Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
beta-3-glucosyltransferase
Synonyms:
LOC381694,  B3galtl

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 B3glct mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to B3glct by orthology or direct annotation.

The table below shows human diseases predicted to be associated to B3glct by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Achard Syndrome
Joint laxity, Broad skull, Micrognathia, Arachnodactyly, Brachycephaly OMIM:100700
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Microcephaly 4, Primary, Autosomal Recessive
Thick eyebrow, Hypertelorism, Micrognathia, Synophrys OMIM:604321
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Dolichocephaly, Micrognathia, Dandy-Walker malformation, Frontal bossing, Orbital craniosynostosi... ORPHA:1538
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Contracture of the pro... OMIM:186000
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Trigonocephaly, Craniosynostosis, Clinodactyly, Delayed eruption of ... OMIM:614188
Sclerosteosis 2
Nail dysplasia, Frontal bossing, Cutaneous finger syndactyly, Short finger, Mandibular prognathia... OMIM:614305
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Ventriculomegaly, Micrognathia, Microcephaly, Adducted thumb, Frontal bossing, Synophrys, Hyperte... ORPHA:3207
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Trigonocephaly, Dolichocephaly, Ventriculomegaly, Midface retrusion, Mandibular p... ORPHA:168624
Muenke Syndrome
Brachydactyly, Clinodactyly, Plagiocephaly, Thimble-shaped middle phalanges of hand, Hyperteloris... OMIM:602849
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thin eyebrow, Tapered finger, High anterior hairline, Macrocephaly, Hypertelorism, Narrow jaw OMIM:618147
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Oxycephaly, Ulnar deviation of the hand or of fingers... OMIM:201020
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Narrow face, Cone-shaped epiphysis, Microcephaly, Mandibular prognathi... ORPHA:2511
Pycnodysostosis
Brachydactyly, Prominent occiput, Wormian bones, Abnormality of pelvic girdle bone morphology, In... OMIM:265800
Phenobarbital Embryopathy
Brachydactyly, Aplasia/Hypoplasia of the nails, Aplasia/Hypoplasia of fingers, Microcephaly, Mala... ORPHA:1919
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Macrocephaly, Postaxial hand polydactyly, Ventriculomegaly, Hydrocephalus OMIM:615938
Weill-Marchesani Syndrome 1
Brachydactyly, Joint stiffness, Shallow orbits, Broad palm, Broad skull, Hypoplasia of the maxill... OMIM:277600
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Metopic synostosis, Camptodactyly of toe, Macrocephaly, Broad hall... OMIM:175700
Codas Syndrome
Delayed ossification of carpal bones, Delayed eruption of teeth, Absent epiphyses, Enamel hypopla... OMIM:600373
Temtamy Syndrome
Brachydactyly, Genu varum, Hypertelorism, Dolichocephaly, Clinodactyly of the 5th finger, Microgn... ORPHA:1777
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Ap... OMIM:113000
Multiple Synostoses Syndrome
Brachydactyly, Abnormality of the nail, Symphalangism affecting the phalanges of the hand, Joint ... ORPHA:3237
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Syndactyly, Short thumb, Micrognathia, Highly arched eyebrow, Arachn... OMIM:600325
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb, Micrognathia... ORPHA:3098
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly, Dolichocephaly, Relative macrocephaly, Mandibular prognathia, Macrocephaly, Long face OMIM:617169
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Cranioectodermal Dysplasia
Brachydactyly, Hypotelorism, Prominent occiput, Craniosynostosis, Finger syndactyly, Dolichocepha... ORPHA:1515
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips, Microcephaly, Clinodac... OMIM:211369
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Deeply set eye, Hypertelorism, Tarsal osteovalgus, Midface retrusion, Adducted thu... OMIM:614257
Gombo Syndrome
Brachydactyly, Clinodactyly, Microcephaly, Radial deviation of finger OMIM:233270
Camptosynpolydactyly, Complex
Small nail, Cutaneous syndactyly, Nail dysplasia, Polydactyly, Toenail dysplasia, Camptodactyly, ... OMIM:607539
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Macrocephaly, Postaxial hand polydactyly, Ventriculomegaly, Hydrocephalus OMIM:615937
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Synophrys, Hypertelorism, Abnormal facial shape OMIM:612001
Weill-Marchesani Syndrome 2
Brachydactyly, Joint stiffness, Shallow orbits, Short metacarpal, Broad palm, Broad skull, Hypopl... OMIM:608328
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Dolichocephaly, Clinodactyly of the 5th finger, Micrognathia, Frontal bossing, ... ORPHA:1516
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Wormian bones, Osteoporosis, Microcephaly, Short distal phalanx of finger, Frontal... ORPHA:2787
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Short femoral neck, Limited hip exte... OMIM:100800
Thiemann Disease, Familial Form
Brachydactyly, Abnormality of the metaphysis, Limitation of joint mobility, Abnormality of epiphy... ORPHA:3314
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Hypertelorism, Micrognathia, Midface retrusion OMIM:611913
Craniosynostosis 3
Brachydactyly, Single transverse palmar crease, Right unicoronal synostosis, Left unicoronal syno... OMIM:615314
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Toe syndactyly, Craniosynostosis, Finger syndactyly, Postaxial foot polydactyly, F... ORPHA:380
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density, Brachycephaly, Hypertelorism, Thickened calvari... ORPHA:178377
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Muenke Syndrome
Hydrocephalus, Plagiocephaly, Carpal synostosis, Hypopigmentation of hair, Short palm, Coronal cr... ORPHA:53271
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... OMIM:611702
Cornelia De Lange Syndrome 2
Brachydactyly, Clinodactyly, Long eyelashes, Thick eyebrow, Ventriculomegaly, Micrognathia, Highl... OMIM:300590
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, 2-3 toe syndactyly, Broad meta... ORPHA:1540
20Q11.2 Microdeletion Syndrome
Brachydactyly, Deeply set eye, Hypertelorism, Midface retrusion, Adducted thumb, Frontal bossing,... ORPHA:444051
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Shallow orbits, Flat face, Small face, Broad hallux, Oxycephaly, Hypoplasia of ... OMIM:101120
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... OMIM:112700
1Q21.1 Microduplication Syndrome
Hypertelorism, Frontal bossing, Arthrogryposis multiplex congenita, Hydrocephalus, Macrocephaly, ... ORPHA:250994
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Recurrent fractures, Hypertelorism, Single transverse palmar crease, 2-3 toe syndacty... ORPHA:2324
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Hypertelorism, Midface retrusion, Brachycephaly, Metacarpal synostosis, Proptosis ORPHA:35099
Summitt Syndrome
Brachydactyly, Plagiocephaly, Craniosynostosis, Finger syndactyly, Short palm, Prominent metopic ... ORPHA:3210
Monosomy 5P
Hypertelorism, Recurrent fractures, Finger syndactyly, Microretrognathia, Round face, Small hand,... ORPHA:281
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Thick eyebrow, Micrognathia, Frontal bossing, ... ORPHA:1278
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Charlie M Syndrome
Brachydactyly, Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal toenail morphology, M... ORPHA:1406
Ayme-Gripp Syndrome
Brachydactyly, Hypertelorism, Craniofacial asymmetry, Flat face, Tapered finger, Broad eyebrow, R... OMIM:601088
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Brachydactyly, Deeply set eye, Long eyelashes, Clinodactyly of the 5th finger, Thick eyebrow, Ven... OMIM:618381
Keipert Syndrome
Brachydactyly, Clinodactyly, Broad hallux, Midface retrusion, Broad distal phalanx of finger, Bro... OMIM:301026
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Elbow flexion contracture, Dolichocephaly, Flared metaphysis, Mi... OMIM:601561
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Hypertelorism, Fibular hypoplasia, Dislocated radial head, Rh... ORPHA:166016
Tetrasomy X
Brachydactyly, Hypertelorism, Clinodactyly of the 5th finger, Radioulnar synostosis, Joint hyperf... ORPHA:9
Megalencephaly, Autosomal Dominant
Macrocephaly, Hydrocephalus OMIM:155350
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Short middle ph... ORPHA:1453
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Catel-Manzke Syndrome
Joint stiffness, Metatarsus valgus, Abnormality of epiphysis morphology, Hypertelorism, Clinodact... ORPHA:1388
Weaver Syndrome
Joint stiffness, Hypertelorism, Finger syndactyly, Hypoplastic toenails, Sandal gap, Broad thumb,... ORPHA:3447
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Clinodactyly, Unilambdoid synostosis, Plagiocephaly, Long eyelashes, Ventriculomegaly, Micrognath... OMIM:618577
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Toe clinodactyly, 2-3 toe syndactyly, Long toe, Aplasia/Hypoplasia of the nails, Rocker bottom fo... ORPHA:163979
Craniofrontonasal Dysplasia
Widow's peak, Woolly hair, Sandal gap, Clinodactyly of the 5th finger, Microcephaly, Ridged finge... ORPHA:1520
Coloboma Of Macula-Brachydactyly Type B Syndrome
Absent fingernail, Type B brachydactyly, Short distal phalanx of finger, Fingernail dysplasia, Br... ORPHA:1471
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Hypotelorism, Single transverse palmar crease, Patellar hypoplasia, Osteopenia, Sh... OMIM:211920
Greenberg Dysplasia
Brachydactyly, Anterior rib punctate calcifications, Abnormal pelvis bone ossification, Rhizomeli... ORPHA:1426
Cleidocranial Dysplasia
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... ORPHA:1452
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Coronal craniosynostosis, Flat face, Short metacarpal, Micrognathia, Short toe, Ge... OMIM:614078
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Abnormality of femoral epiphysis, Ir... ORPHA:750
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Plagiocephaly, Small nail, Short met... OMIM:618853
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Mesomelia, Micrognathia, Abnormal shoulder morphology ORPHA:1277
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Hypertelorism, Dolichocephaly, Toe clinodactyly, Upper limb undergrowth, Pathologi... ORPHA:166277
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Trigonocephaly, Craniosynostosis, Hypertelorism, Hypoplastic toenails, Sparse eyebrow, Micrognath... OMIM:616901
Developmental And Epileptic Encephalopathy 36
Flexion contracture, Microcephaly, Hydrocephalus, Hypertelorism, Abnormal facial shape OMIM:300884
Sugarman Brachydactyly
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Knee joint hypermobility, Hydrocephalus, Hip joi... ORPHA:15
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Odontochondrodysplasia 1
Genu varum, Delayed ossification of carpal bones, Narrow face, Osteoporosis, Micromelia, Metaphys... OMIM:184260
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Microcephaly, Hydrocephalus, Macrocephaly, Abnormal facial shape OMIM:618709
Waardenburg Syndrome, Type 3
Brachydactyly, Clinodactyly, Carpal synostosis, Premature graying of hair, Heterochromia iridis, ... OMIM:148820
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Ankylosis, Camptodactyly... OMIM:615170
Shashi-Pena Syndrome
Osteoporosis, Ventriculomegaly, Highly arched eyebrow, Deep palmar crease, Retrognathia, Long fac... OMIM:617190
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Hypertelorism, Thickened... OMIM:616331
Alexander Disease
Increased CSF protein, Progressive macrocephaly, Hydrocephalus OMIM:203450
Albers-Schönberg Osteopetrosis
Recurrent fractures, Abnormality of epiphysis morphology, Carious teeth, Osteoarthritis, Generali... ORPHA:53
Neu-Laxova Syndrome 2
Rocker bottom foot, Microcephaly, Hypertelorism, Micrognathia OMIM:616038
Delayed Membranous Cranial Ossification
Prominent occiput, Decreased skull ossification, Midface retrusion, Frontal bossing, Hypertelorism ORPHA:3034
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Wormian bones, Osteopenia, Delayed eruption of teeth, Micrognathia, Midface retrus... OMIM:601812
Cutis Laxa, Autosomal Recessive, Type Iib
Bowing of the long bones, Hypotelorism, Deeply set eye, Triangular face, Osteopenia, Congenital h... OMIM:612940
Cole-Carpenter Syndrome 2
Triangular face, Narrow iliac wing, Lambdoidal craniosynostosis, Wormian bones, Osteopenia, Hyper... OMIM:616294
Intellectual Developmental Disorder, Autosomal Recessive 33
Abnormal facial shape, Short toe, Syndactyly OMIM:614341
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Terminal Osseous Dysplasia
Brachydactyly, Abnormality of skin pigmentation, Toe clinodactyly, Multiple joint contractures, A... OMIM:300244
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, S... OMIM:185900
Camptodactyly Syndrome, Guadalajara Type 1
Narrow face, Abnormality of dental eruption, Highly arched eyebrow, Microcephaly, Spina bifida, M... ORPHA:1327
Anauxetic Dysplasia 2
Brachydactyly, Small nail, Coxa valga, Flexion contracture, Hypoplasia of the femoral head, Short... OMIM:617396
Rubinstein-Taybi Syndrome 2
Long eyelashes, Carious teeth, Broad hallux, Micrognathia, Retrognathia, Broad thumb, Dental malo... OMIM:613684
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Craniodigital-Intellectual Disability Syndrome
Generalized hirsutism, Finger syndactyly, Long eyelashes, Thick eyebrow, Abnormal hair pattern, M... ORPHA:1514
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Hypertelorism, Long eyelashes, Relative macrocephaly, Micrognathia, ... OMIM:618529
Trichothiodystrophy 9, Nonphotosensitive
Brachydactyly, Joint laxity, Sparse eyebrow, Sparse hair, Nail dystrophy, Dental malocclusion, Ti... OMIM:619692
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Micromelia, Microcephaly, Thin calvarium, Limb undergrowth, Brachycephaly, Massive... OMIM:122900
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Microcephaly, Short middle phalanx of finger, Abnorma... ORPHA:391646
Symphalangism, Distal
Brachydactyly, Small nail, Craniosynostosis, Anonychia, Distal symphalangism of hands, Absent dor... OMIM:185700
Craniofacial-Deafness-Hand Syndrome
Flat face, Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand or of fingers... OMIM:122880
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Triangular face, Sandal gap, Overlapping fingers, Tapered finger, Br... OMIM:618435
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Plagiocephaly, Carpal synostosis, Clinodactyly, Hitchhiker thumb, Short metacarpal... OMIM:605282
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Osteoporosis, Short 1st metac... OMIM:251450
Craniosynostosis 2
Brachydactyly, Hypotelorism, Craniosynostosis, Triphalangeal thumb, Supernumerary tooth, Frontal ... OMIM:604757
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Proptosis, Joint stiffness, Short greater sciatic notch,... ORPHA:1860
Atypical Teratoid Rhabdoid Tumor
Macrocephaly, Limitation of joint mobility, Hydrocephalus ORPHA:99966
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Flat face, Ventriculomegaly, Hypoplasia of the maxilla, Malar flattening, Brachycepha... OMIM:109120
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Deeply set eye, Small nail, Finger syndactyly, Hypertelorism, Highly... ORPHA:313781
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Rhizomelia, Flared metaphysis, Short finger,... OMIM:607095
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Hypopigmentation of... OMIM:601957
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Flexion contracture, Dolichocephaly, Carious teeth, Turricephaly, Alopecia, Generalized hypoplasi... OMIM:203550
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Split hand, Split foot OMIM:183700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Proptosis, Hypoplasia of the maxilla, Frontal bossing, Malar flattening, Turriceph... ORPHA:93262
Hall-Riggs Syndrome
Brachydactyly, Joint stiffness, Delayed eruption of teeth, Abnormality of epiphysis morphology, C... ORPHA:2107
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Slender finger, Sandal gap, Clinodactyly of the 5th finger, Broad hallux, Micrognathia, Broad eye... OMIM:617755
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Advanced ossification of carpal bones, Hydrocephalus, Shallow orbits, F... OMIM:224400
Kleeblattschaedel
Craniosynostosis, Cloverleaf skull, Hydrocephalus, Elbow ankylosis, Proptosis OMIM:148800
Temple Syndrome
Clinodactyly, Flexion contracture, Relative macrocephaly, Micrognathia, Joint hypermobility, Fron... OMIM:616222
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Enamel hypoplasia, Osteoporosis, Microcephaly, Hypoplasia of the primary teeth, Me... OMIM:234250
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Type A brachydactyly, Short middle phalanx of the 5th fin... OMIM:112800
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormality of skin pigmentation, Sandal gap, Abnormal dental enamel morphology, M... ORPHA:2180
Brachydactyly Type E
Upper limb asymmetry, Type E brachydactyly, Short metacarpal, Aplasia/Hypoplasia of the distal ph... ORPHA:93387
Mental Retardation, Buenos Aires Type
Fair hair, Hypertelorism, Long eyelashes, Clinodactyly of the 5th finger, Carious teeth, Blue iri... OMIM:249630
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... OMIM:122860
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Single transverse palmar cr... ORPHA:370010
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Dysostosis, Stanescu Type
Brachydactyly, Bowing of the long bones, Wormian bones, Increased bone mineral density, Abnormali... ORPHA:1798
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, Enamel hypoplasia, Sandal gap, Malar flattening, Mandibular prognathia, Hydrocepha... OMIM:600991
Hypophosphatemic Rickets
Periapical tooth abscess, Bowing of the long bones, Joint stiffness, Craniofacial asymmetry, Fibr... ORPHA:437
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Abnormality of the nail, Delayed ... ORPHA:950
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Triangular face, Micrognathia, Microcephaly, Short middle phalanx of finger, Talip... OMIM:612626
Larsen-Like Syndrome
Dental malocclusion, Bipartite calcaneus, Hypertelorism, Flat face, Clinodactyly of the 5th finge... OMIM:608545
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Small hand... OMIM:170390
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Blue ... OMIM:614613
Thanatophoric Dysplasia
Brachydactyly, Proptosis, Abnormal ilium morphology, Joint stiffness, Flat face, Ventriculomegaly... ORPHA:2655
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Trigonocephaly, Finger syndactyly, Flat face, Triphalangeal thumb, Arachnodactyly, Frontal bossin... ORPHA:2994
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Wolf-Hirschhorn Syndrome
Short thumb, Micrognathia, Highly arched eyebrow, Microcephaly, Vertebral fusion, Hip dysplasia, ... OMIM:194190
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Metacarpal synostosis, Postaxial hand polydactyly, Syndactyly OMIM:263450
Long-Thumb Brachydactyly Syndrome
Brachydactyly, Short finger, Long thumb OMIM:112430
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Hypertelorism, Frontotemporal hypertrichosis, Decreased skull ossification, ... OMIM:263210
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Thick eyebrow, Clinodactyly of the 5th finger, Radioulnar synostosis, Synophry... ORPHA:3268
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Cutaneous syndactyly, Frontal bossing, Spindle-shaped finger, Delayed epiphyseal os... ORPHA:166024
Pde4D Haploinsufficiency Syndrome
Cone-shaped epiphysis, Micrognathia, Mandibular prognathia, Short toe, Brachydactyly, Hypoteloris... ORPHA:439822
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Fgfr2-Related Bent Bone Dysplasia
Brachydactyly, Bowing of the legs, Hypoplastic ischia, Decreased calvarial ossification, Osteopen... ORPHA:313855
Holoprosencephaly 5
Semilobar holoprosencephaly, Hypotelorism, Trigonocephaly, Dilation of lateral ventricles, Hydroc... OMIM:609637
Mosaic Trisomy 20
Clinodactyly, Craniofacial asymmetry, Micrognathia, Down-sloping shoulders, Depigmentation/hyperp... ORPHA:1724
Al-Raqad Syndrome
Brachydactyly, Deeply set eye, Flat face, Sandal gap, Joint laxity, Hypopigmentation of the skin,... OMIM:616459
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Hypertelorism, Syndactyly OMIM:212780
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Craniosynostosis, Finger syndactyly, Micrognathia, Micromelia, Malar flattening, T... ORPHA:2145
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Hydrocephalus, Trigonocephaly, Hypertelorism, Scaphocephaly, Hypoplastic toenails, Sparse scalp h... ORPHA:459061
Edinburgh Malformation Syndrome
Generalized hirsutism, Slender finger, Hydrocephalus, Joint stiffness, Micrognathia, Frontal boss... ORPHA:1895
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Imagawa-Matsumoto Syndrome
Clinodactyly, Hypertelorism, Hypertrichosis, Melanocytic nevus, Mandibular prognathia, Round face... OMIM:618786
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Enamel hypoplasia, Hypoplastic toenails, Sp... OMIM:613573
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Pfeiffer Syndrome
Hydrocephalus, Finger syndactyly, Shallow orbits, Shortening of all middle phalanges of the finge... OMIM:101600
Gómez-López-Hernández Syndrome
Hypertelorism, Midface retrusion, Toenail dysplasia, Turricephaly, Brachycephaly, Hydrocephalus, ... ORPHA:1532
Brachydactyly Type C
Symphalangism affecting the phalanges of the hand, Metatarsus valgus, Pseudoepiphysis of the 2nd ... ORPHA:93384
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clinodactyly, Cone-shaped epiphysis, Nail dysplasia, Microcephaly, Small hand, Mandibular prognat... OMIM:614813
Silver-Russell Syndrome 3
Triangular face, Retrognathia, Finger clinodactyly, Melanocytic nevus, Syndactyly OMIM:616489
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Finger ... ORPHA:93397
Masa Syndrome
Ventriculomegaly, Microcephaly, Adducted thumb, Hydrocephalus, Macrocephaly, Talipes equinovarus OMIM:303350
14Q11.2 Microdeletion Syndrome
Deeply set eye, Toe syndactyly, Toe clinodactyly, Sparse lateral eyebrow, Micrognathia, Highly ar... ORPHA:261120
Intellectual Disability, Wolff Type
Abnormality of the nail, Clinodactyly of the 5th finger, Short distal phalanx of finger, Microret... ORPHA:3080
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology, Enamel hypoplasia, Ventriculomegaly, Microcep... ORPHA:2643
Pentasomy X
Plagiocephaly, Clinodactyly of the 5th finger, Micrognathia, Radioulnar synostosis, Microcephaly,... ORPHA:11
Coccidioidomycosis
Increased CSF protein, Hypoglycorrhachia, Abnormality of long bone morphology, Broad metatarsal, ... ORPHA:228123
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, 2-3 toe syndactyly, Long eyelashes, 2-4 finger syndactyly, Hyper... OMIM:227210
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Hypertelorism, Dolichocephaly, Clinodactyly of the 3rd toe, Delayed closure of the... OMIM:604922
Dandy-Walker Malformation With Postaxial Polydactyly
Dolichocephaly, Dilated fourth ventricle, Dandy-Walker malformation, Frontal bossing, Postaxial h... OMIM:220220
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Proptosis, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th f... ORPHA:2370
Intellectual Developmental Disorder, Autosomal Dominant 59
Brachydactyly, Short palm, Flat face, Highly arched eyebrow, Fragile nails, Macrocephaly, Abnorma... OMIM:618522
Hidrotic Ectodermal Dysplasia
Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, Hyperpigmentation of the skin, Alo... ORPHA:189
Gorlin Syndrome
Brachydactyly, Hydrocephalus, Carious teeth, Arachnodactyly, Frontal bossing, Palmar pits, Verteb... ORPHA:377
Tetralogy Of Fallot
Brachydactyly, Clinodactyly of the 5th finger, Proptosis, Dolichocephaly ORPHA:3303
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Broad hallux, Sclerosis o... OMIM:304120
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Craniosynostosis, Short palm, Micrognathia, Radioulnar ... ORPHA:171839
Eem Syndrome
Finger syndactyly, Abnormality of retinal pigmentation, Carious teeth, Sparse body hair, Absent e... ORPHA:1897
Brachydactyly, Combined B And E Types
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Concave... OMIM:112440
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Acrocephalopolydactyly
Brachydactyly, Oxycephaly, Premature closure of fontanelles, Limb undergrowth, Short long bone, H... ORPHA:221054
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Brachydactyly, Synostosis of carpal bones, Biparietal narrowing, Finger syndactyly, Joint stiffne... ORPHA:1005
Eiken Syndrome
Clinodactyly, Delayed ossification of carpal bones, Fibular hypoplasia, Broad femoral neck, Multi... OMIM:600002
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic toenails, Apla... ORPHA:94066
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Short toe, Metaphyseal widening, Brachy... OMIM:250215
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Deeply set eye, Hypertelorism, Mesom... ORPHA:93333
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Brachydactyly, Heterochromia iridis, Clinodactyly of the 5th finger, Abnormality of retinal pigme... ORPHA:1390
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Pfeiffer Syndrome
Synostosis of carpal bones, Brachydactyly, Symphalangism affecting the phalanges of the hand, Fin... ORPHA:710
Bent Bone Dysplasia Syndrome
Brachydactyly, Hypertelorism, Coronal craniosynostosis, Micrognathia, Midface retrusion, Malar fl... OMIM:614592
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Rhizomelia, Joint laxity, Relative macrocephaly, Midface retr... OMIM:612813
Intellectual Developmental Disorder, Autosomal Recessive 61
Hypertelorism, Long eyelashes, Thick eyebrow, Tapered finger, Highly arched eyebrow, Synophrys, M... OMIM:617773
Prieto Syndrome
Clinodactyly, Coxa valga, Osteoporosis, Talipes equinovarus, Retrognathia, Hypertelorism, Radial ... OMIM:309610
Frontal Encephalocele
Dolichocephaly, Calvarial skull defect, Spina bifida, Hydrocephalus, Macrocephaly, Hypertelorism,... ORPHA:1931
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Joint stiffness ORPHA:1078
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Decreased calvarial ossification, Hydrocephalus, Single transv... OMIM:617866
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Finger syndactyly, Hypopigmented skin patches, Triphalangeal thumb, Ony... ORPHA:2251
Otopalatodigital Syndrome, Type I
Prominent occiput, Sandal gap, Nail dysplasia, Abnormality of the fifth metatarsal bone, Bulbous ... OMIM:311300
Thanatophoric Dysplasia Type 2
Brachydactyly, Flat face, Holoprosencephaly, Ventriculomegaly, Micromelia, Cloverleaf skull, Fron... ORPHA:93274
Acrofacial Dysostosis Syndrome Of Rodriguez
Deeply set eye, Clinodactyly, Hypertelorism, Single transverse palmar crease, Fibular hypoplasia,... OMIM:201170
Pettigrew Syndrome
Deeply set eye, Flexion contracture, Ventriculomegaly, Dandy-Walker malformation, Mandibular prog... OMIM:304340
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Syndactyly Type 4
Toe syndactyly, Foot polydactyly, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Frontonasal Dysplasia 1
Brachydactyly, Clinodactyly, Widow's peak, Hypoplastic frontal sinuses, Hypertelorism, Cranium bi... OMIM:136760
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Clinodactyly, Deeply set eye, Flat face, Micrognathia, Frontal bossing, Long face,... OMIM:613604
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Bilateral talipes equinovarus, Coxa valga, Osteoporosis, Retrognathia, Finger clinodactyly, Hyper... ORPHA:2958
Okur-Chung Neurodevelopmental Syndrome
Brachydactyly, Clinodactyly, Micrognathia, Joint hypermobility, Microcephaly, Highly arched eyebr... OMIM:617062
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Cone-shaped epiphyses of the middle phalanges of the hand, Coxa magna, Osteopenia,... OMIM:190351
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Malar ... ORPHA:52056
Intellectual Developmental Disorder, Autosomal Recessive 68
Broad eyebrow, Hypoplasia of the maxilla, Microcephaly, Synophrys, Hydrocephalus OMIM:618302
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Dolichocephaly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Sh... OMIM:617102
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly ORPHA:238446
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly ORPHA:2935
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Dolichocephaly, Frontal ... ORPHA:40
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu varum, Metaphyseal irregularity, Flexion contracture, Delayed pubic bone ossification, Enlar... OMIM:613330
Crouzon Syndrome
Hypopigmented skin patches, Multiple suture craniosynostosis, Midface retrusion, Hypoplasia of th... ORPHA:207
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Micrognathia, Abnormal facial shape, Malar flattening, Syno... ORPHA:357175
Summitt Syndrome
Craniosynostosis, Syndactyly, Oxycephaly OMIM:272350
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Proptosis, Rhizomelia, Hypoplastic scapulae, Micrognathia, Midface retrusion, Micr... ORPHA:440354
Lujan-Fryns Syndrome
Brachydactyly, Narrow face, Micrognathia, Hypoplasia of the maxilla, Arachnodactyly, Brachycephal... ORPHA:776
Aminopterin/Methotrexate Embryofetopathy
Small nail, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Holoprosencephaly, Anencephaly, M... ORPHA:1908
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Abnormal pelvis bone morphology, Flat face, Short metacarpal, Sandal gap, Flared f... ORPHA:1427
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Tapered distal phalanges of finger, Absent fingernail, Sand... OMIM:609638
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Brachydactyly, Hydrocephalus, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Carious te... ORPHA:2701
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormality of pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Sclerosis... OMIM:123000
Acrocallosal Syndrome
Prominent occiput, Hypertelorism, Triphalangeal thumb, Dandy-Walker malformation, Postaxial hand ... ORPHA:36
2q37 monosomy
Brachydactyly, Deeply set eye, Round face DECIPHER:44
Mesomelia-Synostoses Syndrome
Clinodactyly of the 5th finger, Micrognathia, Micromelia, Abnormality of the humerus, Genu valgum... ORPHA:2496
Spinocerebellar Ataxia, Autosomal Recessive 20
Brachydactyly, Clinodactyly, Delayed eruption of teeth, Relative macrocephaly, Talipes equinovaru... OMIM:616354
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Abnormality of the nail, Rhizomelia, Joint laxity, Relative macrocephaly, Midface ... ORPHA:171866
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Aplasia/Hypoplasia... ORPHA:1350
Hemifacial Atrophy, Progressive
Deeply set eye, Patchy alopecia, Delayed eruption of teeth, Hemifacial atrophy, Poliosis, Dental ... OMIM:141300
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Osteoporosis, Thin metacarpal co... OMIM:259600
Trisomy 5P
Dolichocephaly, Ventriculomegaly, Frontal bossing, Round face, Macrocephaly, Hypertelorism, Abnor... ORPHA:1742
Acrofrontofacionasal Dysostosis 2
Widow's peak, Hypertelorism, Hand polydactyly, Broad hallux, Brachycephaly, Broad thumb, Wide ant... OMIM:239710
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... ORPHA:628
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Hyperpigmentation of ... ORPHA:444002
Tetrasomy 5P
Hypertelorism, Flat face, Clinodactyly of the 5th finger, Short hallux, Coarse facial features, M... ORPHA:3309
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Large face, Deviation of finger, Flat face, Short metacarpal, Rhizomelia, Short hu... ORPHA:2831
Fibromatosis, Gingival, With Distinctive Facies
Persistence of primary teeth, Thick eyebrow, Delayed eruption of permanent teeth, Synophrys, Macr... OMIM:228560
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Hydrocephalus, Lambdoidal craniosynostosis, Flexion contracture, Coronal craniosynostosis, Rocker... OMIM:207410
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Biparietal narrowing, Abnormal hip bone morphology, Joint stiffness, ... ORPHA:1323
Whistling Face Syndrome, Recessive Form
Hypertelorism, Elbow flexion contracture, Trismus, Micrognathia, Knee flexion contracture, Midfac... OMIM:277720
Intellectual Developmental Disorder, Autosomal Dominant 36
Hydrocephalus, Plagiocephaly, Hypertelorism, Prominent metopic ridge, Broad hallux, Ventriculomeg... OMIM:616362
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Hypotelorism, Plagiocephaly, Craniosynostosis, Coxa valga, Clinodactyly of the 5th... ORPHA:2163
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Brachydactyly, Finger joint hypermobility, Single transverse palmar crease, 2-3 toe syndactyly, J... OMIM:618870
Developmental And Epileptic Encephalopathy 49
Long eyelashes, Ventriculomegaly, Microcephaly, Frontal bossing, Dandy-Walker malformation, Hydro... OMIM:617281
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Supernumerary tooth, Short fin... OMIM:191482
Crouzon Syndrome With Acanthosis Nigricans
Craniosynostosis, Midface retrusion, Brachycephaly, Hydrocephalus, Melanocytic nevus, Hypertelori... OMIM:612247
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Hypertelorism, Epiphys... OMIM:619135
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Tonne-Kalscheuer Syndrome
Brachydactyly, Hypotelorism, Small nail, Narrow face, Fine hair, Micrognathia, Microcephaly, Mala... OMIM:300978
Acromicric Dysplasia
Brachydactyly, Joint stiffness, Short palm, Abnormality of epiphysis morphology, Long eyelashes, ... ORPHA:969
Temtamy Syndrome
Brachydactyly, Hypertelorism, Short 2nd toe, Hypoplasia of teeth, Micrognathia, Highly arched eye... OMIM:218340
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Macrocephaly, Ventriculomegaly OMIM:611808
Short Stature With Microcephaly And Distinctive Facies
Brachydactyly, Osteopenia, Short digit, Sparse eyebrow, Microcephaly, Short distal phalanx of fin... OMIM:615789
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Deeply set eye, Hypotelorism, Prominent occiput, Plagiocephaly, Dolichocephaly, Clinodactyly of t... OMIM:618672
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Brachydactyly, Hypotelorism, Skull asymmetry, Single transverse palmar crease, 2-3 toe syndactyly... OMIM:614701
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Flexion contracture, Delayed eruption of teeth, Short metacar... ORPHA:263463
Nicolaides-Baraitser Syndrome
Brachydactyly, Triangular face, Short palm, Abnormality of epiphysis morphology, Long eyelashes, ... ORPHA:3051
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Abnormality of cranial sutures, Coxa valga, Increased bone m... ORPHA:163649
Trisomy 9P
Brachydactyly, Deeply set eye, Impacted tooth, Hypoplastic toenails, Clinodactyly of the 5th fing... ORPHA:236
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Coffin-Siris Syndrome 7
Brachydactyly, Clinodactyly, Trigonocephaly, Thick eyebrow, Hypoplastic fifth toenail, Sparse sca... OMIM:618027
Emery-Nelson Syndrome
Brachydactyly, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Flat face, Contr... ORPHA:1927
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Wormian bones, Flexion contracture, Short femoral neck, Flare... OMIM:300232
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Mend Syndrome
2-3 toe syndactyly, Overlapping fingers, Polydactyly, Midface retrusion, Dandy-Walker malformatio... OMIM:300960
Craniofacial-Deafness-Hand Syndrome
Flat face, Narrow face, Hypoplasia of the maxilla, Abnormality of the wrist, Ulnar deviation of f... ORPHA:1529
Keipert Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Short hal... ORPHA:2662
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Deeply set eye, Clinodactyly, Hypertelorism, Mandibular prognathia, Sparse hair, Hirsutism, Synda... OMIM:618087
Pycnodysostosis
Abnormality of the nail, Nail dysplasia, Micrognathia, Hypoplastic iliac wing, Small hand, Ridged... ORPHA:763
Cornelia De Lange Syndrome 5
Deeply set eye, Toe syndactyly, Long eyelashes, Clinodactyly of the 5th finger, Ventriculomegaly,... OMIM:300882
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Hypoplastic pubic bone, Delayed ossificati... ORPHA:93346
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Cardiocranial Syndrome, Pfeiffer Type
Slender finger, Small hypothenar eminence, Hypertelorism, Temporomandibular joint ankylosis, Cont... ORPHA:2872
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Hydrocephalus, Metaphyseal irregularity, Short greater sciatic notch, S... OMIM:187600
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Micrognathia, Malar flattening, Synophrys, Flat occiput, Hy... OMIM:615162
Isolated Osteopoikilosis
Abnormal pelvis bone morphology, Joint stiffness, Abnormal pelvis bone ossification, Increased bo... ORPHA:166119
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Pallister-Hall-Like Syndrome
Occipital encephalocele, Micrognathia, Micromelia, Postaxial hand polydactyly, Hydrocephalus, Mac... OMIM:241800
Band Heterotopia
Macrocephaly, Ventriculomegaly, Hydrocephalus OMIM:600348
Mesomelic Dysplasia, Nievergelt Type
Large face, Genu varum, Abnormality of the ulna, Finger syndactyly, Dolichocephaly, Bilateral sin... ORPHA:2633
Trichorhinophalangeal Syndrome Type 2
Brachydactyly, Bilateral single transverse palmar creases, Cone-shaped epiphyses of the phalanges... ORPHA:502
Lethal Kniest-Like Dysplasia
Brachydactyly, Flat face, Flared metaphysis, Talipes equinovarus, Mesomelic/rhizomelic limb short... ORPHA:2347
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Single transverse palmar crease, Sandal gap, Thick eyebrow, Fine hair, Micromelia,... OMIM:614800
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly, Carious teeth, Distichiasis, Hypertelorism, Abnormal hair quantity ORPHA:1997
Alopecia-Intellectual Disability Syndrome
Brachydactyly, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse ... ORPHA:2850
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Hypoplastic iliac wing, Short distal phalanx of finger, Mandibular prognathia, Den... ORPHA:1858
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microcephaly, Hypopl... OMIM:210720
Frank-Ter Haar Syndrome
Brachydactyly, Deeply set eye, Joint stiffness, Delayed eruption of teeth, Clinodactyly of the 5t... ORPHA:137834
Chromosome 16Q22 Deletion Syndrome
Wormian bones, Single transverse palmar crease, Hypertelorism, Prominent metopic ridge, Broad hal... OMIM:614541
Gordon Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Camptodactyly of finger, Limitation of joint m... ORPHA:376
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Hypoplastic toenails, Narrow face, Sandal gap, Clinodactyly of the 5th f... ORPHA:251014
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Brachydactyly, 2-3 toe syndactyly, Cone-shaped epiphysis, Tapered finger, Broad hallux, Micrognat... OMIM:618659
Cole-Carpenter Syndrome
Bowing of the long bones, Communicating hydrocephalus, Wormian bones, Delayed eruption of teeth, ... ORPHA:2050
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Amelogenesis imperfecta, Flattened epiphysis, Coxa valga, ... OMIM:618363
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Abnormality of epiphysis morphology, Rhizomelia, Decreased skull ossifi... ORPHA:93267
Weyers Acrofacial Dysostosis
Brachydactyly, Hypotelorism, Small nail, Short palm, Postaxial foot polydactyly, Clinodactyly of ... OMIM:193530
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Flexion contracture, Rocker bottom foot, Thick eyebrow, Tapered fing... OMIM:615547
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Joint laxity, Ventriculomegaly, Polydactyly, Hydrocephalus, Hypertelorism, Progressive macrocepha... OMIM:602501
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Prominent occiput, Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Bo... ORPHA:2725
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Dolichocephaly, Abnormal hair pattern, Ventriculomegaly, Micrognathia, Highly arch... ORPHA:2083
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Neurogenic Arthrogryposis Multiplex Congenita
Plagiocephaly, Flexion contracture, Hypertelorism, Rocker bottom foot, Ankle flexion contracture,... ORPHA:1143
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Clinodactyly of the 5th finger, Co... ORPHA:363417
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Metaphyseal cupping of proximal phalanges, Decreased skull ossification, Metaphyseal ... OMIM:300863
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Sagittal craniosynostosis, Hydrocephalus OMIM:123155
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Micrognathia, Preaxial ... OMIM:277170
Tricho-Retino-Dento-Digital Syndrome
Brachydactyly, Short 5th metacarpal, Abnormality of retinal pigmentation, Supernumerary tooth, Sp... ORPHA:1264
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Mohr Syndrome
Brachydactyly, Hydrocephalus, Metaphyseal irregularity, Wormian bones, Partial duplication of the... OMIM:252100
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Anonychia, Metatarsus adductus, Polydactyly, P... OMIM:613005
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Fountain Syndrome
Brachydactyly, Craniofacial hyperostosis, Thick eyebrow, Large hands, Midface retrusion, Short di... ORPHA:3219
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyebrow, Syndactyly, Sparse eyelashes, Sparse scalp hair, Camptodactyly, Split hand, Joint... OMIM:225280
Cooks Syndrome
Brachydactyly, Triphalangeal thumb, Abnormal toenail morphology, Dystrophic toenail, Dystrophic f... ORPHA:1487
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachydactyly, Deeply set eye, Short metacarpal, Microcephaly, Frontal bossing, Malar flattening,... OMIM:617157
Holoprosencephaly, Recurrent Infections, And Monocytosis
Brachydactyly, Tapered finger, Microcephaly, Short finger, Brachycephaly, Short toe, Holoprosence... OMIM:610680
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of the nail, Abnormality of pelvic girdle bone morpholog... OMIM:157900
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Palmoplantar keratoderma, Syndactyly, Enamel hypoplasia OMIM:613576
Cranioectodermal Dysplasia 3
Brachydactyly, Dolichocephaly, Sandal gap, Joint laxity, Broad nail, Fine hair, Hypoplasia of tee... OMIM:614099
Potocki-Shaffer Syndrome
Brachydactyly, 2-5 finger cutaneous syndactyly, Wormian bones, Single transverse palmar crease, S... OMIM:601224
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypotelorism, Toe syndactyly, Metatarsus valgus, Abnormality of epiphysis morphology, Abnormal ha... ORPHA:3082
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Microcephaly, ... OMIM:223800
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Hypertelorism,... ORPHA:90650
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Brachydactyly, Toe syndactyly, Small nail, Bilateral triphalangeal thumbs, Triphalangeal thumb, N... OMIM:124480
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly, Sparse hair ORPHA:2266
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Deeply set eye, Toe syndactyly, Foot polydactyly, Finger syndactyly, Hand polydactyly, Ventriculo... ORPHA:60040
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microcephaly... ORPHA:457395
Smith-Magenis Syndrome
Brachydactyly, Deeply set eye, Short palm, Abnormality of the forearm, Broad palm, Ventriculomega... OMIM:182290
Craniometaphyseal Dysplasia, Autosomal Recessive
Patchy sclerosis of finger phalanx, Facial hyperostosis, Flared metaphysis, Delayed eruption of p... OMIM:218400
Shprintzen-Goldberg Craniosynostosis Syndrome
Shallow orbits, Micrognathia, Microcephaly, Metaphyseal widening, Genu valgum, Joint hypermobilit... OMIM:182212
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Hypoplastic toenails, Absent fingernail, Clinodactyly of the 5th finger, Thick eyebrow, Short dis... ORPHA:1292
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Ox... ORPHA:65759
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis, Micrognathia, Arachnodactyly, Spa... ORPHA:2824
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Anencephaly, Ventriculomegaly, Micrognathia, Postaxial hand polydacty... OMIM:614120
Hypomelanosis Of Ito
Clinodactyly, Radial deviation of finger, Hand polydactyly, Alopecia, Hypertelorism, Macular hypo... OMIM:300337
Bardet-Biedl Syndrome 7
Deeply set eye, Clinodactyly, 2-3 toe syndactyly, Polydactyly, Malar flattening, Postaxial polyda... OMIM:615984
Osteoglosphonic Dysplasia
Brachydactyly, Craniosynostosis, Rhizomelia, Abnormal bone ossification, Micrognathia, Multiple u... ORPHA:2645
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Short phalanx of finger, Short digit, Oligodactyly, Camptodacty... OMIM:610713
Pseudopseudohypoparathyroidism
Brachydactyly, Short 5th metacarpal, Short distal phalanx of the thumb, Short 4th metacarpal, Sho... ORPHA:79445
Acalvaria
Hypertelorism, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Holoprosencephaly, Calvar... ORPHA:945
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Short long bone, Abnormality of the epiphysis of the femoral head, Sho... ORPHA:93316
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Bifid distal phalanx of toe, Nail dysplasia, Micrognathia, Vertebral fusion, Retrog... OMIM:268310
Pfeiffer Syndrome Type 1
Toe syndactyly, Finger syndactyly, Short palm, Aplasia/Hypoplasia of the thumb, Short foot, Short... ORPHA:93258
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Raine Syndrome
Highly arched eyebrow, Micrognathia, Micromelia, Microcephaly, Mandibular prognathia, Arthrogrypo... OMIM:259775
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Brachydactyly, Hip osteoarthritis, Osteoarthritis, Short thumb, Broad hallux, Midface retrusion, ... OMIM:165800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Joint stiffness, Short metaca... OMIM:608940
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, Wormian bones, Delayed eruption of teeth, Long eyelashes, Micrognathia, Camptodact... ORPHA:2863
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Joint stiffness, Abnormality of epiphy... ORPHA:2746
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Bowing of the legs, Hypoplastic ischia, Hypoplastic pubic bone, Flexion contractur... ORPHA:1865
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Sandal gap, Joint laxity, Relative macrocephaly, Ventriculomegaly, Small hand, Man... OMIM:300354
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Brachydactyly, Plagiocephaly, Craniosynostosis, Micrognathia, Arthrogryposis multiplex congenita,... OMIM:618265
Roifman Syndrome
Brachydactyly, Prominent eyelashes, Irregular capital femoral epiphysis, Delayed proximal femoral... ORPHA:353298
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Mesomelia, S... OMIM:611263
Pseudopseudohypoparathyroidism
Brachydactyly, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Osteoporosis, Roun... OMIM:612463
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Small nail, Progressive microcephaly, Hypoplasia of the maxilla, Sho... OMIM:614261
Erythrokeratodermia Variabilis
Brachydactyly, Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Tapered ... ORPHA:317
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Joint stiffness, Hypopigmented skin patches, Short distal phalanx of finger, Synop... ORPHA:1295
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Kleefstra Syndrome 1
Brachydactyly, Single transverse palmar crease, Hypertelorism, Flat face, Midface retrusion, Nata... OMIM:610253
20P12.3 Microdeletion Syndrome
Ventriculomegaly, Hypoplasia of the maxilla, Malar flattening, Broad thumb, Macrocephaly, Hyperte... ORPHA:261295
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Craniosynostosis, Increased bone mineral density, Femur fracture, Carious teeth, F... OMIM:259700
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Recurrent fractures, Abnormality of epiphysis morphology, Clinodac... ORPHA:3409
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Brachydactyly, Deeply set eye, Hypertelorism, Patellar hypoplasia, Flat face, Microcephaly, Retro... ORPHA:464288
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Blue irides, Mandibular prognathia, Melanocytic nevus, Brachydactyly, Cone-shaped epi... OMIM:101800
Apert Syndrome
Shallow orbits, Rhizomelic arm shortening, Cervical C5/C6 vertebrae fusion, Mandibular prognathia... OMIM:101200
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Arachnodactyly, Retrognathia, Hypertelorism, Syndactyly OMIM:619092
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormal thumb morphology, Finger syndactyly, Hypopigmented skin patches, Abnormality of the wris... ORPHA:1825
Brachydactyly, Type E2
Brachydactyly, Short metacarpal, Short metatarsal, Delayed eruption of teeth OMIM:613382
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Brachytelomesophalangy, Knee osteoarthritis, Limitation of joint ... ORPHA:2619
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Brachydactyly, Small nail, Craniosynostosis, Short metacarpal, Sparse eyebrow, Metaphyseal chondr... OMIM:250410
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Arthrochalasia Ehlers-Danlos Syndrome
Hypertelorism, Joint stiffness, Coxa valga, Micrognathia, Retrognathia, Avascular necrosis of the... ORPHA:1899
Peroxisome Biogenesis Disorder 12A (Zellweger)
Triangular face, Delayed closure of the anterior fontanelle, Cranial asymmetry, Microcephaly, Abn... OMIM:614886
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Sandal gap, Clinodactyly of t... OMIM:617061
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Midface retrusion, Micromelia, Malar flattening, Limb... OMIM:118651
Short Syndrome
Brachydactyly, Deeply set eye, Triangular face, Hypertelorism, Short palm, Sparse hair, Abnormal ... ORPHA:3163
Rubinstein-Taybi Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Generalized hirsutism, Finger syndac... ORPHA:783
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Deeply set eye, Hydrocephalus, Sandal gap, Abnormality of fibula morphology, Aplasia/Hypoplasia o... ORPHA:1812
Cenani-Lenz Syndrome
Absent fingernail, Short thumb, Micromelia, Hip dislocation, Synostosis of carpal bones, Oligodac... ORPHA:3258
Multiple Epiphyseal Dysplasia, Beighton Type
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Abno... ORPHA:166011
Curry-Jones Syndrome
Generalized hirsutism, Toe syndactyly, Craniosynostosis, Foot polydactyly, Hypopigmented skin pat... ORPHA:1553
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Delayed epiphyseal ossification... ORPHA:93308
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Cone-shaped epiphysis, Osteoarthritis, Midface retrusion, Small hand, Delayed epip... OMIM:618618
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Osteopenia, Recurrent fractures, Coronal craniosynostosis, Shallow o... OMIM:112240
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Frontal bossing, Hypertelorism, Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone ORPHA:3074
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Kniest-Like Dysplasia, Lethal
Brachydactyly, Metaphyseal irregularity, Hypertelorism, Flat face, Rhizomelia, Relative macroceph... OMIM:245190
6Q25 Microdeletion Syndrome
Plagiocephaly, Rocker bottom foot, Clinodactyly of the 5th finger, Ventriculomegaly, Micrognathia... ORPHA:251056
Opitz-Kaveggia Syndrome
Clinodactyly, Joint contracture of the hand, Fine hair, Micrognathia, Single transverse palmar cr... OMIM:305450
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Brachydactyly, Clinodactyly, Widow's peak, Thick eyebrow, Short phalanx of finger, Small hand, Br... OMIM:614684
Pseudoaminopterin Syndrome
Clinodactyly of the 4th finger, Short thumb, Micrognathia, Highly arched eyebrow, Macrocephaly, B... ORPHA:221120
Sclerosteosis 1
Abnormality of pelvic girdle bone morphology, Hypertelorism, Deviation of finger, Nail dysplasia,... OMIM:269500
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Hydrocephalus, Macrocephaly, Holopr... OMIM:617967
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Micromelia, Generalized osteosclerosis, Limb undergrowth, ... ORPHA:1423
Apert Syndrome
Cervical C5/C6 vertebrae fusion, Micromelia, Cloverleaf skull, Mandibular prognathia, Broad thumb... ORPHA:87
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Flat face, Rhizomelia, Hy... OMIM:602613
Distal Monosomy 10Q
Widow's peak, Clinodactyly, Hypoplastic toenails, Sandal gap, Clinodactyly of the 5th finger, Tap... ORPHA:96148
Eng-Strom Syndrome
Brachydactyly, Camptodactyly of finger, Arthritis ORPHA:1937
Lowry-Maclean Syndrome
Craniosynostosis, Single transverse palmar crease, Osteopenia, Small anterior fontanelle, Widely ... ORPHA:2409
Williams-Beuren Region Duplication Syndrome
Deeply set eye, Hydrocephalus, Long eyelashes, Ventriculomegaly, Micrognathia, Brachycephaly, Hor... OMIM:609757
Roberts Syndrome
Sandal gap, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Mesomelic arm shortening,... ORPHA:3103
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Macrocephaly, Hypertelorism, Postaxial hand polydactyly, Hydrocephalus ORPHA:83473
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Tracheomalacia, Fibular hypoplasia, Poorly ossifi... OMIM:114290
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flattened epiphysis, Osteopenia, Delayed eruption of teeth, Hyper... OMIM:612350
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Osteoarthritis, Short thumb, Midface retrusion ORPHA:435804
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, Short middle phalanx of the 2nd finger, Hypoplastic iliac... OMIM:119600
Brachydactyly-Distal Symphalangism Syndrome
Single transverse palmar crease, Type A1 brachydactyly, Aplasia of the middle phalanx of the hand... OMIM:113450
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Hydrocephalus, Elbow flexion contracture, Small nail OMIM:619470
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Decreased skull ossification, Microcephaly, Stenosis of the medullary cavity of th... ORPHA:93324
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Flexion contracture, 2-3 toe syndactyly, Increased CSF protein, Tapered finger, Ventriculomegaly,... OMIM:218000
Fibrochondrogenesis
Brachydactyly, Proptosis, Plagiocephaly, Hypertelorism, Hypoplastic fingernail, Hypoplastic scapu... ORPHA:2021
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Advanced tarsal o... OMIM:269250
Atkin-Flaitz Syndrome
Short palm, Joint laxity, Broad palm, Tapered finger, Maxillary lateral incisor microdontia, Fron... OMIM:300431
Trisomy 1Q
Hydrocephalus, Toe syndactyly, Hypotelorism, Aplasia/Hypoplasia of the nails, Hypoplastic toenail... ORPHA:261344
Filippi Syndrome
Single transverse palmar crease, Frontal hirsutism, Cutaneous syndactyly, 2-4 toe syndactyly, Hyp... OMIM:272440
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Infantile Spasms-Broad Thumbs Syndrome
Micrognathia, Abnormality of the fontanelles or cranial sutures, Microcephaly, Broad thumb, Hyper... ORPHA:3173
49,Xyyyy Syndrome
Trigonocephaly, Short 5th finger, Generalized joint laxity, Abnormality of the epiphyses of the e... ORPHA:99330
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Deeply set eye, Alopecia, Sparse hair, Broad thumb OMIM:617763
Blepharocheilodontic Syndrome 2
Flat face, Cutaneous syndactyly, Distichiasis, Hypertelorism, Facial asymmetry OMIM:617681
Greenberg Dysplasia
Multiple prenatal fractures, Broad palm, Decreased skull ossification, Micrognathia, Micromelia, ... OMIM:215140
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... OMIM:120400
Cousin Syndrome
Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Hypoplastic pubic bone, 2-3... OMIM:260660
Pineocytoma
Increased CSF protein, Hydrocephalus ORPHA:251912
Acrocraniofacial Dysostosis
Abnormal hip bone morphology, Tapered finger, Micrognathia, Microcephaly, Short 1st metacarpal, A... ORPHA:949
Acrofrontofacionasal Dysostosis
Brachydactyly, Hypopigmented skin patches, Abnormality of epiphysis morphology, Aplasia/Hypoplasi... ORPHA:1784
Mosaic Trisomy 16
Clinodactyly, Craniofacial asymmetry, Single transverse palmar crease, Short femoral neck, Short ... ORPHA:1708
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Atelosteogenesis Type I
Brachydactyly, Proptosis, Absent or minimally ossified vertebral bodies, Hypertelorism, Rhizomeli... ORPHA:1190
Monosomy 18P
Brachydactyly, Carious teeth, Micrognathia, Microcephaly, Brachycephaly, Alopecia, Holoprosenceph... ORPHA:1598
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Osteoporosis, Thic... OMIM:103580
Aarskog-Scott Syndrome
Hypertelorism, Delayed eruption of teeth, Single transverse palmar crease, Finger syndactyly, Sho... ORPHA:915
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Micrognathia, Dandy-Walker malformation, Frontal bossing, Retrognathia, Hydroce... ORPHA:163961
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Macrocephaly, Brachydactyly, Increased bone mineral density, Aplastic clav... ORPHA:2658
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Pili torti, Sparse lateral eyebrow, Short 4th metacarpal, Thin eyebrow, Supern... ORPHA:1787
Coffin-Siris Syndrome 6
Brachydactyly, Clinodactyly, Plagiocephaly, Wormian bones, Micrognathia, Frontal bossing, Retrogn... OMIM:617808
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Lower limb undergrowth, Hydrocephalus, Short lower limbs OMIM:236640
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Saethre-Chotzen Syndrome
Brachydactyly, Hypotelorism, Plagiocephaly, Craniosynostosis, Finger syndactyly, Clinodactyly of ... ORPHA:794
Atelosteogenesis, Type I
Micrognathia, Encephalocele, Brachydactyly, Short metatarsal, Malar flattening, Short humerus, Hy... OMIM:108720
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Smith-Magenis Syndrome
Brachydactyly, Toe syndactyly, Deeply set eye, Large face, Joint stiffness, Clinodactyly of the 5... ORPHA:819
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Highly arched eyebrow, Small hand, B... OMIM:610759
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Frontal bossing, Macrocephaly, Microretrognathia, Hydrocephalus OMIM:613603
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the long bones, Flat face, Micrognathia, Malar flattening, Short long bone, Talipes equ... OMIM:224410
2Q37 Microdeletion Syndrome