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
X-Linked Intellectual Disability, Stoll Type
Hypoplastic nasal bridge, Broad nasal tip, Anteverted nares, Malar flattening, Hypertelorism, Cli... ORPHA:85326
Delayed Membranous Cranial Ossification
Depressed nasal ridge, Prominent occiput, Decreased skull ossification, Hypertelorism, Frontal bo... ORPHA:3034
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Achard Syndrome
Micrognathia, Joint hypermobility, Arachnodactyly, Brachycephaly, Broad skull OMIM:100700
Chromosome 16P11.2 Deletion Syndrome, 593-Kb
Micrognathia, Hypertelorism, Macrocephaly OMIM:611913
Microcephaly 4, Primary, Autosomal Recessive
Micrognathia, Thick eyebrow, Hypertelorism, Low hanging columella, Synophrys OMIM:604321
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Orbital craniosynostosis, Micrognathia, Hydrocephalus, Hypertelorism, Dolichocephaly, Frontal bos... ORPHA:1538
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Abnormal palmar dermatoglyphics, Toe syndactyly,... ORPHA:3246
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Wide nasal bridge, Ventriculomegaly, Micrognathia, Microcephaly, Adducted thumb, Hypertelorism, F... ORPHA:3207
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Familial Scaphocephaly Syndrome, Mcgillivray Type
Ventriculomegaly, Toe syndactyly, Trigonocephaly, Hypertelorism, Macrocephaly, Dolichocephaly, Ma... ORPHA:168624
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Wide nasal bridge, High anterior hairline, Broad nasal tip, Thick nasal alae, Thin eyebrow, Narro... OMIM:618147
Intellectual Developmental Disorder, Autosomal Recessive 74
Wide nasal bridge, Prominent nose, Brachydactyly, Macrocephaly, Dolichocephaly, Relative macrocep... OMIM:617169
Phenobarbital Embryopathy
Aplasia/Hypoplasia of the nails, Aplasia/Hypoplasia of fingers, Malar flattening, Microcephaly, B... ORPHA:1919
Developmental And Epileptic Encephalopathy 36
Small hand, Microretrognathia, Anteverted nares, Microcephaly, Coarse facial features, Hydrocepha... OMIM:300884
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Muenke Syndrome
Coronal craniosynostosis, Capitate-hamate fusion, Plagiocephaly, Dental malocclusion, Broad thumb... OMIM:602849
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Macrocephaly, Hydrocephalus, Postaxial hand polydactyly, Syndactyly OMIM:615938
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Absent epiphyses, Ventriculomegaly, Delayed e... OMIM:600373
Weill-Marchesani Syndrome 1
Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the hand, Joint stiffness, ... OMIM:277600
Temtamy Syndrome
Short toe, Micrognathia, Clinodactyly of the 5th finger, Joint hypermobility, Coarse facial featu... ORPHA:1777
Rhizomelic Syndrome, Urbach Type
Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology... ORPHA:3098
Greig Cephalopolysyndactyly Syndrome
Wide nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Pr... ORPHA:380
Summitt Syndrome
Narrow face, Depressed nasal ridge, Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Ge... ORPHA:3210
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Narrow face, Cone-shaped epiphysis, Narrow nasal bridge, Abnormality of the wrist, Malar flatteni... ORPHA:2511
Craniofrontonasal Dysplasia
Finger syndactyly, Low posterior hairline, Hypertelorism, Depressed nasal ridge, Plagiocephaly, R... ORPHA:1520
Sclerosteosis 2
Frontal bossing, Short finger, Cutaneous finger syndactyly, Thickened calvaria, Nail dysplasia, F... OMIM:614305
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Hypertelorism, Syndactyly... OMIM:175700
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Abn... ORPHA:1515
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Prominent nose, Absent t... OMIM:301026
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Wide nasal bridge, Underdeveloped nasal alae, Micrognathia, Clinodactyly of the 5th finger, Dolic... ORPHA:1516
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Small hand, Ventriculomegaly, Clinodactyly, Anteverted nares, Micrognathia... OMIM:300590
Aminopterin Syndrome Sine Aminopterin
Highly arched eyebrow, Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Fr... OMIM:600325
Achondroplasia
Flat acetabular roof, Limited elbow extension, Knee joint hypermobility, Parietal bossing, Short ... ORPHA:15
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Joint stiffness, Bilateral single transverse palmar creases, ... ORPHA:3237
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Proptosis, Clinodactyly, Anteverted nares, Mi... OMIM:618577
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the hand, Flexion contractu... OMIM:608328
Monosomy 5P
Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Joint hypermobility, Abnorma... ORPHA:281
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Microce... OMIM:211369
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge, Broad thumb, Preaxial hand polydactyly, Radial club hand, Abnormal fingernail ... ORPHA:1278
Gombo Syndrome
Microcephaly, Brachydactyly, Radial deviation of finger, Clinodactyly OMIM:233270
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Single transverse palmar crease, Low anterior hairline... OMIM:615314
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short 5th finger, Choanal atresia, Toe clinodactyly, Aplasia/Hypoplasia of the nails, Proptosis, ... ORPHA:163979
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic fingernail, Cutaneous finger syndactyly, ... OMIM:113000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Ventriculomegaly, Hydrocephalus, Macrocephaly OMIM:615937
Hypochondroplasia
Depressed nasal bridge, Short femoral neck, Flared metaphysis, Trident hand, Malar flattening, Li... OMIM:146000
Camptosynpolydactyly, Complex
Toenail dysplasia, Small nail, Polydactyly, Nail dysplasia, Cutaneous syndactyly, Camptodactyly, ... OMIM:607539
Chromosome 20Q11-Q12 Deletion Syndrome
Finger clinodactyly, Tarsal osteovalgus, Deeply set eye, Adducted thumb, Brachydactyly, Hypertelo... OMIM:614257
1Q21.1 Microduplication Syndrome
Frontal bossing, Macrocephaly, Talipes equinovarus, Hypertelorism, Hydrocephalus, Hip dysplasia, ... ORPHA:250994
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Flat face, Proptosis, Short toe, Micrognathia, Genu ... OMIM:614078
Jawad Syndrome
Retrognathia, Prominent nose, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Anonychia... OMIM:251255
Thiemann Disease, Familial Form
Limitation of joint mobility, Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis m... ORPHA:3314
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Proptosis, Delayed eruption of teeth, Thick eyebrow, Hyp... OMIM:619736
Chromosome 15Q13.3 Deletion Syndrome
Abnormal facial shape, Brachydactyly, Hypertelorism, Clinodactyly of the 5th finger, Synophrys OMIM:612001
Charlie M Syndrome
Wide nasal bridge, Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Abnormal toen... ORPHA:1406
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly, Narrow nasal bridge, Micrognathia, Long eyelashes, Thick eyebrow, Generalized ... ORPHA:1514
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal dental enamel morphology, Bulbous... ORPHA:2180
Ayme-Gripp Syndrome
Wide nasal bridge, Depressed nasal bridge, Flat face, Craniofacial asymmetry, Sparse scalp hair, ... OMIM:601088
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Small epiphys... ORPHA:166016
Muenke Syndrome
Coronal craniosynostosis, Plagiocephaly, Cone-shaped epiphysis, Hypopigmented skin patches, Hyper... ORPHA:53271
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact... OMIM:112700
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Slender finger, Small hand, Broad nasal tip, Sandal gap, Broad hallux, Long nasal bridge, Overlap... OMIM:617755
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Fine hair, Frontal bossing, Bulbous nose, Single transverse palmar crease, Joint hype... ORPHA:2324
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Thickened calvaria, Brachycephaly, Hypertelorism, Craniosynostosis, Increased bone min... ORPHA:178377
Non-Syndromic Bicoronal Craniosynostosis
Proptosis, Brachycephaly, Brachydactyly, Hypertelorism, Metacarpal synostosis ORPHA:35099
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Deeply set eye, Adducted thumb, Brachydactyly, Hypertelorism, Camptodactyly,... ORPHA:444051
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Proptosis, Frontal bossing, Preaxial foot polydactyly,... ORPHA:1540
Crossed Polysyndactyly
Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polyda... ORPHA:2935
Holoprosencephaly 5
Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle ... OMIM:609637
Waardenburg Syndrome, Type 3
Wide nasal bridge, Joint contracture of the hand, Clinodactyly, Hypopigmented skin patches, Carpa... OMIM:148820
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Convex nasal ridge, Mesomelia ORPHA:1277
Hall-Riggs Syndrome
Depressed nasal bridge, Prominent nose, Hypoplasia of the primary teeth, Anteverted nares, Microc... OMIM:234250
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Clinodactyly, Genu valgum, Cutaneous syndacty... ORPHA:166024
Tetrasomy X
Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dysplasia, Clinodactyly of the 5th... ORPHA:9
Thanatophoric Dysplasia Type 1
Depressed nasal bridge, Flat face, Hypoplastic ilia, Ventriculomegaly, Micromelia, Proptosis, Joi... ORPHA:1860
20P13 Microdeletion Syndrome
Highly arched eyebrow, Finger syndactyly, Clinodactyly, Small nail, Prominent nasal bridge, Polyd... ORPHA:313781
Velo-Facial-Skeletal Syndrome
Wide nasal bridge, Narrow face, Prominent fingertip pads, Abnormal thumb morphology, Facial asymm... ORPHA:3424
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Joint hypermobility, Microcephaly, Brachydactyly, Osteoporosis, F... ORPHA:2787
Megalencephaly, Autosomal Dominant
Hydrocephalus, Macrocephaly OMIM:155350
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Depressed nasal bridge, Metaphyseal cupping, Plagiocephaly, High ... OMIM:618853
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation... ORPHA:1453
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Hypoplastic ilia, Delayed vertebral ossification, Hypoplastic iliac wing, Long hallux, Genu valgu... OMIM:613330
Familial Digital Arthropathy-Brachydactyly
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... ORPHA:85169
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Hype... ORPHA:950
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Hypoplastic thumbnail, Short distal phalanx of finger, Short distal phalanx of the thumb, Broad n... ORPHA:370010
Hall-Riggs Syndrome
Wide nasal bridge, Coarse hair, Abnormal epiphysis morphology, Delayed eruption of teeth, Abnorma... ORPHA:2107
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteosclerosis... OMIM:122860
Pfeiffer Syndrome
Choanal atresia, Hypoplasia of the maxilla, Broad thumb, Shortening of all middle phalanges of th... OMIM:101600
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Long face, Short nose, Flat face, Short toe, Brachydactyly, Narrow face, Short di... ORPHA:1327
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Flat face, Highly arched eyebrow, Retrognathia, Bulbous nose, Anteverted nares... OMIM:615979
Tetralogy Of Fallot
Proptosis, Clinodactyly of the 5th finger, Abnormal nasal morphology, Brachydactyly, Dolichocephaly ORPHA:3303
Weaver Syndrome
Broad thumb, Finger syndactyly, Retrognathia, Camptodactyly of finger, Sandal gap, Abnormal finge... ORPHA:3447
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte... OMIM:606835
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Broad thumb, Camptodactyly of finger, Fingernail dysplasia, Type ... ORPHA:1471
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Catel-Manzke Syndrome
Highly arched eyebrow, Ventriculomegaly, Abnormal epiphysis morphology, Camptodactyly of finger, ... ORPHA:1388
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Depressed nasal bridge, Hip osteoarthritis, Broad hallux, Short thumb, Frontal bossing, Premature... OMIM:165800
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Pr... OMIM:203550
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... OMIM:272150
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Clinodactyly, Depressed nasal tip, Brachydactyly, Osteolysis involving bones of the upp... ORPHA:88630
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Proptosis, Malar flattening, Turricephaly, Brachyceph... ORPHA:93262
Feingold Syndrome Type 2
Toe syndactyly, Short thumb, Microcephaly, Abnormal facial shape, Brachydactyly, Short middle pha... ORPHA:391646
Sclerosteosis
Craniofacial hyperostosis, Abnormality of the nose, Finger syndactyly, Fingernail dysplasia, Curv... ORPHA:3152
Acrocephalopolydactyly
Depressed nasal ridge, Oxycephaly, Limb undergrowth, Brachydactyly, Short long bone, Hyperteloris... ORPHA:221054
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Antev... ORPHA:969
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Intellectual Developmental Disorder, Autosomal Recessive 33
Abnormal facial shape, Short toe, Syndactyly OMIM:614341
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Scaphocephaly, Genu valgum, Coarse facial features, Hydrocephalus, Macrocephaly, Dolichocephaly, ... OMIM:248000
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Cleidocranial Dysplasia
Short face, Hypoplastic scapulae, Carious teeth, Micrognathia, Genu valgum, Decreased skull ossif... ORPHA:1452
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Small nail, Cutaneous finger syndactyly, Hyp... OMIM:613573
Spondylometaphyseal Dysplasia, Type A4
Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic humeral metaphysis,... OMIM:609052
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Calvarial skull defect, ... ORPHA:1426
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Proptosis, Reduced bone mineral density, Abnormal metacar... ORPHA:2370
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of finger, Depressed nasal brid... ORPHA:1529
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Microcephaly, Abnormal facial shape, Hydrocephalus, Macrocephaly OMIM:618709
Edinburgh Malformation Syndrome
Choanal atresia, Slender finger, Ulnar deviation of finger, Anteverted nares, Micrognathia, Joint... ORPHA:1895
Frontonasal Dysplasia 1
Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Joint contracture... OMIM:136760
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Hypopigmented skin patches, Abnorma... ORPHA:1825
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Highly arched eyebrow, Hip dislocation, Broad nasal tip, Copper beaten skull, ... OMIM:619451
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Highly arched eyebrow, Toe syndactyly, Sparse lateral e... ORPHA:261120
Gómez-López-Hernández Syndrome
Toenail dysplasia, Anteverted nares, Alopecia of scalp, Turricephaly, Brachycephaly, Hydrocephalu... ORPHA:1532
Wahab Syndrome
Short thumb, Clinodactyly, Ankylosis, Adducted thumb, Camptodactyly, Short foot, Short metacarpal... OMIM:615170
Nicolaides-Baraitser Syndrome
Sparse hair, Highly arched eyebrow, Clubbing of toes, Broad distal phalanx of finger, Abnormal ep... ORPHA:3051
Arthrogryposis, Distal, Type 2B2
Sandal gap, Broad hallux, Short toe, Clinodactyly, Ulnar deviation of the wrist, Overlapping fing... OMIM:618435
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Hypertelorism, Short meta... ORPHA:439822
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Retrognathia, Underdeveloped nasal alae, Proptosis, Micrognathia, ... OMIM:263210
Rubinstein-Taybi Syndrome 2
Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th t... OMIM:613684
Chromosome 15Q26-Qter Deletion Syndrome
Wide nasal bridge, Micrognathia, Microcephaly, Talipes equinovarus, Brachydactyly, Triangular fac... OMIM:612626
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi... OMIM:185900
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Joint hypermobility, Bra... OMIM:619692
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormal hair morphol... OMIM:250460
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Joint stiffness, Joint hypermobility, Bowing of the long bones, Brachydac... ORPHA:40
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Carious teeth, Mandibular osteomyelitis, Abnormal epiphysis morph... ORPHA:53
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal fingern... ORPHA:1275
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Fair hair, Anteverted nares, Malar flattening, Rou... OMIM:614613
Intellectual Disability, Wolff Type
Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Microretrognathia, Limitation of ... ORPHA:3080
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Round face, Flat... OMIM:251450
Emery-Nelson Syndrome
Depressed nasal bridge, Flat face, Camptodactyly of finger, Interphalangeal thumb joint contractu... ORPHA:1927
Larsen-Like Syndrome
Flat face, Dental malocclusion, Radial deviation of the 4th finger, Malar flattening, Absent nasa... OMIM:608545
Symphalangism, Distal
Distal symphalangism of hands, Small nail, Anonychia, Brachydactyly, Craniosynostosis, Distal foo... OMIM:185700
Adams-Oliver Syndrome 2
Depressed nasal bridge, Alopecia, Lateral ventricle dilatation, Small nail, Bulbous nose, Microgn... OMIM:614219
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Malar flattening, Turricephaly, Brachycephaly, Brach... ORPHA:2145
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Wide nasal bridge, Flat face, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Single ... OMIM:613604
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small hand, Clinodactyly, Small nail, Deeply set eye, Hypertelorism, Short foot, Sparse hair, Sho... OMIM:614813
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Single transverse palmar crease, Microcephaly, Adducted thumb, Brachydact... OMIM:620062
Thanatophoric Dysplasia
Depressed nasal bridge, Flat face, Abnormal ilium morphology, Ventriculomegaly, Micromelia, Propt... ORPHA:2655
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Broad nasal tip, Ventriculomegaly, Retrognathia, Prominent fingertip pads,... OMIM:615637
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Hypopigmentation of the skin, Natal tooth, Dental malocclusion, S... OMIM:601957
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Anteverted nares, Micrognathia, Short columella, Malar fl... ORPHA:171839
Acrofrontofacionasal Dysostosis 2
Broad thumb, Proptosis, Broad hallux, Wide nose, Hand polydactyly, Brachycephaly, Hypertelorism, ... OMIM:239710
Robinow Syndrome, Autosomal Recessive 2
Wide nasal bridge, Mesomelia, Broad nasal tip, Broad thumb, Clinodactyly, Prominent fingertip pad... OMIM:618529
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Plagiocephaly, Clinodactyly, Carpal synostosis, Radioulnar synostosis, Syn... OMIM:605282
Tonne-Kalscheuer Syndrome
Wide nasal bridge, Narrow face, Broad thumb, Small nail, Fine hair, Prominent nose, Micrognathia,... OMIM:300978
Chondrodysplasia Punctata, Autosomal Dominant
Coarse hair, Epiphyseal stippling, Knee flexion contracture, Hip contracture, Talipes equinovarus... OMIM:118650
Pentasomy X
Wide nasal bridge, Small hand, Plagiocephaly, Camptodactyly of finger, Micrognathia, Microcephaly... ORPHA:11
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Small hand, Sparse scalp hair, Sparse eyebrow, Trigonocephaly, Scaphoceph... ORPHA:459061
Thanatophoric Dysplasia Type 2
Depressed nasal bridge, Flat face, Ventriculomegaly, Limitation of joint mobility, Micromelia, Pr... ORPHA:93274
Crouzon Syndrome With Acanthosis Nigricans
Choanal atresia, Proptosis, Melanocytic nevus, Brachycephaly, Hydrocephalus, Hypertelorism, Crani... OMIM:612247
Atypical Teratoid Rhabdoid Tumor
Limitation of joint mobility, Hydrocephalus, Macrocephaly ORPHA:99966
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Flat face, Hypoplasia of the maxilla, Ventriculomegaly, Proptosis, Malar flattening, Brachycephal... OMIM:109120
Dysostosis, Stanescu Type
Flat face, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Hypoplasia of... ORPHA:1798
Potocki-Shaffer Syndrome
Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Sparse lateral eyebrow, Single t... OMIM:601224
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Clinodactyly, Malar flattening, Polydactyly, 2-3 toe syndactyly, Postaxia... OMIM:615984
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Proptosis, Bicoronal syno... ORPHA:93258
Dandy-Walker Malformation With Postaxial Polydactyly
Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Dilated fourth ventricle, Postaxial... OMIM:220220
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Absent forearm, Clinodactyly, Short tibia, Oligodactyly, Overlapping toe, Micr... OMIM:201170
Brachydactyly, Type A4
Short middle phalanx of the 5th finger, Aplasia of the middle phalanges of the toes, Short middle... OMIM:112800
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Choanal atresia, Depressed nasal bridge, N... OMIM:207410
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Sparse latera... OMIM:190351
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Round face, Finger joint hyperm... OMIM:618870
Pfeiffer Syndrome
Wide nasal bridge, Flat face, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypopla... ORPHA:710
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Depressed nasal bridge, Macrocephaly, Abnormal nasal morphology, Hydrocephalus, Postaxial hand po... ORPHA:83473
Rhizomelic Dysplasia, Patterson-Lowry Type
Flat face, Depressed nasal ridge, Rhizomelia, Deviation of finger, Large face, Genu valgum, Defor... ORPHA:2831
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Trisomy 4P
Depressed nasal bridge, Carious teeth, Preaxial hand polydactyly, Radial club hand, Camptodactyly... ORPHA:1738
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Acrofacial Dysostosis, Catania Type
Carious teeth, Prominent nose, Micrognathia, Malar flattening, Single transverse palmar crease, M... OMIM:101805
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Generalized hyperpigmentation, Round face, Hypopigmentat... ORPHA:1355
Brachydactyly Type E
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br... ORPHA:93387
Imagawa-Matsumoto Syndrome
Clinodactyly, Hypertrichosis, Melanocytic nevus, Wide nasal ridge, Round face, Hypertelorism, Lar... OMIM:618786
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Kleeblattschaedel
Proptosis, Elbow ankylosis, Hydrocephalus, Craniosynostosis, Cloverleaf skull OMIM:148800
Wolf-Hirschhorn Syndrome
Micrognathia, Low posterior hairline, Radioulnar synostosis, Talipes equinovarus, Short hallux, H... OMIM:194190
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Micrognathia, Malar flattening, Decreased calvarial ossifi... OMIM:614592
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Flared metaphysis, Facial hyperostosis, Nasal congestio... OMIM:218400
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Flat occiput, Clinodactyly, Thick nasal alae, Micrognathia, Malar flattening, Hirsutism, Abnormal... ORPHA:357175
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Micrognathia, Deeply set eye, Hypertelorism, Short foot, Broad nasal ... OMIM:300882
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Abnormality of the nose, Retrognathia, Malar flattening, Abnormality of retinal pi... ORPHA:1390
Houge-Janssens Syndrome 2
Abnormal hair whorl, Ventriculomegaly, Plagiocephaly, Broad hallux, Deviation of the 5th finger, ... OMIM:616362
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Malar flattening, Split hand, Split foot OMIM:183700
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Sparse scalp hair, Carious teeth, Abnormal fingernail morphology, Anteverted nares, Hypoplastic t... ORPHA:2701
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Synostosis of carpal bones, Finger syndactyly, Abnormal dental enamel morphology, Short... ORPHA:1005
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Cranial hyperos... OMIM:123000
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Keipert Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, B... ORPHA:2662
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Dista... OMIM:300863
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone, Anteverted nares, Hypertelorism, Clinodactyly of the 5th finger... ORPHA:3074
Brachydactyly, Type A1, B
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... OMIM:607004
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Depressed nasal ridge, Small hand, Plagiocephaly, Anteverted nares, Prominent occiput, Malar flat... OMIM:618672
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Flat face, Microretrognathia, Limitation of joint mobility, Finge... ORPHA:2994
Craniofacial Conodysplasia
Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand ORPHA:85168
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Highly arched eyebrow, Plagiocephaly, Malar flattening, Hypoplastic toenails, Hypertelorism, Apla... ORPHA:94066
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal femur morphology, Joint h... ORPHA:429
Prieto Syndrome
Retrognathia, Clinodactyly, Radial deviation of finger, Prominent nose, Talipes equinovarus, Hype... OMIM:309610
Filippi Syndrome
Wide nasal bridge, Sparse hair, 2-4 toe syndactyly, Proptosis, Finger clinodactyly, Underdevelope... OMIM:272440
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Dentinogenesis imperfecta, Microretrognath... OMIM:616294
Coffin-Siris Syndrome 2
Depressed nasal bridge, Short distal phalanx of finger, Sparse scalp hair, Delayed eruption of te... OMIM:614607
Microcephalic Primordial Dwarfism, Toriello Type
Ventriculomegaly, Abnormal epiphysis morphology, Microcephaly, Enamel hypoplasia, Brachydactyly ORPHA:2643
Rothmund-Thomson Syndrome, Type 3
Depressed nasal bridge, Short distal phalanx of finger, Microretrognathia, Osteopenia, Sparse eye... OMIM:615789
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Malar flattening, Absent nasal bridge... OMIM:612813
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Brachycephaly, Convex nasal ridge, Hyp... ORPHA:1695
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Clinodactyly of the 5th finger, Synophry... ORPHA:3268
Alopecia-Intellectual Disability Syndrome
Alopecia, Sparse body hair, Microcephaly, Abnormal nasal morphology, Brachydactyly, Split hand, A... ORPHA:2850
Coccidioidomycosis
Increased CSF protein concentration, Hypoglycorrhachia, Osteomyelitis, Abnormal long bone morphol... ORPHA:228123
Al-Raqad Syndrome
Flat face, Hypopigmentation of the skin, Sandal gap, Joint hypermobility, Deeply set eye, Microce... OMIM:616459
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Radioulnar synostosis, Hypertelorism, Lobar holoprosencephaly, Short nose, Syndactyly, Flat face,... OMIM:614701
Spondylometaphyseal Dysplasia, X-Linked
Wide nasal bridge, Depressed nasal bridge, Short finger, Hyperextensibility of the finger joints,... OMIM:313420
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Depressed nasal bridge, Hemiatrophy of upper limb, Frontal bossing, Short nose, A... ORPHA:163649
Mosaic Trisomy 20
Craniofacial asymmetry, Retrognathia, Clinodactyly, Micrognathia, Down-sloping shoulders, Limited... ORPHA:1724
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Prominent nose, Hypertelorism, Bilateral talipes equinovarus, ... ORPHA:2958
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Toenail dysplasia, Hypoplastic fifth fingernail, Absent toenail, Generalized hirsutism, Biparieta... ORPHA:1292
Masa Syndrome
Ventriculomegaly, Microcephaly, Talipes equinovarus, Adducted thumb, Hydrocephalus, Macrocephaly OMIM:303350
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Highly arched eyebrow, Ventriculomegaly, Underdeveloped nasal alae, Camptodactyly of finger, Micr... ORPHA:2083
Tetrasomy 5P
Wide nasal bridge, Flat face, Anteverted nares, Micrognathia, Overlapping toe, Talipes equinovaru... ORPHA:3309
Brachydactyly Type C
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... ORPHA:93384
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Depressed nasal bridge, Carious teeth, Short distal phal... OMIM:617102
Intellectual Developmental Disorder, Autosomal Recessive 68
Wide nasal bridge, Hypoplasia of the maxilla, Microcephaly, Broad eyebrow, Hydrocephalus, Synophrys OMIM:618302
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Flat face, Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long bo... OMIM:224400
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Hypertelorism, ... OMIM:311300
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Anauxetic Dysplasia 2
Small nail, Hypoplasia of the femoral head, Cubitus valgus, Hypoplastic iliac body, Nail dysplasi... OMIM:617396
Lujan-Fryns Syndrome
Narrow face, Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal br... ORPHA:776
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Ventriculomegaly, Polydactyly, Joint hypermobility, Progressive macroceph... OMIM:602501
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Micrognathia, Genu v... ORPHA:2496
11Q22.2Q22.3 Microdeletion Syndrome
Depressed nasal bridge, Small hand, Micrognathia, Thick eyebrow, Bilateral single transverse palm... ORPHA:444002
Intellectual Developmental Disorder, Autosomal Recessive 35
Flat occiput, Clinodactyly, Thick nasal alae, Micrognathia, Malar flattening, Hirsutism, Coarse f... OMIM:615162
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encepha... OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 70
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Broad nasal tip, Retrognathi... OMIM:620157
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Proptosis, Hypopigmented skin patches, Multiple sutur... ORPHA:207
Trichorhinophalangeal Syndrome Type 2
Wide nasal bridge, Ventriculomegaly, Thick nasal alae, Bulbous nose, Avascular necrosis of the ca... ORPHA:502
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Jo... ORPHA:137834
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Apl... ORPHA:93357
Roifman Syndrome
Epiphyseal dysplasia, Prominent eyelashes, Short toe, Underdeveloped nasal alae, Narrow nasal bri... ORPHA:353298
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Hypopigmented skin pat... ORPHA:1295
Trisomy 9P
Hypoplastic fingernail, Impacted tooth, Fingernail dysplasia, Bilateral single transverse palmar ... ORPHA:236
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Short thumb,... ORPHA:2251
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly ORPHA:1078
Metatropic Dysplasia
Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph... OMIM:156530
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Natal tooth, Sandal gap, Widely spaced toes, Alopecia totalis, Mitten defor... OMIM:609638
Frontal Encephalocele
Calvarial skull defect, Encephalocele, Hydrocephalus, Spina bifida, Macrocephaly, Dolichocephaly,... ORPHA:1931
Aminopterin/Methotrexate Embryofetopathy
Wide nasal bridge, Spinal dysraphism, Proptosis, Finger syndactyly, Micromelia, Small nail, Abnor... ORPHA:1908
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly... OMIM:620073
Eem Syndrome
Carious teeth, Finger syndactyly, Ectrodactyly, Sparse body hair, Abnormality of retinal pigmenta... ORPHA:1897
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Flat face, Hypoplastic ilia, Limitation of joint mobility, Micromelia, Proptos... ORPHA:1865
2q37 monosomy
Round face, Brachydactyly, Deeply set eye DECIPHER:44
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, De... OMIM:617866
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Limitation of joint mobility, Micrognathia, Fibular bowing, Abnormal pelvis... ORPHA:1427
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Premature osteoarthritis, Dislocation of the femoral... ORPHA:93307
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Joint hypermobility,... ORPHA:60040
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Absent nasal bridge, Joint hypermobility, Brachydactyly, Relative macroc... ORPHA:171866
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Joint hypermobility ORPHA:238446
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Short 1st metacarpal, Short first metatarsal, Anteverted nares, Micrognath... OMIM:619135
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Hypertelorism, Tibial metaphyseal irregular... ORPHA:457395
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Sparse eyebrow, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 fin... OMIM:225280
Acrocallosal Syndrome
Macrocephaly, Prominent occiput, Triphalangeal thumb, Dandy-Walker malformation, Postaxial hand p... ORPHA:36
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Delayed eruption of teeth, Clinodactyly, Hypertrichosis, Bulbous nose, Anteverte... OMIM:616354
Temple Syndrome
Depressed nasal bridge, Small hand, Clinodactyly, Flexion contracture, Anteverted nares, Microgna... OMIM:616222
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Areas of hypopigmentation and hyperpigmentation that do no... OMIM:210720
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Depressed nasal bridge, Ventriculomegaly, Plagiocephaly, Medial flaring of the eyebrow, Long eyel... OMIM:619833
Temple-Baraitser Syndrome
Broad thumb, Long hallux, Absent toenail, Hypertelorism, Wide nose, Thick nasal alae, Long eyelas... ORPHA:420561
Intellectual Developmental Disorder, Autosomal Recessive 61
Highly arched eyebrow, Prominent fingertip pads, Secondary microcephaly, Bulbous nose, Prominent ... OMIM:617773
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Proptosis, Myelomeningoc... ORPHA:1914
Opsismodysplasia
Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Joint stiffness, Abnormally o... ORPHA:2746
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Hypertelorism, Short ... OMIM:166250
Alkuraya-Kucinskas Syndrome
Depressed nasal bridge, Hand clenching, Plagiocephaly, Ventriculomegaly, Clinodactyly, Anteverted... OMIM:617822
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Whistling Face Syndrome, Recessive Form
Ulnar deviation of finger, Shoulder flexion contracture, Underdeveloped nasal alae, Elbow flexion... OMIM:277720
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Hemifacial atrophy, Deeply set eye, Patchy alopec... OMIM:141300
Premature Aging Syndrome, Penttinen Type
Micrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Hypertelorism, Short foot... OMIM:601812
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Scaphocephaly, Prominent nose, Abnormal cortical bone morphology, Abnormality ... OMIM:614886
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, Hypertelorism, Short foot, Short metacarpal, Hypoplasia... OMIM:170390
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Proptosis, Anteverted nares, Limb u... OMIM:618961
Cardiocranial Syndrome, Pfeiffer Type
Wide nasal bridge, Slender finger, Abnormal hair whorl, Small hypothenar eminence, Cutaneous synd... ORPHA:2872
Osteoglosphonic Dysplasia
Choanal atresia, Rhizomelia, Anteverted nares, Micrognathia, Multiple unerupted teeth, Brachydact... ORPHA:2645
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Depressed nasal bridge, Delayed eruption of teeth, Underdeveloped nasal alae, Thick eyebrow, Macr... ORPHA:2025
Craniosynostosis 2
Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Hypotelorism, Turricephaly, Brachyce... OMIM:604757
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Flat face, Carious teeth, Flared metaphysi... ORPHA:93346
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide nasal bridge, Ventriculomegaly, Cone-shaped epiphysis, Short toe, Broad hallux, Short finger... OMIM:618659
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly OMIM:611808
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Wide nasal bridge, Small hand, Clinodactyly, Thick eyebrow, Abnormal facial shape, Brachydactyly,... OMIM:614684
Moebius Syndrome
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Hand clenching, Clinodactyly, Rad... OMIM:157900
Trisomy 5P
Ventriculomegaly, Abnormal metacarpal morphology, Round face, Hypertelorism, Macrocephaly, Dolich... ORPHA:1742
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Frontal bossing, Aplasia of the pro... ORPHA:2256
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Ventriculomegaly, Horizontal eyebrow, Hypertrichosis, Long eyelashes, Micrognathia, Thick eyebrow... OMIM:618381
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Cone-shaped epiphysis, Palmoplantar keratoderma, Abnormal fingernail morphology, Malar prominence... ORPHA:2824
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Hydrocephalus, Abnormal eyelash morpho... ORPHA:1008
Holoprosencephaly-Craniosynostosis Syndrome
Short distal phalanx of finger, Plagiocephaly, Clinodactyly of the 5th finger, Abnormality of ret... ORPHA:2163
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, Frontal upsweep of hair, Hypertelorism, Short nose, Bulbous nose, Low anterior hair... OMIM:617061
Temtamy Syndrome
Highly arched eyebrow, Hip dislocation, Ventriculomegaly, Micrognathia, Talipes equinovarus, Brac... OMIM:218340
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Square face, Sandal gap, Preaxial polydactyly,... OMIM:617927
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Dental malocclusi... OMIM:616331
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Plagiocephaly, Proptosis, Micromelia, Abnormal diap... ORPHA:2021
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Round face, Complete d... ORPHA:363417
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Broad columella, Underdev... OMIM:250410
Chst3-Related Skeletal Dysplasia
Highly arched eyebrow, Rhizomelia, Sparse eyebrow, Delayed eruption of teeth, Irregular epiphyses... ORPHA:263463
20P12.3 Microdeletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Ventriculomega... ORPHA:261295
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Sparse scalp hair, Finger syndactyly, Supernumerary nipple, Bilateral... ORPHA:1001
Rubinstein-Taybi Syndrome
Wide nasal bridge, Highly arched eyebrow, Clubbing of toes, Carious teeth, Broad thumb, Finger sy... ORPHA:783
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphology, Micrognat... ORPHA:251014
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic... OMIM:260660
Robinow-Sorauf Syndrome
Flat face, Broad thumb, Plagiocephaly, Broad hallux, Narrow nose, Malar flattening, Duplication o... OMIM:180750
Intellectual Developmental Disorder, X-Linked 30
Flat face, Prominent fingertip pads, Anteverted nares, Prominent nasal bridge, Deeply set eye, Mi... OMIM:300558
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Aplasia/Hypoplasia of the thumb,... ORPHA:2378
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Extra-axial cerebrospinal fluid accumu... OMIM:614261
Congenital Hydrocephalus
Ventriculomegaly, Bulbous nose, Colpocephaly, Facial asymmetry, Hydrocephalus, Macrocephaly, Fron... ORPHA:2185
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Proptosis, Micromelia, Micrognathia, Femoral bowing, Dumbbell-s... ORPHA:440354
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Retrognathia, Slender long bone, Trigonocephaly, Micrognathia, Decreased calvarial... OMIM:618265
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Diastrophic Dysplasia
Depressed nasal bridge, Ulnar deviation of finger, Abnormal epiphysis morphology, Elbow dislocati... ORPHA:628
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Bulbous nose, Anteverted nares, Long ey... OMIM:102370
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Enamel hypoplasia, Hypoplasi... OMIM:212780
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Blepharo-Cheilo-Odontic Syndrome
Carious teeth, Finger syndactyly, Distichiasis, Abnormal hair quantity, Hypertelorism ORPHA:1997
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Depressed nasal ridge, Flat face, Retrognathia, Patellar hypoplasia, Anteverted nares, Deeply set... ORPHA:464288
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Frontal bossing, Ab... ORPHA:3082
15Q24 Microdeletion Syndrome
Wide nasal base, Depressed nasal bridge, Small hand, High anterior hairline, Clinodactyly, Myelom... ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Small hand, Ventriculomegaly, Sandal gap, Bulbous nose, Joint hypermobili... OMIM:300354
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal calvaria morphology, Synostosis of carpal bones, Finger syndactyly, Proptosis, Camptodac... ORPHA:1323
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Broad hallux, Micrognathia, Sin... OMIM:614541
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Limitation of joint mobility, Micromel... ORPHA:2639
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, Hypertelorism, Syndactyly, Hypoplasia of the maxilla, B... OMIM:252100
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Delayed eruption of teeth, Round face, Enamel hypoplasia, Brachydactyly, ... OMIM:612463
Radio-Tartaglia Syndrome
Small nail, Micrognathia, Deeply set eye, Prominent nasal tip, Hypertelorism, Long eyebrows, Long... OMIM:619312
Acrofrontofacionasal Dysostosis
Short distal phalanx of finger, Broad thumb, Broad nasal tip, Abnormal epiphysis morphology, Micr... ORPHA:1784
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Ventriculomegaly, Retrognathia, Hypoplasia of the zygomatic bone, Sandal ... ORPHA:1812
ERI1-related disease
Micrognathia, Finger joint hypermobility, Dislocated radial head, Sparse hair, Long face, Hip dis... OMIM:608739
Weyers Acrofacial Dysostosis
Postaxial foot polydactyly, Small nail, Hypotelorism, Nail dysplasia, Brachydactyly, Postaxial ha... OMIM:193530
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Inverted Duplicated Chromosome 15 Syndrome
Broad nasal tip, Joint hypermobility, 2-3 toe syndactyly, Microcephaly, Brachycephaly, Abnormal f... ORPHA:3306
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Hypoplastic iliac wing, Brachydactyly, Hip d... ORPHA:1858
Pfeiffer Syndrome Type 2
Deviation of the thumb, Depressed nasal bridge, Choanal atresia, Small hand, Toe syndactyly, Fing... ORPHA:93259
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Hypertelorism, Genu varum, Short nose, Osteopenia, Bulbous nose, Small epiphyses, Li... OMIM:271510
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Deeply set eye, Sho... ORPHA:2710
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Facial asymmetry, Clino... ORPHA:376
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation, Macrocephaly OMIM:607091
Cranioectodermal Dysplasia 3
2-4 toe syndactyly, Rhizomelia, Short nail, Sandal gap, Fine hair, Scaphocephaly, Micrognathia, J... OMIM:614099
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Delayed eruption of primary teeth, Deeply set eye, Hypertelorism, S... ORPHA:819
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Calvarial hyperostosis, Hypertelorism, Dislocated radial head, Cone-shaped epiphyses... OMIM:101800
Temple-Baraitser Syndrome
Hypoplastic thumbnail, Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Broad... OMIM:611816
Lethal Kniest-Like Dysplasia
Flat face, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morphology, ... ORPHA:2347
Intellectual Developmental Disorder, Autosomal Dominant 59
Flat face, Highly arched eyebrow, Brachydactyly, Macrocephaly, Short foot, Short palm, Fragile nails OMIM:618522
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Rhizomelia, Abnormal epiphysis morphology, Frontal bossing, Micrognathia, Abno... ORPHA:93267
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Micrognathia, Hypertelorism, Macrocephaly, Frontal boss... OMIM:618272
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Absent toenail, Diaphyseal undertubulation, Finger ... OMIM:620663
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Bilateral triphalangeal thumbs, Toe syndactyly, Small nail, Absent middle phalanx of 5th finger, ... OMIM:124480
6Q25 Microdeletion Syndrome
Wide nasal bridge, Ventriculomegaly, Plagiocephaly, Camptodactyly of finger, Micrognathia, Malar ... ORPHA:251056
Hoxha-Aliu Syndrome
Overlapping toe, Absent toenail, Absent fifth metatarsal, Short distal phalanx of the 5th finger,... OMIM:620662
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Delayed eruption of teeth, Short toe, Short finger, Thickened calvaria, R... OMIM:103580
Blepharocheilodontic Syndrome 1
Choanal atresia, Flat face, High anterior hairline, Small nail, Clinodactyly, Nail dysplasia, Dis... OMIM:119580
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Sparse hair, Enamel hypoplasia, Syndactyly OMIM:613576
Arthrochalasia Ehlers-Danlos Syndrome
Depressed nasal bridge, Retrognathia, Avascular necrosis of the capital femoral epiphysis, Microg... ORPHA:1899
Acrocraniofacial Dysostosis
Broad thumb, Micrognathia, Genu valgum, Abnormal toenail morphology, Hypertelorism, Choanal atres... ORPHA:949
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Microcephaly, Coarse facial features, Brachydactyly, Short foot, Widow's peak OMIM:266265
Distal Deletion 10Q
Clinodactyly, Lateral ventricle dilatation, Micrognathia, Hip dislocation, Short nose, Prominent ... ORPHA:96148
Shprintzen-Goldberg Craniosynostosis Syndrome
Joint contracture of the hand, Micrognathia, Genu valgum, Arachnodactyly, Talipes equinovarus, Hy... OMIM:182212
Williams-Beuren Region Duplication Syndrome
Ventriculomegaly, Broad nasal tip, Horizontal eyebrow, Long eyelashes, Micrognathia, Deeply set e... OMIM:609757
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Proptosis, Sandal gap, Hypoplasia of the zygomatic bone, Micromelia, Broad hallux, Fine hair, Thi... OMIM:614800
Pycnodysostosis
Aplastic clavicle, Carious teeth, Delayed eruption of permanent teeth, Prominent occiput, Microgn... OMIM:265800
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Oxycephaly, Preaxial foot polydactyly, Genu valgu... ORPHA:65759
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Highly arched eyebrow, Delayed eruption of teeth, Underdeveloped nasal alae, Anteverted nares, Pr... OMIM:618825
Hydrocephalus, Autosomal Dominant
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation OMIM:123155
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly ORPHA:2266
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Depressed nasal bridge, Arthrogryposis-like hand anomaly, Plagiocephaly, Horiz... ORPHA:369891
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Arthrogryposis multiplex congenita, Retrognathia, Clinodactyly, F... OMIM:615547
Chromosome 2Q37 Deletion Syndrome
Depressed nasal bridge, Highly arched eyebrow, Broad nasal tip, Short toe, Anteverted nares, Broa... OMIM:600430
Smith-Kingsmore Syndrome
Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Ventriculomegaly, Macrocephal... OMIM:616638
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Syndactyly OMIM:226700
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Short 5th metacarpal, Abnormality of retinal pigmentation, Abnormality of the hand, ... ORPHA:1264
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Short thumb, Clinodactyly, Abnormality of the nose, Single... ORPHA:1708
Sclerosteosis 1
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dental maloccl... OMIM:269500
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat... ORPHA:2633
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Bowing of the long bones, Hypertelorism, Mandibular progn... OMIM:259775
Pycnodysostosis
Small hand, Carious teeth, Hypoplastic iliac wing, Micrognathia, Delayed eruption of primary teet... ORPHA:763
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Small hand, Toe syndactyly, Secondary microcephaly, Micrognathia, Limited elbow movement, Short f... OMIM:610759
Hypomelanosis Of Ito
Alopecia, Radial deviation of finger, Clinodactyly, Macular hypopigmented whorls, streaks, and pa... OMIM:300337
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Wide nasal bridge, Depressed nasal bridge, Multiple rows of eyelashes, Broad long bones, Aplasia/... ORPHA:163654
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Limitation of joint mobility, Hypoplastic iliac wing, Genu valgum, Multicen... OMIM:223800
Intellectual Developmental Disorder, Autosomal Dominant 65
Wide nasal bridge, Sparse hair, Bulbous nose, Anteverted nares, Micrognathia, Thin eyebrow, Singl... OMIM:619320
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Large hands, Hypertelorism, Short metacarpal, Wide nose, Hypoplasia of... ORPHA:192
Laron Syndrome
Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth, Aplasia/Hypoplasia in... ORPHA:633
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Malar ... ORPHA:93328
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Hypertelorism, Flattened epiphysis, Broad nasal tip, Small epiphyses, Low anterior hairline, Brac... OMIM:300232
Cooks Syndrome
Broad thumb, Dystrophic toenail, Abnormal toenail morphology, Dystrophic fingernails, Aplastic/hy... ORPHA:1487
Suleiman-El-Hattab Syndrome
Wide nasal bridge, Highly arched eyebrow, Microretrognathia, Clinodactyly, Thick eyebrow, Single ... OMIM:618950
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... OMIM:271700
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Frontal upsweep of hair, ... OMIM:305450
Erythrokeratodermia Variabilis
Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Patchy palmoplantar hyperkeratos... ORPHA:317
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Round face, Shor... OMIM:611717
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... ORPHA:93308
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Roifman Syndrome
Prominent eyelashes, Short toe, Underdeveloped nasal alae, Narrow nose, Anteverted nares, Irregul... OMIM:616651
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Hypopigmented skin pat... ORPHA:3121
Short Stature-Wormian Bones-Dextrocardia Syndrome
Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Depressed nasal tip, Micro... ORPHA:2863
Pseudopseudohypoparathyroidism
Short 5th finger, Short distal phalanx of the thumb, Ectopic ossification, Short 5th metacarpal, ... ORPHA:79445
Jackson-Weiss Syndrome
Coronal craniosynostosis, Proptosis, Broad hallux, Short first metatarsal, Malar flattening, 2-3 ... OMIM:123150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcane... ORPHA:163966
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Char Syndrome
Depressed nasal ridge, Depressed nasal bridge, Toe syndactyly, Supernumerary nipple, Mesoaxial fo... ORPHA:46627
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Depressed nasal bridge, Flat face, Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Severe l... OMIM:151210
Atelosteogenesis Type Ii
Wide nasal base, Elbow dislocation, Micrognathia, Genu valgum, Broad phalanx, Hypertelorism, Bila... ORPHA:56304
Rhombencephalosynapsis
Ventriculomegaly, Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Hydrocepha... ORPHA:59315
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Prominent crus of helix, Bilateral single transverse palmar creas... ORPHA:794
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Overlapping toe, Micrognathia, Frontal upsweep of hair, Limited elbow... ORPHA:221120
Fountain Syndrome
Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ... ORPHA:3219
Apert Syndrome
Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal b... OMIM:101200
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Coronal craniosynostosis, Osteopenia, Natal tooth, Abnormal per... ORPHA:313855
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Depressed nasal bridge, Joint contracture of the hand, Osteopenia, Dental malocclusion, Delayed e... OMIM:612350
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Trisomy 1Q
Aplasia/Hypoplasia of the nails, Depressed nasal bridge, Ventriculomegaly, Microretrognathia, Toe... ORPHA:261344
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Depressed nasal bridge, Flat face, Abnormal facial shape, Hypertelorism, Camptodactyly, Osteoporo... OMIM:616006
Coffin-Siris Syndrome 6
Depressed nasal bridge, Plagiocephaly, Broad nasal tip, Retrognathia, Clinodactyly, Micrognathia,... OMIM:617808
Aarskog-Scott Syndrome
Wide nasal bridge, Hypoplasia of the maxilla, Small hand, High anterior hairline, Finger syndacty... ORPHA:915
Lowry-Maclean Syndrome
Generalized hypertrichosis, Choanal atresia, Hypoplasia of the maxilla, Osteopenia, Proptosis, Re... ORPHA:2409
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, M... OMIM:620072
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Hirsutism, Deeply set eye, Hypertelorism, Sparse hair, Mandibular prognathia, Short... OMIM:618087
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Hypopigmented skin patches, Preaxial hand polydac... ORPHA:1553
Acrofacial Dysostosis, Catania Type
Small hand, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Finger syndactyly... ORPHA:1786
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Depressed nasal bridge, Clinodactyly, Tracheomalacia, Anteverted nares, Micrognathia, Microcephal... OMIM:217980
Acalvaria
Calvarial skull defect, Hydrocephalus, Spina bifida, Postaxial hand polydactyly, Holoprosencephal... ORPHA:945
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Depressed nasal bridge, Highly arched eyebrow, Sandal gap, Camptodactyly of finger, Supernumerary... OMIM:619951
Myopathy, Centronuclear, X-Linked
Narrow face, Dental malocclusion, Arachnodactyly, Slender toe, Hydrocephalus, Macrocephaly, Dolic... OMIM:310400
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar... OMIM:118651
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypertelorism, C... ORPHA:87
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Finger syndactyly, Anteverted nares, Micrognathia, Prominent nasal bridge,... ORPHA:1974
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Hydranencephaly, Microretrognathia, Bulbous nose, Anteverted nares, Single transverse palmar crea... OMIM:236500
Metatropic Dysplasia
Depressed nasal bridge, Coarse metaphyseal trabecularization, Abnormal enchondral ossification, M... ORPHA:2635
Codas Syndrome
Flat face, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Congenital hip disloca... ORPHA:1458
Non-Distal Deletion 10Q
Wide nasal bridge, Overlapping fingers, Bilateral single transverse palmar creases, Brachydactyly... ORPHA:1581
Brachydactyly, Type E2
Short metatarsal, Brachydactyly, Delayed eruption of teeth, Short metacarpal OMIM:613382
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Osteopenia, Bulbous nose, Malar flattening, Hypotelorism, Joint hyper... OMIM:612940
Trisomy 17P
High anterior hairline, Thick nasal alae, Prominent nose, Micrognathia, Malar flattening, Low pos... ORPHA:261290
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... ORPHA:3103
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Marfanoid-Progeroid-Lipodystrophy Syndrome
Proptosis, Retrognathia, Narrow nose, Scaphocephaly, Prominent nasal bridge, Melanocytic nevus, D... OMIM:616914
Joubert Syndrome 10
Wide nasal bridge, Postaxial foot polydactyly, Hirsutism, Microcephaly, Brachydactyly, Macrocepha... OMIM:300804
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Proptosis, Orbital craniosynosto... OMIM:112240
Melanocytic Nevus Syndrome, Congenital
Broad nasal tip, Congenital giant melanocytic nevus, Anteverted nares, Prominence of the premaxil... OMIM:137550
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Kleefstra Syndrome 1
Flat face, Natal tooth, Persistence of primary teeth, Anteverted nares, Malar flattening, Single ... OMIM:610253
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Limitation of joint mobility, Short toe, Osteoarthritis of the el... ORPHA:2619
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Hypoplastic ilia, Proptosis, Micromelia, Prominent occiput, Postaxial pol... OMIM:617895
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Monosomy 18P
Wide nasal bridge, Alopecia, Carious teeth, Micrognathia, Low posterior hairline, Microcephaly, B... ORPHA:1598
Al-Gazali-Bakalinova Syndrome
Wide nasal bridge, Depressed nasal bridge, Epiphyseal dysplasia, Clinodactyly, Genu valgum, Malar... OMIM:607131
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Elbow flexion contracture, Microcephaly, Small nail, Hydrocephalus OMIM:619470
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Arachnodactyly, Short foot, Long face, Plagiocephaly, Bulbous nose, Knee flexion con... OMIM:613776
Kury-Isidor Syndrome
Alopecia, Finger syndactyly, Hypertrichosis, Anteverted nares, Deeply set eye, Talipes equinovaru... OMIM:619762
Oculomaxillofacial Dysostosis
Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Camptodactyly of finger, M... ORPHA:1794
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Larsen Syndrome
Depressed nasal bridge, Flat face, Broad thumb, Short distal phalanx of finger, Finger syndactyly... ORPHA:503
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Sparse eyel... OMIM:257850
Cole-Carpenter Syndrome
Proptosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Abnormal m... ORPHA:2050
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna... OMIM:215140
Growth Retardation, Developmental Delay, And Facial Dysmorphism