHA:171866
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra... ORPHA:1005
Bardet-Biedl Syndrome 20
Proteinuria, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe... OMIM:619471
Pitt-Hopkins Syndrome
Pes planus, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Cryptorchidism... ORPHA:2896
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Syndactyly, Polydactyly OMIM:602501
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Micrognathia, Short neck, Adduc... ORPHA:1147
Omodysplasia 2
Short humerus, Dyspareunia, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular ... OMIM:164745
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... ORPHA:435638
Waardenburg Syndrome Type 3
Camptodactyly of finger, Joint stiffness, White hair, Abnormal finger morphology, Cutaneous finge... ORPHA:896
Acrocallosal Syndrome
Cryptorchidism, Postaxial hand polydactyly, Hypospadias, Triphalangeal thumb ORPHA:36
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po... OMIM:217085
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Ectopic anus, Cleft palate, Aplasia/Hypop... ORPHA:94066
Opitz-Kaveggia Syndrome
Syndactyly, Multiple joint contractures, Broad hallux, Single transverse palmar crease, Hypospadi... OMIM:305450
Rin2 Syndrome
Sparse scalp hair, Pes planus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, C... ORPHA:217335
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Micrognathia, Cryptorchidism, Camptodactyly, Micropenis, Absent pal... OMIM:614230
Say Syndrome
Ulnar deviation of the 3rd finger, Micrognathia, Short distal phalanx of finger, Tapered finger OMIM:181180
Short Stature With Microcephaly And Distinctive Facies
Osteopenia, Syndactyly, Brachydactyly, Microretrognathia, Small for gestational age, Proximal pla... OMIM:615789
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hyporeflexia of lower limbs, Peroneal muscle weakness, Equinovarus deformity... ORPHA:90658
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Micrognathia, Small hand, Obesity, Short foot, Scoliosis, Clinodactyly, Joint hypermobility ORPHA:254531
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon... ORPHA:1896
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Joubert Syndrome 33
Syndactyly OMIM:617767
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Woods Syndrome
Single transverse palmar crease, Supernumerary nipple, 3-4 finger cutaneous syndactyly, Frontal h... OMIM:615236
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ... OMIM:181450
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Syndactyly, Broad hallux, Hypospadias, Widow's peak, Hand polydactyly, Shawl scrot... OMIM:239710
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int... OMIM:271510
Nance-Horan Syndrome
Short metacarpal ORPHA:627
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Increased bone mineral density, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Adult Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Fine hair, Split f... ORPHA:978
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Brachydactyly OMIM:610498
Shashi-Pena Syndrome
Short metacarpal, Highly arched eyebrow, Unilateral renal agenesis, Synophrys, Osteoporosis, Deep... OMIM:617190
9Q21.13 Microdeletion Syndrome
Talipes, Craniosynostosis, Cryptorchidism, Hip dysplasia, Polydactyly, Hydronephrosis ORPHA:531151
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Tapered finger, Short toe, Cleft palate, Anteriorly placed anus, Delayed o... OMIM:239300
Al-Raqad Syndrome
Joint laxity, Sandal gap, Brachydactyly OMIM:616459
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis ORPHA:2010
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Nail dystrophy OMIM:226700
Meckel Syndrome 14
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... OMIM:619879
Joubert Syndrome 22
Postaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia OMIM:615665
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contract... OMIM:601559
Alg6-Cdg
Failure to thrive, Scoliosis, Shortening of all distal phalanges of the fingers, Brachydactyly ORPHA:79320
Albers-Schönberg Osteopetrosis
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... ORPHA:53
Charcot-Marie-Tooth Disease, Type 4B3
Pes planus, Syndactyly, Distal lower limb muscle weakness, Scoliosis OMIM:615284
Joubert Syndrome 39
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Premature ovarian insufficienc... ORPHA:221008
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, P... ORPHA:192
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Cryptorchidism, Abnormality of the elbow, Low posterior hairline, Aplasia/Hypo... ORPHA:2701
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Hypospadias, Cryptorchidism, Split hand, Clubbing, Shawl scrotum, Micropenis OMIM:600460
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Radial Aplasia, X-Linked
Absent radius, Anal atresia OMIM:312190
Geleophysic Dysplasia 1
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Joint stiffness, Short foot, Short l... OMIM:231050
Fountain Syndrome
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal dyspl... ORPHA:3219
20P13 Microdeletion Syndrome
Finger syndactyly, Failure to thrive in infancy, Polydactyly, Decreased body weight, Clinodactyly... ORPHA:313781
Bardet-Biedl Syndrome 12
Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot... OMIM:615989
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of m... OMIM:300863
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Highly arched eyebrow, Cryptorchidism, Low anterior hairline, 2-3 toe synd... ORPHA:404440
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnorm... OMIM:302960
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Patellar hypoplasia, Sparse hair, Short phalanx of finger, Genu va... ORPHA:221016
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph... OMIM:617425
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly... OMIM:619269
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial hand polydactyly, Postaxial foot polydactyly, Bile duct p... OMIM:607361
Refsum Disease
Short metacarpal, Renal insufficiency, Abnormal foot morphology, Hammertoe, Abnormal epiphysis mo... ORPHA:773
Tonne-Kalscheuer Syndrome
Decreased testicular size, Pes planus, Hypospadias, Micrognathia, Cryptorchidism, Fine hair, Micr... OMIM:300978
Adams-Oliver Syndrome 6
Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly OMIM:616589
Microphthalmia With Limb Anomalies
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... ORPHA:1106
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Abn... ORPHA:3224
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Blue Rubber Bleb Nevus
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception OMIM:112200
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Pes planus, Micrognathia, Short neck, Cryptorchidi... OMIM:618000
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... ORPHA:221120
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,... ORPHA:570
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Mohr Syndrome
Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F... OMIM:252100
Mucolipidosis Ii Alpha/Beta
Hypoplastic scapulae, Craniosynostosis, Coxa valga, Micrognathia, Hypoplasia of the odontoid proc... OMIM:252500
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia, Abnormal femo... ORPHA:3218
Osteogenesis Imperfecta, Type Xxi
Coxa valga, Bowing of the legs, Coxa vara, Wormian bones, Bowing of the arm OMIM:619131
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Micrognathia, Hyperlordosis, Vertebr... ORPHA:1323
Cardioacrofacial Dysplasia 2
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... OMIM:619143
Muenke Syndrome
Hypopigmentation of hair, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpa... ORPHA:53271
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Hypoplastic female external ge... ORPHA:1507
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Sparse scalp hair, Bilateral single transverse palmar creases, Talipes, Avascu... ORPHA:502
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... ORPHA:424016
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Dislocated radial head, Joint laxit... OMIM:102500
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Coxa valga, Delayed skeletal maturation, Hypoplastic vertebral bodies, Clinodac... ORPHA:2163
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Ambiguous genitalia, Enlarged kidney OMIM:613885
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly OMIM:219730
Atelosteogenesis Type I
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Annular pancreas, 2-3 toe syndactyly... OMIM:618162
Gracile Bone Dysplasia
Flared metaphysis, Slender long bone, Micropenis, Decreased skull ossification, Brachydactyly OMIM:602361
Orofaciodigital Syndrome Vi
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... OMIM:277170
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp... ORPHA:93317
Pentalogy Of Cantrell
Absent gallbladder, Hypospadias, Talipes, Abnormal tibia morphology, Split hand, Aplasia/Hypoplas... ORPHA:1335
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Spa... ORPHA:1433
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Specific Granule Deficiency 2
Osteopenia, Sandal gap, Hirsutism, Brachydactyly OMIM:617475
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Acrofacial Dysostosis, Catania Type
Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Abnormal hair pattern, Cryptorc... ORPHA:1786
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Hydronephrosis ORPHA:251046
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal hair pattern, Abnormality of the ureter, Pol... ORPHA:1770
Focal Dermal Hypoplasia
Finger syndactyly, Alopecia, Toe syndactyly, Multicystic kidney dysplasia, Abnormal palmar dermat... ORPHA:2092
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Premature thelarche, Abnormal hand morphology, Sclerotic cranial sutures... ORPHA:371428
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Bone... ORPHA:1752
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Small hand, Short foot, Hypogonadism, S... OMIM:300869
Grange Syndrome
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Decr... OMIM:602531
Hartsfield Syndrome
Syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Gonadotropin deficiency, Ectrodactyly,... OMIM:615465
Tarp Syndrome
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... OMIM:311900
Tenosynovial Giant Cell Tumor
Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Polyarticular arthropath... ORPHA:66627
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... ORPHA:93324
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... ORPHA:783
Campomelia, Cumming Type
Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplasia, Micromelia... ORPHA:1318
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies, Scoliosis, Brachydactyly ORPHA:2180
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility ORPHA:98797
Endove Syndrome, Limb-Brain Type
Joint laxity, Toe syndactyly, Osteomyelitis, Aplasia of the 3rd finger, Umbilical hernia, Triangu... OMIM:619218
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Cryptorch... ORPHA:2473
Blepharocheilodontic Syndrome 2
Distichiasis, Cutaneous syndactyly OMIM:617681
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella ORPHA:1149
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Osteoporosis, Camptodactyly OMIM:616006
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Anal atresia, Genu valgum ORPHA:1381
Osteogenesis Imperfecta, Type Xii
Hyperextensibility of the finger joints, Micrognathia, Bowing of the legs, Wormian bones, Bowing ... OMIM:613849
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... ORPHA:2655
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... ORPHA:2839
Lowe-Kohn-Cohen Syndrome
Anorectal anomaly, Anal atresia ORPHA:2408
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Meckel Syndrome, Type 2
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Bile duct proliferation, Polyda... OMIM:603194
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:604292
Bardet-Biedl Syndrome 1
Decreased testicular size, Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:209900
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Joint laxity, Pes planus, Calcaneovalgus deformity, Genu recurvatum OMIM:225320
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Knee flexion contracture OMIM:603387
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... ORPHA:2176
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Talipes equinovarus, Radial deviation of the 4th finger, Clinoda... OMIM:608545
Retinitis Pigmentosa 51
Polydactyly, Obesity OMIM:613464
Joubert Syndrome 27
Polydactyly OMIM:617120
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ... OMIM:146510
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Anal atresia ORPHA:3469
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Abnormality of the vertebral column, Hypogonadism, Short distal phalanx of ... OMIM:302950
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Renal cyst OMIM:263630
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Joint dislocation, Single transverse ... OMIM:616145
Cleft Palate-Large Ears-Small Head Syndrome
Delayed skeletal maturation, Micrognathia, Short distal phalanx of finger, Ulnar deviation of finger ORPHA:2013
Pycnodysostosis
Increased bone mineral density, Persistent open anterior fontanelle, Aplastic clavicle, Micrognat... OMIM:265800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, External genital hypoplasia, Micrognathia, Generalized joint laxity, Tibial bowing, C... ORPHA:251028
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E... OMIM:616266
Basal Cell Nevus Syndrome 1
Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Spina bifida, Palmar pits, Plantar pits... OMIM:109400
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly OMIM:235740
Thanatophoric Dysplasia Type 2
Encephalocele, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platys... ORPHA:93274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... OMIM:606612
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... ORPHA:93316
Pfeiffer Syndrome
Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... OMIM:101600
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankle, Tarsal synostosis ORPHA:1412
Keipert Syndrome
Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad... ORPHA:2662
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... ORPHA:3138
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... OMIM:114290
Coffin-Siris Syndrome 2
Sparse scalp hair, Thick eyebrow, Sandal gap, Cryptorchidism, Low anterior hairline, Long eyelash... OMIM:614607
14Q22Q23 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Small scrotum, Anterior pituitary hypoplasia, Micrognathia, Cr... ORPHA:264200
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Brachydactyly, Thick hair, Micrognathia, Synophrys, Hip dysplasia, Long eyelashes, Horizontal eye... OMIM:618381
Three M Syndrome 3
Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Prominent calcaneus, Joint hype... OMIM:614205
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arched eyebrow, ... ORPHA:178303
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Suleiman-El-Hattab Syndrome
Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal... OMIM:618950
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Abnormal eyelash morphology, Cryptorchidism, Low posterior hairline, Joint hyp... ORPHA:1252
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Abnormal hand morphology, Small hand, Azoospermia, Broad finger, ... OMIM:300845
White Forelock With Malformations
Finger syndactyly, Delayed skeletal maturation, Joint hyperflexibility, Clinodactyly of the 5th f... ORPHA:2475
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly, Hypospadias, Thick eyebrow OMIM:619736
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Bilateral c... ORPHA:485405
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Genu val... OMIM:615630
Mucopolysaccharidosis Type 1
Joint dislocation, Joint stiffness, Split hand, Low anterior hairline, Mucopolysacchariduria, Abn... ORPHA:579
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Renal insufficiency, Brachydactyly, Increased carrying angle, Nephropathy, Hy... OMIM:247410
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Sandal gap, Single transverse palmar crease, Morgagni diaphr... OMIM:613177
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Finger syndactyly, Hypospadias, Single transverse palmar crease, Ankle flexion contracture, Taper... ORPHA:435938
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... OMIM:620072
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Yunis-Varon Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... OMIM:216340
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism, Squared iliac bones, Preaxial ... OMIM:616300
Silver-Russell Syndrome
Abnormality of male external genitalia, Sandal gap, Hypospadias, Micrognathia, Precocious puberty... ORPHA:813
Pallister-Hall-Like Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation, Postaxial foot polydacty... OMIM:241800
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Brachydactyly, Abnormal form of the vertebral bodies, Abnormal metaca... ORPHA:93262
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Polydactyly, Complete duplication of thumb phalanx, Short p... ORPHA:59315
Radial-Renal Syndrome
Absent radius, Absent thumb OMIM:179280
Fanconi Anemia, Complementation Group W
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb OMIM:617784
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Cryptorchidism, 2-3 finger syndactyly ORPHA:1338
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas... ORPHA:110
Mucopolysaccharidosis, Type Ii
Heparan sulfate excretion in urine, Split hand, Flexion contracture, Dermatan sulfate excretion i... OMIM:309900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... OMIM:210710
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Anal atresia, Bilateral cleft lip and palate ORPHA:1997
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Persistent open anterior fontanelle, Wo... ORPHA:1798
Microcephaly-Micromelia Syndrome
Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra... OMIM:251230
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bil... OMIM:611561
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Thoracic kyphosis, Clinodactyly, Pes cavus OMIM:619092
Jansen-De Vries Syndrome
Short foot, Hyperlordosis, Small hand, Brachydactyly OMIM:617450
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow con... OMIM:617201
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly OMIM:614120
Pycnodysostosis
Persistent open anterior fontanelle, Micrognathia, Generalized osteosclerosis, Hypoplastic iliac ... ORPHA:763
Ritscher-Schinzel Syndrome 2
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Cryptorchidism, Low posterior... OMIM:300963
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Cryptorchidism, Postaxial hand polydacty... ORPHA:2075
Spermatogenic Failure 17
Male infertility OMIM:617214
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Limitation of joint ... ORPHA:3255
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... ORPHA:2658
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Kury-Isidor Syndrome
Finger syndactyly, Alopecia, Rocker bottom foot, Proximal placement of thumb, Hypertrichosis, Hip... OMIM:619762
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... ORPHA:2347
Spinocerebellar Ataxia, Autosomal Recessive 20
Brachydactyly, Oligosacchariduria, Talipes equinovarus, Camptodactyly, Clinodactyly, Hypertrichosis OMIM:616354
Temple-Baraitser Syndrome
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Pseudoepiphysis of the th... OMIM:611816
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus... ORPHA:3186
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa... OMIM:609465
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300554
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly OMIM:613604
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Micrognathia, Cryptorchidism, Flexion contracture, Short foot, Talipes... OMIM:300534
Oliver Syndrome
Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand polydactyly, Elbow flexi... ORPHA:2920
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu... OMIM:265000
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Renal insufficiency, Nephropathy, Short distal phalanx of finger, Generalized... ORPHA:1563
16P13.11 Microduplication Syndrome
Pes planus, Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly ORPHA:261243
Chitayat Syndrome
Hallux valgus, Tracheomalacia, Brachydactyly OMIM:617180
Craniosynostosis 2
Craniosynostosis, Unicoronal synostosis, Triphalangeal thumb, Metopic synostosis, Wormian bones, ... OMIM:604757
Cleidocranial Dysplasia
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Recurrent fractures, Tapered finger,... ORPHA:1452
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Joint stiffness, Hypoplasia of the odontoid process, Metaphyseal widening, ... OMIM:253200
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... ORPHA:3078
Feingold Syndrome
Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th... ORPHA:1305
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Sparse eyebrow, ... ORPHA:73246
Acrogeria
Micrognathia, Small hand, Fine hair, Short foot, Joint hyperflexibility ORPHA:2500
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Single transverse palmar crease, Limited elbow mo... OMIM:261540
17Q12 Microduplication Syndrome
Finger syndactyly, Synophrys, Toe syndactyly ORPHA:261272
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera... ORPHA:2890
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Metopic synostosis, Hypoplasia of the ulna, Ankle clonus, Lambdoidal craniosynostosis OMIM:615398
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Micrognathia, Small hand, Antecubital pterygium, Popliteal ptery... OMIM:619339
3Mc Syndrome 3
Bifid scrotum, Highly arched eyebrow, Cryptorchidism, Preaxial polydactyly, Horseshoe kidney, Mic... OMIM:248340
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Micrognathia, Cryptorchidism, Partial duplication of thumb phalanx, Partial duplic... OMIM:616331
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Cleft palate ORPHA:2476
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Ring Chromosome 12 Syndrome
Syndactyly, Cryptorchidism, Abnormal 5th finger morphology, Glandular hypospadias, Uterine leiomy... ORPHA:1439
Aredyld Syndrome
Craniofacial hyperostosis, Abnormality of the ureter, Abnormal pelvic girdle bone morphology, Spa... ORPHA:1133
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Kbg Syndrome
Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Cryptorchidism, Delaye... OMIM:148050
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome
Ectopic anus, Craniosynostosis ORPHA:2866
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Congenital diaphragmatic hernia, Abnormal femur morphology, Abnormal fib... ORPHA:2063
Orofaciodigital Syndrome V
Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Horsesh... OMIM:174300
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger OMIM:208060
Acrofacial Dysostosis, Weyers Type
Postaxial hand polydactyly, Small hand, Nail dystrophy, Clinodactyly of the 5th finger, Overlappi... ORPHA:952
Ellis-Van Creveld Syndrome
Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Epispadias, Cryptorchidism, Genu... OMIM:225500
Alagille Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the ulna, Micrognathia, Short distal phalanx of finger ORPHA:52
Sponastrime Dysplasia
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... ORPHA:93357
Anus, Imperforate
Ectopic anus, Anal atresia OMIM:301800
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co... OMIM:616007
Tarp Syndrome
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Ab... ORPHA:2886
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Short toe, Re... OMIM:225410
Robinow Syndrome, Autosomal Recessive 2
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Long eyelashes, Camptodactyly, Prominent finge... OMIM:618529
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint cont... OMIM:618914
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Temtamy Syndrome
Pes planus, Highly arched eyebrow, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinova... OMIM:218340
Aromatase Deficiency
Osteopenia, Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Luscan-Lumish Syndrome
Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries, High anterior ... OMIM:616831
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder disloc... ORPHA:536532
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Blepharocheilodontic Syndrome 1
High anterior hairline, Cutaneous syndactyly, Sparse hair, Clinodactyly, Distichiasis OMIM:119580
Contractural Arachnodactyly, Congenital
Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn... OMIM:121050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Brittle hair, Hypospadias, Joint stiffness, Short long bo... OMIM:619184
Maxillonasal Dysplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Vertebral clefting, Scoliosis, Patchy dis... ORPHA:1248
Distal Duplication 15Q
Congenital muscular torticollis, Arachnodactyly, Camptodactyly of finger, High palate, Anal atresia ORPHA:1707
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Orofaciodigital Syndrome Type 4
Joint dislocation, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Micrognath... ORPHA:2753
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... ORPHA:2484
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture, Cervical C2/C3 vertebral ... OMIM:616549
Orthostatic Hypotension 1
Joint hypermobility, Reduced circulating prolactin concentration, Retrograde ejaculation, Nocturi... OMIM:223360
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t... OMIM:608612
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Clubbing of fingers, Steatorrhea OMIM:219700
Floating-Harbor Syndrome
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ... OMIM:136140
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Single transverse palma... OMIM:303600
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Rectal prolapse, Short metatarsal, High palate, Gastroesophageal... OMIM:617157
Long Qt Syndrome 8
Syndactyly OMIM:618447
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Chilton-Okur-Chung Neurodevelopmental Syndrome
Short fourth metatarsal, Single transverse palmar crease, Anterior pituitary hypoplasia, Microgna... OMIM:619841
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly ORPHA:83473
D-Bifunctional Protein Deficiency
Osteopenia, Micrognathia, Split hand, Renal cyst, Hammertoe, Bile duct proliferation, Talipes equ... OMIM:261515
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal insufficiency, Abnormal acetabulum morphology, Hypospadias, Postaxial polydactyly, Supernum... ORPHA:397715
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Hip dysplasia, Proximal tubulopathy, Postaxial polydactyly OMIM:614576
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Wormian bones, Anterior concavity of thoracic vertebrae, Ky... OMIM:249420
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Brachydactyly, Microretrognathia, Overlapping toe, Rocker bottom f... ORPHA:488642
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocation, Short foot, Hip... OMIM:300968
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Hypere... OMIM:227330
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Short neck, Brachydactyly ORPHA:436245
Craniofrontonasal Syndrome
Joint laxity, Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Hypospadias, Unil... OMIM:304110
Acalvaria
Postaxial hand polydactyly ORPHA:945
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Decrea... OMIM:609053
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ... OMIM:607155
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Joint hyperflexibility, Hand polydactyly, Foot polydactyly, Fa... ORPHA:60040
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Scoliosis, Butterfly ve... OMIM:122600
X Small Rings
Joint laxity, Toe syndactyly, Premature ovarian insufficiency, Tapered finger, Osteoporosis, 2-3 ... ORPHA:96201
X-Linked Intellectual Disability, Hedera Type
Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypore... ORPHA:93952
Mosaic Trisomy 14
Camptodactyly of finger, Cleft palate, Ectopic anus, High palate, Bilateral single transverse pal... ORPHA:1703
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... ORPHA:3027
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Micrognathia, Kyphosis, Fused cervical vertebrae, Abnormal hip bone mo... ORPHA:2522
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Hypospadias, Proximal placement of thumb, Micrognathia, Cryptorchidism, Short palm, T... OMIM:217980
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Supern... ORPHA:217346
Acrofrontofacionasal Dysostosis 1
Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Acetabular dysplasia, Broad thumb,... OMIM:201180
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Sym... ORPHA:46627
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Sp... OMIM:600987
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the radius, Aplasia/Hypoplasia of th... ORPHA:245
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi... OMIM:610759
Coffin-Siris Syndrome 6
Kyphoscoliosis, Micrognathia, Wormian bones, Clinodactyly, Brachydactyly OMIM:617808
Fanconi Anemia, Complementation Group D1
Short thumb, Anal atresia OMIM:605724
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Hypospadias, Hypergo... ORPHA:2959
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormality of the cervical spine, Ankle swelling,... ORPHA:85408
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Finger syndactyly, Sparse scalp hair, Hypospadias, Sparse eyebrow ORPHA:66629
Joubert Syndrome 32
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617757
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Trisomy 9P
Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino... ORPHA:236
Non-Distal Duplication 13Q
Arachnodactyly, Abnormal eyelash morphology, Cryptorchidism, Postaxial hand polydactyly, Synophry... ORPHA:1702
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Finger sy... ORPHA:818
Histidinuria-Renal Tubular Defect Syndrome
Delayed skeletal maturation, Short middle phalanx of finger, Rounded middle phalanx of finger ORPHA:2158
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Nance-Horan Syndrome
Short phalanx of finger, Broad finger OMIM:302350
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thumb, Preaxial hand ... ORPHA:1120
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... ORPHA:93259
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Septate vagina, Preaxial polydactyly, Hypoplastic pubi... OMIM:617925
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Clinodactyly, Failure to thrive, Short distal phalanx of finger, Brach... OMIM:614261
Smith-Magenis Syndrome
Pes planus, Broad palm, Increased body weight, Scoliosis, Short palm, Abnormal forearm morphology... OMIM:182290
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Peroneal muscle weakness, Hyperlordosis, Metatarsus adductus, Kyphosis, Peronea... OMIM:181405
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Short neck, Cryptorchidism, Drumstick terminal phalanges, Umbilical hernia, Failure to thrive, Br... OMIM:612938
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cryptorchidism, Spinal canal st... ORPHA:1724
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Craniosynostosis, Coxa valga, Postaxial hand polydactyly, Megarectum, Postaxi... OMIM:301056
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Fine hair, Thi... OMIM:614800
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Myhre Syndrome
Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Hypospadias, External genita... ORPHA:2588
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Ambiguous genitalia, Absent eyelashes, Hypoplas... OMIM:200110
Trisomy 20P
Micrognathia, Low anterior hairline, Reduced bone mineral density, Coarse hair, Finger syndactyly... ORPHA:261318
Oslam Syndrome
Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:2760
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300009
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1389
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Small for gestational age, Kyphosis, Cr... OMIM:610443
Oculodentodigital Dysplasia
Brittle hair, Micrognathia, Sparse hair, Clinodactyly of the 5th finger, Finger syndactyly, Short... ORPHA:2710
Kenny-Caffey Syndrome, Type 1
Delayed closure of the anterior fontanelle, Small hand, Short foot, Slender long bone, Short palm... OMIM:244460
Prader-Willi Syndrome
Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, External genita... OMIM:176270
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Arachnodactyly, Hypospadias, Short hallux, Highly arched eyebrow, Microg... ORPHA:280
Distal Deletion 10P
Abnormality of the elbow, Cleft palate, Ectopic anus, Clinodactyly of the 5th finger, Anal atresi... ORPHA:1580
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Hamamy Syndrome
Osteopenia, Micrognathia, Sparse hair, Clinodactyly of the 5th finger, Abnormal number of hair wh... OMIM:611174
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Myhre Syndrome
Vertebral fusion, Overlapping toe, Small for gestational age, Joint stiffness, Hypoplastic iliac ... OMIM:139210
Joubert Syndrome 14
Highly arched eyebrow, Renal cyst, Postaxial polydactyly OMIM:614424
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... OMIM:119600
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Contrac... OMIM:617527
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Metatarsus adductus, Cryptorchidism, Calcaneovalgus deformity, Hydronephrosis, Hy... OMIM:612513
Saethre-Chotzen Syndrome
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... ORPHA:794
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal... ORPHA:457284
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Low anterior hai... OMIM:614976
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Cryptorchidism, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Cachexia... ORPHA:85293
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Macs Syndrome
Joint laxity, Pes planus, Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crea... OMIM:613075
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Brachydactyly, Cachexia, Short palm ORPHA:3217
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist... ORPHA:73230
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Pes planus, Thick eyebrow, Joint dislocation, Sandal gap, Recurrent shoulder dislo... ORPHA:230851
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Micrognathia, Short neck, Kyphosis, Cryptorchidism, Scoliosis, Mesomel... OMIM:616894
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Three M Syndrome 2
Scapular winging, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly OMIM:612921
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... ORPHA:56305
Seckel Syndrome 1
Ivory epiphyses, 11 pairs of ribs, Sandal gap, Abnormal finger flexion crease, Single transverse ... OMIM:210600
Chromosome 17Q12 Duplication Syndrome
Micrognathia, Broad thumb, Brachydactyly OMIM:614526
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Failure to thrive, Recurrent fractures, Micrognathia, Hyperextensibility of the kn... OMIM:601812
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the patella, Short thumb, Aplasia/Hypoplasia of the... ORPHA:2909
Senior-Loken Syndrome 8
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron... OMIM:616307
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Synophrys, 2-3 toe syndactyly... OMIM:614701
Choanal Atresia
Tracheomalacia, Polydactyly, Craniosynostosis ORPHA:137914
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad thumb, Brachydactyly OMIM:617763
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Syndactyly, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of the 5th finger, Join... OMIM:618505
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Vertebral fusion, Pseudoepiphyses of the metacarpa... OMIM:194190
Cat-Eye Syndrome
Hip dysplasia, Anal atresia ORPHA:195
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly, Horseshoe kidney OMIM:617406
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal form of the verte... ORPHA:2021
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Fetal Encasement Syndrome
Upper limb undergrowth, Lower limb undergrowth OMIM:613630
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Precocious puberty, Coxa vara, Fine hair, Narrow pelvis bone, Joint hyperflexibility,... ORPHA:2637
Pfeiffer Syndrome Type 3
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Limitation o... ORPHA:93260
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido... ORPHA:1974
Acrocraniofacial Dysostosis
Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Abnormal form of the vertebral bodies... ORPHA:949
Lamb-Shaffer Syndrome
Micrognathia, Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Weill-Marchesani Syndrome 4
Joint stiffness, Brachydactyly OMIM:613195
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Small scrotum, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, Long eyel... OMIM:601353
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Flexion contracture, Tali... ORPHA:562528
Schisis Association
Congenital diaphragmatic hernia, Micromelia, Tracheoesophageal fistula, Cleft palate, Anal atresia ORPHA:63862
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Talipes equinovarus, Joint hypermobility, Camptodactyly OMIM:617333
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Syndactyly, Clinodactyly, Hirsutism OMIM:618087
Geleophysic Dysplasia 3
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Delayed skeletal maturation... OMIM:617809
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Highly arched eyebrow, Micrognathia, Bilateral cryptorchidism,... ORPHA:2754
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t... ORPHA:198
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Radio-Renal Syndrome
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... ORPHA:3015
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb, Cryptorchidism ORPHA:139471
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Kleefstra Syndrome 1
Hypospadias, Single transverse palmar crease, Cryptorchidism, Synophrys, Micropenis, Talipes equi... OMIM:610253
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Craniosynostosis, Bifid uterus, Supernumerary nipple, Abnormal reproductive system mo... ORPHA:1521
Ritscher-Schinzel Syndrome 1
Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Mis... OMIM:220210
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Hypospadias, Craniosynostosis, Precocious puberty, Cry... ORPHA:254346
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Polycystic kidney dys... OMIM:616546
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Hypertrichosis, S... OMIM:619479
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Kyphoscoliosis, Delayed skeletal maturation, Clinodactyly of the 5th finger, C... OMIM:620237
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Thick eyebrow, Sandal gap, Single transverse palmar crease, Tapered finger, Mic... OMIM:617061
Bohring-Opitz Syndrome
Joint dislocation, Micrognathia, Flexion contracture, Low anterior hairline, Vesicoureteral reflu... OMIM:605039
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Ankle clonus, Pes valgus, Scoliosis, Brachydactyly OMIM:619995
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Abnormality of the hand, Cryptorchidism, Abnormal foot morphology, Low anterior hairl... ORPHA:369891
Corneodermatoosseous Syndrome
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... ORPHA:3194
Fanconi Anemia, Complementation Group P
Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb OMIM:613951
Oculocerebrocutaneous Syndrome
Finger syndactyly, Alopecia, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the dista... ORPHA:1647
Triploidy
Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Ambiguous geni... ORPHA:3376
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Failure to thrive, Brachydactyly OMIM:618048
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Craniosynostosis, Cryptorchidism, Hydronephrosis, Brachydactyly ORPHA:457193
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibili... ORPHA:96169
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Fused cervic... OMIM:617159
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Preaxial hand polydactyly, Talipes equinovarus, Anal atresia OMIM:601389
Histidinuria Due To A Renal Tubular Defect
Short middle phalanx of finger, Rounded middle phalanx of finger OMIM:235830
Alkuraya-Kucinskas Syndrome
Small scrotum, Overlapping toe, Micrognathia, Abnormal foot morphology, Cutaneous syndactyly, Mic... OMIM:617822
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... OMIM:201750
Chand Syndrome
Curly hair, Short fifth metatarsal, Imperforate hymen, Hydroureter ORPHA:1401
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne... ORPHA:233
Weill-Marchesani Syndrome 1
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad palm, Spinal canal stenosis, Scoli... OMIM:277600
Au-Kline Syndrome
Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynos... OMIM:616580
Coffin-Siris Syndrome 7
Sparse scalp hair, Sagittal craniosynostosis, Clinodactyly of the 5th finger, Thick eyebrow, Brac... OMIM:618027
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... ORPHA:2311
Cranioectodermal Dysplasia 4
Sagittal craniosynostosis, Stage 5 chronic kidney disease, Hip dysplasia, Cutaneous finger syndac... OMIM:614378
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly ORPHA:508542
Craniofacioskeletal Syndrome
Absent gallbladder, Pes planus, Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic frontal si... OMIM:300712
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Cryptorchidism, ... OMIM:236700
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clinodactyly of t... ORPHA:1292
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Small scrotum, Highly arched eyebrow, Micrognathia, ... ORPHA:3253
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidney, Aplasia of... OMIM:617088
Faciocardiomelic Syndrome
Osteopenia, Dysharmonic bone age, Micrognathia, Large for gestational age, Cuboid-shaped vertebra... OMIM:612731
Frontorhiny
Encephalocele, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger... ORPHA:391474
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Postaxial polydactyly, Highly arched eyebrow, Trichiasis, Delayed closure o... OMIM:618460
Cinca Syndrome
Joint dislocation, Delayed closure of the anterior fontanelle, Abnormal joint morphology, Reduced... ORPHA:1451
Prune Belly Syndrome
Congenital hip dislocation, Xerostomia, Aplasia of the abdominal wall musculature, Talipes equino... OMIM:100100
Smith-Magenis Syndrome
Pes planus, Toe syndactyly, Failure to thrive in infancy, Joint stiffness, Micrognathia, Obesity,... ORPHA:819
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Prominent calcaneus, Ankle clonus, Congenital foot contractures ORPHA:565624
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Joubert Syndrome 30
Postaxial hand polydactyly OMIM:617622
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Colonic stenosis, Intussusception, Acute colitis ORPHA:90038
Holzgreve Syndrome
Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal morphology ORPHA:2167
Floating-Harbor Syndrome
Enlarged joints, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Sh... ORPHA:2044
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Thoracic kyphosis, Hyperm... ORPHA:508498
Vacterl Association With Hydrocephalus
Radial club hand, Anal atresia, Absent thumb OMIM:276950
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Mosaic Trisomy 1
Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis, Absent distal inter... ORPHA:1692
Curry-Jones Syndrome
Bicoronal synostosis, Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Intestinal mal... OMIM:601707
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Sandal gap, Broad hallux, Scarring alopecia of scalp, Clinodactyly, 3-4 toe syndac... OMIM:618727
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Failure to thrive, Aplasia/Hyp... OMIM:151050
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Short neck, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones, Bilateral sin... ORPHA:3191
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Congenital contracture, Micrognathia, Synophrys, Brachydactyly OMIM:620156
Classical Ehlers-Danlos Syndrome
Phalangeal dislocation, Hiatus hernia, Rectal prolapse, Osteoarthritis, Hip dislocation, Joint sw... ORPHA:287
Pallister-Hall Syndrome
Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi... ORPHA:672
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Esophageal stricture, Flexion contracture, Inflammati... ORPHA:2908
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Sparse hair, Clinodactyly ... ORPHA:2750
Down Syndrome
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Short neck, Decreased ferti... ORPHA:870
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndacty... OMIM:224690
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Short distal phalanx of finger OMIM:601355
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... OMIM:263520
Adams-Oliver Syndrome 5
Syndactyly, Dystrophic toenail, Brachydactyly OMIM:616028
Monosomy 18P
Alopecia, Micrognathia, Low posterior hairline, Brachydactyly ORPHA:1598
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Short neck, Missing ribs... OMIM:613686
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met... ORPHA:99646
Cree Mental Retardation Syndrome
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Micrognathia, Cry... OMIM:606851
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atresia, Cleft palat... OMIM:115470
Distal Deletion 9P
Hypoplastic labia majora, Hypospadias, Brachydactyly ORPHA:1642
Short Syndrome
Alopecia, Joint hyperflexibility, Short palm, Sparse hair, Brachydactyly ORPHA:3163
Cranioectodermal Dysplasia 1
Single transverse palmar crease, Tubulointerstitial nephritis, Sparse hair, Joint laxity, Rhizome... OMIM:218330
Cerebrooculonasal Syndrome
Sparse eyelashes, Craniosynostosis, Postaxial polydactyly, Sparse eyebrow, Postaxial hand polydac... OMIM:605627
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Alg8-Cdg
Small for gestational age, Talipes equinovarus, Camptodactyly, Failure to thrive, Brachydactyly ORPHA:79325
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Overlapping toe, Hypospadias, Highly arched eyebrow, Long fingers, Cryptorchidism, Syno... OMIM:618316
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Irregular menstruation, Facial palsy secon... OMIM:269500
Meckel Syndrome, Type 1
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, External ge... OMIM:249000
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Failure to thrive, Umbilical hernia, Large for gestational age OMIM:614520
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Pes pl... OMIM:213980
Microphthalmia, Syndromic 1
Syndactyly, Aganglionic megacolon, Down-sloping shoulders, Abnormal palmar dermatoglyphics, High,... OMIM:309800
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, B... ORPHA:97360
Carey-Fineman-Ziter Syndrome
Micrognathia, Aplasia of the pectoralis major muscle, Glandular hypospadias, Ulnar deviation of f... ORPHA:1358
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Renal hypop... OMIM:269860
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Abnormal foot morphology, Synophrys, Cutaneous finger syndactyly, Thick eyebrow OMIM:210745
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Congenital alopec... ORPHA:158687
15q26 overgrowth syndrome
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... DECIPHER:81
Acromelic Frontonasal Dysostosis
Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,... OMIM:603671
Methylcobalamin Deficiency Type Cble
Syndactyly, Osteoporosis, Scoliosis, Clinodactyly, Failure to thrive ORPHA:2169
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Thick hair, Tapered finger, Abnormal eyelash morph... ORPHA:193
Leprechaunism
Large hands, Skeletal muscle atrophy, Rectal prolapse, Megarectum ORPHA:508
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
3C Syndrome
Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Missing ribs, Hand polydactyly... ORPHA:7
Bresek Syndrome
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Renal hypoplasia, Vesicoureteral reflux, De... ORPHA:85284
Fanconi Anemia
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Micrognat... ORPHA:84
Sirenomelia
Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Anal atresia, Sirenomelia ORPHA:3169
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... ORPHA:261323
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Proximal phalangeal periosteal thickening, Clubbing, Bone pain, Osteolytic defects of the phalang... OMIM:161700
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crease, Rock... OMIM:272950
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Hypospadias, Supernumerary nipple, Tapered finger, Sparse eyebrow, Short thumb... ORPHA:477993
Radio-Tartaglia Syndrome
Pes planus, Thick eyebrow, Highly arched eyebrow, Tapered finger, Precocious puberty, Long eyebro... OMIM:619312
Renpenning Syndrome
Skeletal muscle atrophy, Abnormal thumb morphology, High, narrow palate, Cleft palate, Clinodacty... ORPHA:3242
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Renal ... ORPHA:75389
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Oligosacchariduria, Talipes equinovarus, Camptodactyly, Facial hypertrichosis, Clinodactyly, Brac... ORPHA:397709
Distal Deletion 13Q
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Anal atresia, Abnormal metacarpal morph... ORPHA:1590
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... OMIM:149730
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... ORPHA:3472
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Delayed skeletal maturation, Obesity, Brachydactyly OMIM:608624
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Cleft palate, Ectopic anus, Triphalan... ORPHA:2549
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s... ORPHA:96182
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,... ORPHA:887
Cerebrooculonasal Syndrome
Sparse eyebrow, Postaxial hand polydactyly, Hypoplasia of penis, Sparse eyelashes ORPHA:66625
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Short palm, Brachy... ORPHA:3339
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Neop... ORPHA:157794
Kabuki Syndrome 2
Joint laxity, Highly arched eyebrow, Micrognathia, Hip dislocation, Horseshoe kidney, Short 5th f... OMIM:300867
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Absent nipple, Cubitus valgus, Ureteral triplication, Hyd... OMIM:104350
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... OMIM:314390
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Decreased skull ossifica... ORPHA:955
Ellis Van Creveld Syndrome
Abnormal hair quantity, Hydroureter, Hypospadias, Micromelia, Abnormal hair morphology, Capitate-... ORPHA:289
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Joint stiffness, Abnormality of the male genitalia, Cry... ORPHA:847
Dandy-Walker Malformation With Postaxial Polydactyly
Postaxial hand polydactyly OMIM:220220
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Prominent metopic ridge, Small scrotum, Arachnodactyly, Long palm, Camptodacty... ORPHA:2215
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Micrognat... ORPHA:1908
Chops Syndrome
Curly hair, Thick hair, Cryptorchidism, Synophrys, Vesicoureteral reflux, Horseshoe kidney, Coars... OMIM:616368
Orofaciodigital Syndrome Xix
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Low posterior hai... OMIM:620107
Recombinant 8 Syndrome
Bilateral single transverse palmar creases, Camptodactyly of finger, Patellar aplasia, Cleft pala... ORPHA:96167
Saethre-Chotzen Syndrome
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... OMIM:101400
Tarsal Coalition
Tarsal synostosis OMIM:186850
Meckel Syndrome, Type 4
Bowing of the long bones, Bile duct proliferation, Postaxial hand polydactyly, Renal cyst OMIM:611134
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... OMIM:607143
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna... OMIM:268300
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the... ORPHA:1556
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... ORPHA:99413
Rapp-Hodgkin Syndrome
Syndactyly, Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebro... OMIM:129400
Mosaic Monosomy X
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... ORPHA:99228
Monosomy X
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... ORPHA:99226
Turner Syndrome
Osteopenia, Micrognathia, Ectopic kidney, Dermatoglyphic ridges abnormal, Reduced bone mineral de... ORPHA:881
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cryptorchidism, Ab... ORPHA:284160
Even-Plus Syndrome
Epiphyseal dysplasia, Dysplasia of the femoral head, High palate, Anal atresia OMIM:616854
Intellectual Developmental Disorder, Autosomal Dominant 57
Pes planus, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the ... OMIM:618050
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Prominent metopic ridge, Overlapping toe, Single transverse palmar crease, Hypospa... OMIM:619148
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus deformity, Nephrolithiasis,... ORPHA:521445
You-Hoover-Fong Syndrome
Clinodactyly, Kyphoscoliosis, Brachydactyly OMIM:616954
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Talipes equinovarus, Anal atresia, Dysphagia OMIM:617695
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab... OMIM:154400
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Abnormal foot morphology, Short distal phalanx of finger OMIM:609166
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Joint laxity, Urethral stricture, Hypospadias, Sagittal craniosynostosis, ... OMIM:617063
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Syndactyly, Short metacarpal, Scapular winging, Sparse scalp hair, Single transverse ... OMIM:150230
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Hypospadias, Micrognathia, Renal hypoplasia, Talipes equinovarus, Camptod... ORPHA:314679
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Broad hallux, Aganglionic megacolon, Cleft palate, Shortening of all distal phalan... OMIM:614749
Microphthalmia, Lenz Type
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal sh... ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryp... OMIM:617796
Marbach-Schaaf Neurodevelopmental Syndrome
Enuresis nocturna, Brachydactyly, Tapered finger OMIM:619680
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Abnormal pelvis bone morphology, Hydroureter, Camptodactyly of finger, ... ORPHA:2273
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Micrognathia, Sc... OMIM:616038
Mend Syndrome
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Kyph... OMIM:300960
Feingold Syndrome Type 1
Toe syndactyly, Jejunal atresia, Short middle phalanx of the 2nd finger, Esophageal atresia, Shor... ORPHA:391641
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Williams Syndrome
Colonic diverticula, Hallux valgus, Peptic ulcer, Down-sloping shoulders, Malabsorption, Abnormal... ORPHA:904
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Finger syndactyly, Broad hallux phalanx, Abnormal penis morphology, Hypospadias, P... ORPHA:2211
Miller-Dieker Lissencephaly Syndrome
Single transverse palmar crease, Micrognathia, Cryptorchidism, Deep palmar crease, Polydactyly, P... OMIM:247200
Kinsship Syndrome
Osteopenia, Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Synophrys, Hip... OMIM:619297
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Calcaneal epiphyseal stippling, Cervical kyphosis, Abnormal ossification inv... ORPHA:79345
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostos... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Joint laxity, Prominent metopic ridge, Postaxial polydactyly, Sagittal craniosynostos... ORPHA:352665
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Epispadias, Coxa vara, Clitoral hypoplasia, Short ... ORPHA:3107
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Metatarsus adductus, Short neck, E... ORPHA:584
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Prominent metopic ridge, Micrognathia, Polydactyly, Sparse lateral eyebrow ORPHA:314655
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Absent thumb OMIM:615272
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:95494
Fanconi Anemia, Complementation Group R
Radial dysplasia, Anal atresia, Absent thumb OMIM:617244
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Failure to thrive, Camptodactyly of finger, Multiple pterygia, Micrognathia, C... ORPHA:2990
Cat-Eye Syndrome (Type I)
Anal atresia DECIPHER:42
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, M... OMIM:250250
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... ORPHA:87
Oculodentodigital Dysplasia, Autosomal Recessive
Wide cranial sutures, Broad long bones, Fifth finger distal phalanx clinodactyly, Micrognathia, 4... OMIM:257850
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Postaxial hand polydactyly, Short sternum OMIM:258850
Prune Belly Syndrome
Congenital hip dislocation, Intestinal malrotation, Aplasia of the abdominal wall musculature, Ta... ORPHA:2970
Limb-Mammary Syndrome
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact... ORPHA:69085
Adnp Syndrome
Joint laxity, Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Urina... ORPHA:404448
Msh3-Related Attenuated Familial Adenomatous Polyposis
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... ORPHA:480536
Myoclonic-Astatic Epilepsy
Syndactyly, Frontal balding ORPHA:1942
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, External genital hypoplasia, Micrognathia, Flexion contracture, ... ORPHA:96334
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Cutaneous syndactyly, Ureteral agenesis OMIM:617667
Osteogenesis Imperfecta, Type Xvii
Bowed humerus, Thin long bone diaphyses, Thin metacarpal cortices, Hip dislocation OMIM:616507
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:180700
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Meningocele, Sclerosis of s... OMIM:130720
Fg Syndrome Type 1
Finger syndactyly, Limited elbow extension and supination, Broad toe, Progressive flexion contrac... ORPHA:93932
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Anterior pituitary hy... ORPHA:464306
Raine Syndrome
Bowing of the long bones, Increased bone mineral density, Hydroureter, Micromelia, Highly arched ... OMIM:259775
Limb Body Wall Complex
Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the upper limbs, C... ORPHA:2369
Thymic-Renal-Anal-Lung Dysplasia
Anal atresia OMIM:274265
Familial Congenital Mirror Movements
Fused cervical vertebrae, Hypogonadotropic hypogonadism ORPHA:238722
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Fused cervic... OMIM:157800
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... ORPHA:2751
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryptorchidism,... OMIM:603467
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Sparse scalp hair, Pes cavus, Overlapping toe, Single transverse palmar crease... ORPHA:464738
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Thick eyebrow, Small hand, Short foot, Micropenis, Thickened cortex of long bones, Br... ORPHA:488434
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Single transverse palmar crease, Tibial bowing, M... OMIM:269150
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Genu varum ORPHA:1969
Okur-Chung Neurodevelopmental Syndrome
Broad hallux, Single transverse palmar crease, Micrognathia, Scoliosis, Clinodactyly of the 5th f... OMIM:617062
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Equinovarus deformity, Equinus calcaneus, Decreased patellar reflex, Pes cavus ORPHA:746
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Hypospadias, Multicystic kidney dysplasia, Unilatera... OMIM:308205
Jacobsen Syndrome
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Intestinal malrotation, Pyloric stenosis... ORPHA:2308
Mosaic Trisomy 16
Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Large placen... ORPHA:1708
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Crypt... OMIM:227650
Acrocallosal Syndrome
Microretrognathia, Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, ... OMIM:200990
Monosomy 9Q22.3
Accelerated skeletal maturation, Palmar pits, Short neck, Kyphosis, Large for gestational age, Pl... ORPHA:77301
Fraser Syndrome 2
Rectal atresia, Intestinal malrotation, Anal atresia, Cutaneous syndactyly OMIM:617666
Constricting Bands, Congenital
Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus, Scoliosis OMIM:217100
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Anorectal anomaly, Tracheoesophageal fi... ORPHA:1834
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi... OMIM:203500
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Bi... OMIM:617746
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Cryptorchidism, Postaxial hand polydactyly, Supernumerary nipple, Micropenis ORPHA:2519
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Loeys-Dietz Syndrome 2
Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos... OMIM:610168
Meckel Syndrome, Type 6
Abnormal internal genitalia, Absent gallbladder, Postaxial hand polydactyly, Renal cyst, Horsesho... OMIM:612284
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Pes planus, Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Long eyelashes, Recu... OMIM:615877
Jacobsen Syndrome
Hypospadias, Micrognathia, Abnormal eyelash morphology, Cryptorchidism, Missing ribs, Flexion con... OMIM:147791
Monosomy 22
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Synophrys, Clubbing, C... ORPHA:96123
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Osteopenia, Hyperextensible thumb, Congenital hip dislocation, Overlapping toe, Jo... ORPHA:480880
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Abnormal metacarpal morphology, Umbilical hernia, Coronal craniosynosto... ORPHA:2095
Cystic Fibrosis
Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea ORPHA:586
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Female pseudohermaphroditism, Highly arched eyebrow, Ectopic kidney, Cryptorch... ORPHA:1519
Melnick-Needles Syndrome
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... OMIM:309350
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Progressive flexion contractures, Abnormal location of the eyebrow, Equinus calcane... ORPHA:522077
Myoectodermal Gonadal Dysgenesis Syndrome
Single transverse palmar crease, Elevated circulating luteinizing hormone level, Bifid distal pha... OMIM:618419
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Craniosynostosis, Cleft palate, Ectopic anus, High palate, Camptodact... ORPHA:251038
Meester-Loeys Syndrome
Joint dislocation, Pes planus, Arachnodactyly, Cervical spine instability, Broad distal phalanx o... OMIM:300989
Williams-Beuren Syndrome
Colonic diverticula, Hallux valgus, Down-sloping shoulders, Celiac disease, Rectal prolapse, Flex... OMIM:194050
Hydrolethalus
Cryptorchidism, Postaxial hand polydactyly, Micromelia, Abnormal fallopian tube morphology ORPHA:2189
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro... OMIM:613458
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Narrow greater sciatic notch, Short palm, Hypospadias, Cryptorchidism, Short greater ... OMIM:312870
Trisomy 12P
Clinodactyly of the 5th finger, Anal atresia, Large hands, Cleft palate ORPHA:1699
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617563
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Pes cavus, Preaxial polydactyly ORPHA:163681
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Joint hemorrhage, Short distal phalanx of finger OMIM:277450
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Short 2nd toe, ... OMIM:311200
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Overlapping toe, Hypospadias, Craniosynostosis, Tapered finger, Micrognathia, Cryptorchidism, Fle... OMIM:309590
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly, Failure to thrive OMIM:616430
Congenital Sialidosis Type 2
Polydactyly, Generalized hypertrichosis ORPHA:93400
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Osteolytic defects of the distal phalanges of the hand, Short ... ORPHA:50815
Genitopatellar Syndrome
Congenital hip dislocation, Small scrotum, Hypoplastic ischia, Micrognathia, Knee flexion contrac... OMIM:606170
White-Sutton Syndrome
Joint laxity, Micrognathia, Short neck, Obesity, Hypoplastic cervical vertebrae, Broad foot, Worm... OMIM:616364
Mgat2-Cdg
Osteopenia, Long eyelashes, Hypoplastic nipples, Hirsutism, Brachydactyly ORPHA:79329
Prader-Willi Syndrome Due To Translocation
Pes planus, Hypopigmentation of hair, Overlapping toe, Hypogonadotropic hypogonadism, Decreased r... ORPHA:177907
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Focal Facial Dermal Dysplasia Type Iii
Abnormal sacroiliac joint morphology, Anal atresia ORPHA:1807
Cdags Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Cleft palate, R... OMIM:603116
Macrodactyly
Macrodactyly OMIM:155500
Noonan Syndrome
Abnormal hair quantity, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Low posterio... ORPHA:648
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Sparse scalp hair, Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contracture, 3... OMIM:620029
Orofaciodigital Syndrome Type 3
Abnormality of hair texture, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxia... ORPHA:2752
Kid Syndrome
Sparse eyelashes, Coxa valga, Equinus calcaneus, Scarring alopecia of scalp, Sparse eyebrow, Pate... ORPHA:477
Rabson-Mendenhall Syndrome
Enlarged ovaries, Thick hair, Precocious puberty, Long penis, Low anterior hairline, Hirsutism, P... ORPHA:769
Barber-Say Syndrome
Absent nipple, Sparse eyelashes, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypoplastic labia ... OMIM:209885
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Premature thelarch... OMIM:180849
C Syndrome
Joint dislocation, Toe syndactyly, Bilateral single transverse palmar creases, Micromelia, Congen... ORPHA:1308
Orofaciodigital Syndrome Type 5
Ectopic accessory finger-like appendage, Postaxial hand polydactyly, Postaxial foot polydactyly, ... ORPHA:2919
Focal Facial Dermal Dysplasia 3, Setleis Type
Anal atresia OMIM:227260
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal... ORPHA:364577
Bloom Syndrome
Syndactyly, Decreased fertility in females, Cryptorchidism, Azoospermia, Hand polydactyly, Clinod... OMIM:210900
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... OMIM:192350
Mandibuloacral Dysplasia With Type B Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Abnormal fingertip morphology, Micrognathia, Osteolysis, Ost... ORPHA:90154
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... ORPHA:261344
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Short neck, Clinodactyly of the... ORPHA:1587
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Abnormal tibia morphology, Absent foot, Hip dis... ORPHA:93929
Timothy Syndrome
Cutaneous syndactyly OMIM:601005
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Scoliosis, Short neck OMIM:118100
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Microphthalmia, Syndromic 6
Finger syndactyly, Thumb contracture, Toe syndactyly, Small scrotum, Single transverse palmar cre... OMIM:607932
Craniosynostosis And Dental Anomalies
Hallux valgus, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3 toe syndacty... OMIM:614188
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Craniorachischisis
Congenital diaphragmatic hernia, Bifid sternum, Anal atresia, Sirenomelia ORPHA:63260
Monosomy 13Q34
Metrorrhagia, Postaxial hand polydactyly, Postaxial foot polydactyly, Horizontal eyebrow, Osteoch... ORPHA:96168
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Microretrognathia, Pes cavus, Hydroureter, Proportionate shortening of all digits, Tapered finger... ORPHA:280633
Pseudotrisomy 13 Syndrome
Cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot ... OMIM:264480
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Lon... ORPHA:521426
Maternal Phenylketonuria
Micrognathia, Bifid distal phalanx of the thumb, Clinodactyly, Bladder exstrophy, Brachydactyly ORPHA:2209
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Bifid uterus, Absen... OMIM:256520
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... ORPHA:447877
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Hydrocele testis, Foot polydactyly, Ovarian serous cystadenoma,... ORPHA:276280
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Pes planus, Thick eyebrow, Single transverse palmar crease, Dilatation of renal calices, Synophry... ORPHA:466950
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... OMIM:612852
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Intestinal malrotation, Sandal gap, Congenital diaphragmatic hernia, High palate,... OMIM:617602
Mandibuloacral Dysplasia With Type A Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Flexion contracture, Limitation of joint mobility, Osteolysi... ORPHA:90153
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Prominent fingertip pads, Anal atresia, Limb hypertonia OMIM:616875
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinodactyly, Pec... ORPHA:306542
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Joint stiffness, Micrognathia, Cryptorchidism, Uterus dide... OMIM:618820
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ureteropelvic junction obstruction, Highly arched eyebrow, Broad 2nd toe, Long foot, Palmoplantar... OMIM:280000
Camurati-Engelmann Disease
Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Coxa valga... ORPHA:1328
Alagille Syndrome 1
Hypoplasia of the ulna, Short distal phalanx of finger OMIM:118450
Cranioectodermal Dysplasia 2
Joint laxity, Syndactyly, Renal insufficiency, Rhizomelia, Sparse eyelashes, Craniosynostosis, Mi... OMIM:613610
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure... ORPHA:2907
Legius Syndrome
Nephrolithiasis, Ovarian neoplasm, Diaphyseal dysplasia, Polydactyly, Male urethral meatus stenos... ORPHA:137605
Elsahy-Waters Syndrome
Anal stenosis, Brachydactyly, Shortening of all phalanges of fingers, Anteriorly placed anus, Cut... OMIM:211380
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Hypospadias, Flexion contracture, Methylmalonic aciduria, 3-Methylglu... ORPHA:17
Aicardi Syndrome
Block vertebrae, Missing ribs, Small hand, Hip dysplasia, Scoliosis, Butterfly vertebrae ORPHA:50
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Xp22.3 Microdeletion Syndrome
Ectopic anus ORPHA:1643
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Ect... ORPHA:2059
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Small for gestational age OMIM:224120
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Oculodentodigital Dysplasia
Dry hair, Neurogenic bladder, Slow-growing hair, 4-5 finger syndactyly, Hip dislocation, Fine hai... OMIM:164200
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Spina bifida, Hemivertebrae, Scoliosi... OMIM:304050
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Prominent fingertip pads, Anal atresia, Limb hypertonia ORPHA:480898
Down Syndrome
Joint laxity, Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Atlantoaxial i... OMIM:190685
Ayme-Gripp Syndrome
Sparse scalp hair, Delayed cranial suture closure, Tapered finger, Radioulnar synostosis, Nail dy... OMIM:601088
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Short ribs, Supernume... OMIM:271520
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Wormian bones, Hypospadias, Decreased response to growth hormone stimulation test, Hi... ORPHA:444077
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Sparse eyelashes, Supernumerary nipple, Micrognathia, Sparse eyebrow, Coarse h... ORPHA:1071
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Intestinal malrotation, Anal atresia ORPHA:2973
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Arnold-Chiari Malformation Type I
Stiff neck, Abnormality of the musculature of the lower limbs, Areflexia of upper limbs, Myelopat... ORPHA:268882
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... OMIM:619727
Lacrimoauriculodentodigital Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... ORPHA:2363
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Noonan Syndrome 1
Male infertility, Hypospadias, Micrognathia, Cryptorchidism, Woolly hair, Synovitis, Low posterio... OMIM:163950
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Goiter, Bone cyst,... ORPHA:201
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Pes planus, Broad hallux, Sandal gap, Decreased response to growth hormone stimulat... OMIM:615873
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Persistent open anterior fontanelle, Pelvic bone exostos... OMIM:304150
Developmental And Epileptic Encephalopathy 100
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Synophrys, Elbow flexion ... OMIM:619777
Acrocephalopolydactylous Dysplasia
Pancreatic fibrosis, Craniosynostosis, Micromelia, Postaxial hand polydactyly, Cystic renal dyspl... OMIM:200995
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Micrognathia, Hypoplasi... OMIM:122470
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Hypospadias, Decreased response to growth hormone stimulation test, Premature thel... ORPHA:268261
Charge Syndrome
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... OMIM:214800
Coach Syndrome 1
Unilateral renal agenesis, Postaxial hand polydactyly, Multiple small medullary renal cysts, Stag... OMIM:216360
Toriello-Carey Syndrome
Micrognathia, Sparse eyebrow, Cryptorchidism, Clinodactyly, Brachydactyly ORPHA:3338
Marfan Syndrome
Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Genu re... OMIM:154700
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Rocker bottom foot, Short 2nd toe, Hip dysplasia, High palate, Clinodactyly of the 5th... OMIM:612582
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Hydroureter, Supernumerary nipple, Unilateral renal agenesis, Cryptorchidism, El... OMIM:619194
Degcags Syndrome
Osteopenia, Micrognathia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature... OMIM:619488
Lathosterolosis
Hypoplasia of penis, Toe syndactyly, Prominent metopic ridge, Postaxial hand polydactyly, Horsesh... ORPHA:46059
Bladder Exstrophy
Intestinal malrotation, Abnormality of the anus ORPHA:93930
Incontinentia Pigmenti
Finger syndactyly, Alopecia, Camptodactyly of finger, Supernumerary nipple, Abnormal hair morphol... ORPHA:464
Primary Ciliary Dyskinesia
Male infertility, Clubbing, Abnormal sperm motility, Female infertility ORPHA:244
Neurocardiofaciodigital Syndrome
Syndactyly, Sparse eyebrow, Vesicoureteral reflux, Polydactyly, Sparse hair OMIM:619869
Chime Syndrome
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... ORPHA:3474
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... ORPHA:90797
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Ca... ORPHA:363958
Arboleda-Tham Syndrome
Microretrognathia, Pes planus, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, ... OMIM:616268
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Postaxial hand polydactyly, Pancreatic lymphangiectasis, Abnormality of the uteru... ORPHA:1655
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius ORPHA:140952
1P36 Deletion Syndrome
Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Generalized hirsutism, Hypospadi... ORPHA:1606
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Arachnodactyly, Intestinal malrotation, Facial palsy, Delayed closure of the anter... OMIM:300373
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Shortening of all distal phalanges of the fingers, Anal stenosis, Aganglionic megacolon, Cleft pa... OMIM:614207
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Talipes eq... OMIM:620025
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Postaxial hand polydactyly, Pancreatic lymphangiectasis, Micropenis, Hydronephros... OMIM:235255
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Pancreatic cysts, Stage 5 chronic kidney disease, Postaxial foot po... OMIM:267010
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Male urethral... OMIM:613406
Lathosterolosis
Toe syndactyly, Bilobate gallbladder, Postaxial hand polydactyly, Osteoporosis, Horseshoe kidney,... OMIM:607330
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Single transverse palmar crease, Micrognathia, Short neck, Clinodactyly of the 5th finger, Promin... OMIM:612474
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Pes planus, Single transverse palmar crease, Dilatation of renal calices, Synophrys, Pes valgus, ... ORPHA:466943
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Decreased testicular size, Pes planus, Small scrotum, Hypospadias, Tapered finger, Micrognathia, ... OMIM:309580
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Arachnodactyly, Single transverse palmar crease, Overlapping toe, Micrognathia, Contracture of th... ORPHA:83617
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn... ORPHA:249
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Velopharyngeal insufficiency, Overlapping toe, Anal atresia, Camptodactyly ORPHA:363444
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anteri... ORPHA:199
Adams-Oliver Syndrome 1
Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Imperforate hymen, Brachydac... OMIM:100300
Emanuel Syndrome
Torticollis, Congenital hip dislocation, Intestinal malrotation, Congenital diaphragmatic hernia,... OMIM:609029
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Micrognathia, Preaxial hand polydactyly,... ORPHA:93271
Bladder Exstrophy And Epispadias Complex
Anteriorly placed anus, Abnormal pelvic girdle bone morphology OMIM:600057
Hereditary Cryohydrocytosis With Reduced Stomatin
Short neck, Brachydactyly ORPHA:168577
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Toe syndactyly, Single transverse palmar crease, Craniosynostosis, 4-5 toe syndactyly, 3-5 toe sy... OMIM:300707
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Vacterl With Hydrocephalus
Absence of the sacrum, Hypoplasia of the radius, Hip dislocation, Micrognathia ORPHA:3412
Holoprosencephaly
Encephalocele, Failure to thrive in infancy, Talipes, Short neck, Cryptorchidism, Abnormal form o... ORPHA:2162
Stromme Syndrome
Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis, Micrognathia OMIM:243605
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Talipes, Highly arched eyebrow, Cryptorchidism, Abn... ORPHA:138
Kleefstra Syndrome Due To A Point Mutation
Gastroesophageal reflux, Anal atresia, Tapered finger ORPHA:261652
Diamond-Blackfan Anemia 1
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... OMIM:105650
Joubert Syndrome 2
Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Nephrono... OMIM:608091
Mullegama-Klein-Martinez Syndrome
Pes planus, Micrognathia, Polydactyly, Scoliosis, Clinodactyly of the 5th finger, Failure to thrive OMIM:301022
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... ORPHA:90793
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac... ORPHA:89842
Dubowitz Syndrome
Syndactyly, Sparse scalp hair, Pes planus, Hypospadias, Single transverse palmar crease, Microgna... OMIM:223370
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Congenital diaphragmatic hernia, Anal atresia, Cleft palate ORPHA:95706
Joubert Syndrome 1
Highly arched eyebrow, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Nephro... OMIM:213300
Monosomy 9P
Hypospadias, Proximal placement of thumb, Highly arched eyebrow, Abnormality of the tarsal bones,... ORPHA:261112
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Myelomeningocele, Short long ... OMIM:306955
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Cryptorchidism, Hemivertebrae, But... OMIM:206900
Meckel Syndrome
Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, True hermaphroditis... ORPHA:564
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse p... OMIM:181270
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Congenital diaphragmatic hernia, Cleft palate, High palate, Gastroesophageal reflu... OMIM:614080
Pgm3-Cdg
Decreased/absent ankle reflexes, Osteomyelitis, Membranoproliferative glomerulonephritis, Brachyd... ORPHA:443811
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Hypospadias, Micrognathia, Cryptorchidism, Widow's peak, Vesicoureteral reflux, Renal... OMIM:616975
Proteus Syndrome
Abnormal finger morphology, Renal cyst, Clinodactyly of the 5th finger, Abnormality of the wrist,... ORPHA:744
Distal Deletion 3P
Clinodactyly of the 5th finger, Cryptorchidism, Postaxial hand polydactyly ORPHA:1620
Trisomy 18
Camptodactyly of finger, Cryptorchidism, Postaxial hand polydactyly, Deviation of finger, Narrow ... ORPHA:3380
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty... OMIM:270400
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Fraser Syndrome 1
Abnormal small intestine morphology, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the p... OMIM:219000
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... OMIM:219800
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Malabsorption, Flexion contracture, Neoplasm o... ORPHA:144
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Proximal placement of thumb, Rocker bottom foot, S... OMIM:229850
Orofaciodigital Syndrome Xiv
Microretrognathia, Broad hallux, Micrognathia, Epispadias, Postaxial hand polydactyly, Cryptorchi... OMIM:615948
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Vesicoureteral reflux, Joint laxity, Syndactyly, Broad hallux, Hypospadias, Highly ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Vesicoureteral reflux, Joint laxity, Syndactyly, Broad hallux, Hypospadias, Highly ... ORPHA:353277
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Syndactyly, Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Postaxial... OMIM:619534
Okamoto Syndrome
Prominent metopic ridge, Talipes, Urinary incontinence, Bifid uterus, Extension of hair growth on... ORPHA:2729
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Ambiguous genitalia... ORPHA:2166
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Aplastic clavicle, Delayed cranial suture closure, Cleft palate, Ectopic anus,... ORPHA:85199
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Malabsorption, Hepatocellular carcinoma, Flexion contracture, Neopla... ORPHA:440437
Coffin-Siris Syndrome 12
Joint laxity, Sparse scalp hair, Hypospadias, Delayed cranial suture closure, Highly arched eyebr... OMIM:619325
Cerebrocostomandibular Syndrome
Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s... OMIM:117650
Chromosome 1P36 Deletion Syndrome, Distal
Brachydactyly, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus ad... OMIM:607872
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Hypospadias, Micr... ORPHA:709
Fanconi Anemia, Complementation Group L
Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bilater... OMIM:614083
Fontaine Progeroid Syndrome
Syndactyly, Sparse scalp hair, Small scrotum, Absent nipple, Craniosynostosis, Micrognathia, Cryp... OMIM:612289
Cardiofaciocutaneous Syndrome
Abnormal morphology of ulna, Genu valgum, Deep palmar crease, Palmoplantar keratoderma, Cubitus v... ORPHA:1340
Doors Syndrome
11 pairs of ribs, Increased urine alpha-ketoglutarate concentration, Ambiguous genitalia, Adrenal... ORPHA:79500
Microphthalmia With Linear Skin Defects Syndrome
Abnormal rectum morphology, Congenital diaphragmatic hernia, Abnormality of the anus ORPHA:2556
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Neoplasm of the gas... ORPHA:524
Joubert Syndrome With Hepatic Defect
Renal insufficiency, Multicystic kidney dysplasia, Highly arched eyebrow, Postaxial hand polydact... ORPHA:1454
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Anal atresia, Rectovaginal fistula, Intestinal malrotation, Cleft palate OMIM:270420
Iniencephaly
Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Talipes equinovarus, Arthrogrypo... ORPHA:63259
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Immunodeficiency 40
Focal active colitis, Rectal fistula OMIM:616433
Orofaciodigital Syndrome Type 14
Broad hallux, Deviation of the hallux, Bilateral cryptorchidism, Epispadias, Postaxial hand polyd... ORPHA:434179
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn... OMIM:601803
Hydrolethalus Syndrome 1
Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... OMIM:236680
Arima Syndrome
Proteinuria, Polyuria, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxial foot... OMIM:243910
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Craniosynostosis, Ectopic kidne... ORPHA:2136
Nijmegen Breakage Syndrome
Anal stenosis, Sandal gap, Rhabdomyosarcoma, 2-3 toe syndactyly, Cleft palate, Recurrent infectio... OMIM:251260
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the pelvis, Anal atresia ORPHA:3301
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Small scrotum, Hypospadias, Abnormal hair... ORPHA:2052
Spermatogenic Failure 14
Abnormal prolactin level, Azoospermia, Elevated circulating follicle stimulating hormone level, M... OMIM:615842
Diphallia
Abnormality of the gastrointestinal tract, Rectoperineal fistula, Absent thumb, Gastrointestinal ... ORPHA:227
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Renal Agenesis
Talipes equinovarus, Anal atresia ORPHA:411709
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesicouretera... ORPHA:261537
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Rectovaginal fistula, Cervical C2/C3 ... ORPHA:1780
Penile Agenesis
Rectal fistula, Anorectal anomaly, Tracheoesophageal fistula, Bilateral talipes equinovarus, Anal... ORPHA:49
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Loeys-Dietz Syndrome 1
Joint laxity, Arachnodactyly, Craniosynostosis, Postaxial hand polydactyly, Talipes equinovarus, ... OMIM:609192
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Mowat-Wilson Syndrome
Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesicouretera... ORPHA:2152
Townes-Brocks Syndrome
Broad hallux phalanx, Rectoperineal fistula, Toe syndactyly, Preaxial hand polydactyly, Partial d... ORPHA:857
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Oeis Complex
Congenital hip dislocation, Intestinal malrotation, Anteriorly placed anus, Rectovaginal fistula,... OMIM:258040
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Stippled calcification of th... ORPHA:51608
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Calcaneovalgus deformity, Flexion contracture, Vesicouretera... ORPHA:261552
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Oligozo... ORPHA:85450
Distal 22Q11.2 Microduplication Syndrome
Toe syndactyly, Camptodactyly of finger, Tapered finger, Macroglossia, High palate, Camptodactyly... ORPHA:261337
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go... ORPHA:293987
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Crohn's disease, Anal fissure, Ulcerative colitis OMIM:618935
Craniofacial Microsomia 1
Occipital encephalocele, Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hem... OMIM:164210
Linear Skin Defects With Multiple Congenital Anomalies 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed... OMIM:309801
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis ORPHA:2717
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria ORPHA:2239
46,Xy Sex Reversal 4
Anal atresia, Distal symphalangism, High palate, Cleft palate OMIM:154230
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Small scrotum, Sandal gap, Long fingers, Cutaneous syndactyly, Toe clinodactyly, Hy... OMIM:620330
Sacral Defect With Anterior Meningocele
Rectal abscess, Bilateral talipes equinovarus OMIM:600145
Currarino Syndrome
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Rectovaginal fistula, Anal fistula... OMIM:176450
Tetraamelia Syndrome 1
Anal atresia, Congenital diaphragmatic hernia, Hypoplastic pelvis, Cleft palate OMIM:273395
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia involving bones of the hand, Absent foot, Hig... ORPHA:96176
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Pancreatic insufficiency, combined exocrine
Anal atresia OMIM:260450
Kabuki Syndrome 1
Joint dislocation, Anal stenosis, Congenital hip dislocation, Intestinal malrotation, Malabsorpti... OMIM:147920
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Palmoplantar hyperkeratosis, Dysphagia, Oral leukoplakia OMIM:173650
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal abscess, Intesti... ORPHA:436252
Townes-Brocks Syndrome 2
Rectovaginal fistula, Anal atresia OMIM:617466
Manitoba Oculotrichoanal Syndrome
Anteriorly placed anus, Anal stenosis OMIM:248450
Renpenning Syndrome 1
Cleft palate, Camptodactyly, High palate, Synostosis of the proximal phalanx of the thumb with th... OMIM:309500
Malakoplakia
Neoplasm of the rectum, Neoplasm of the colon ORPHA:556
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy, Recurrent gastroenteritis, Anal fissure, Perianal dermatitis ORPHA:294023
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Abn... ORPHA:95455
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Anal fissure, Flexion contracture, Dysphagia, Gastrointestinal inflammati... ORPHA:79408
Sacral Agenesis With Vertebral Anomalies
Anal atresia, Persistent cloaca OMIM:615709
Aspartylglucosaminuria
Arthritis, Abnormal morphology of ulna ORPHA:93
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Rectal abscess OMIM:608203
Duplication Of Urethra
Rectourethral fistula, Anal fistula, Anal atresia, Anorectal anomaly ORPHA:237
Lumbar Syndrome
Ectopic anus, Anal atresia ORPHA:83628
Leukocyte Adhesion Deficiency, Type I
Rectal abscess OMIM:116920
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess OMIM:601495
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Rectal abscess OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Rectal abscess OMIM:306400
Johanson-Blizzard Syndrome
Colonic diverticula, Single transverse palmar crease, Malabsorption, Anteriorly placed anus, Rect... OMIM:243800
Carney Complex
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellular carcinoma, T... ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hoxd13

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hoxd13.

No publications found that use IMPC mice or data for Hoxd13.

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MGI Allele Allele Type Produced
Hoxd13tm413660(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hoxd13tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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