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Gene: B3glct MGI:2685903

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with B3glct (2 diseases)
Human diseases predicted to be associated with B3glct (1515 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Peters-Plus Syndrome		Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Hypoplasia of the max...	OMIM:261540
Peters Plus Syndrome		Micromelia, Micrognathia, Brachycephaly, Clinodactyly of the 5th finger, Spina bifida occulta, Lo...	ORPHA:709

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

Disease	Matching phenotypes	Source
X-Linked Intellectual Disability, Stoll Type	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Hypertelorism, Broad nasal tip, Wido...	ORPHA:85326
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Achard Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly	OMIM:100700
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Frontal bossing, Hypertelorism, Micrognathia, Hydrocephalus, Dolichocephaly, Dandy-Walker malform...	ORPHA:1538
Microcephaly 4, Primary, Autosomal Recessive	Hypertelorism, Micrognathia, Synophrys, Thick eyebrow, Low hanging columella	OMIM:604321
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, 2-5 finger cutaneous syndactyly, Toe syndactyly, Small hypothenar eminence, Ab...	ORPHA:3246
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Frontal bossing, Microcephaly, Micrognathia, Hypertelorism, Synophrys, Wide nasal bridge, Ventric...	ORPHA:3207
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Tapered finger, Broad nasal tip, Hypertelorism, Wide nasal bridge, Narrow jaw, Thin eyebrow, Macr...	OMIM:618147
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Macrocephaly, Dolicho...	ORPHA:168624
Muenke Syndrome	Broad hallux, Hypertelorism, Capitate-hamate fusion, Low anterior hairline, Brachycephaly, Cone-s...	OMIM:602849
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Developmental And Epileptic Encephalopathy 36	Microretrognathia, Coarse facial features, Anteverted nares, Microcephaly, Hypertelorism, Hydroce...	OMIM:300884
Intellectual Developmental Disorder, Autosomal Recessive 74	Relative macrocephaly, Mandibular prognathia, Long face, Dolichocephaly, Prominent nose, Wide nas...	OMIM:617169
Phenobarbital Embryopathy	Mandibular prognathia, Brachydactyly, Microcephaly, Hypertelorism, Aplasia/Hypoplasia of fingers,...	ORPHA:1919
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Macrocephaly, Ventriculomegaly	OMIM:615938
Keipert Syndrome	Joint laxity, Midface retrusion, Wide nose, Broad hallux, Prominent nose, Hypertelorism, Macrocep...	OMIM:301026
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Weill-Marchesani Syndrome 1	Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Broad skull...	OMIM:277600
Temtamy Syndrome	Long face, Coarse facial features, Facial asymmetry, Micrognathia, Hypertelorism, Short toe, Genu...	ORPHA:1777
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Depressed nasal bridge, Rhizomelia, Microcephaly, Abnormality of the hume...	ORPHA:3098
Delayed Membranous Cranial Ossification	Frontal bossing, Hypertelorism, Depressed nasal ridge, Prominent occiput, Decreased skull ossific...	ORPHA:3034
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, 1-3 toe s...	OMIM:175700
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Frontal bossing, Craniosynostosis, Hyper...	ORPHA:380
Summitt Syndrome	Finger syndactyly, Wide nose, Narrow face, Camptodactyly of finger, Craniosynostosis, Hypertelori...	ORPHA:3210
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Flat occiput, Narrow face, Long face, ...	ORPHA:2511
Sclerosteosis 2	Mandibular prognathia, Frontal bossing, Hypertelorism, Cutaneous finger syndactyly, Short finger,...	OMIM:614305
Craniofrontonasal Dysplasia	Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly, Broad ha...	ORPHA:1520
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Frontal bossing, Abnormal fingernail morphology, Anteverted nar...	ORPHA:1515
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Frontal bossing, Craniosynostosis, Micrognathia, Underdeveloped nasal alae, Hypertelorism, Hydroc...	ORPHA:1516
Cornelia De Lange Syndrome 2	Thick eyebrow, Ventriculomegaly, Anteverted nares, Prominent nasal bridge, Proximal placement of ...	OMIM:300590
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly a...	OMIM:600325
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Facial asymmetry, Joint stiffness, Symphalangism affe...	ORPHA:3237
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ventriculomegaly, Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Hypertelorism, Hy...	OMIM:618577
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Chromosome 20Q11-Q12 Deletion Syndrome	Frontal bossing, Brachydactyly, Hypertelorism, Tarsal osteovalgus, Finger clinodactyly, Deeply se...	OMIM:614257
Weill-Marchesani Syndrome 2	Short metacarpal, Thin bony cortex, Depressed nasal bridge, Joint stiffness, Hypoplasia of the ma...	OMIM:608328
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Brachydactyly, Type A2, With Microcephaly	Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti...	OMIM:211369
Craniosynostosis 3	Hallux valgus, Right unicoronal synostosis, Single transverse palmar crease, Sagittal craniosynos...	OMIM:615314
Monosomy 5P	Microretrognathia, Finger syndactyly, Round face, Recurrent fractures, Hypertelorism, Small hand,...	ORPHA:281
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Choanal atresia, Microceph...	ORPHA:163979
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Brachydactyly-Preaxial Hallux Varus Syndrome	Frontal bossing, Short metacarpal, Abnormal fingernail morphology, Micrognathia, Preaxial hand po...	ORPHA:1278
Gombo Syndrome	Clinodactyly, Microcephaly, Radial deviation of finger, Brachydactyly	OMIM:233270
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Osteopenia, Sparse scalp hair, Frontal bossing, Recurrent fractures, Singl...	ORPHA:2324
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:615937
Camptosynpolydactyly, Complex	Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail...	OMIM:607539
1Q21.1 Microduplication Syndrome	Frontal bossing, Hypertelorism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovaru...	ORPHA:250994
Ayme-Gripp Syndrome	Mandibular prognathia, Sparse scalp hair, Depressed nasal bridge, Tapered finger, Hypertelorism, ...	OMIM:601088
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Hypertelorism, Midface retrusion, Micrognathia	OMIM:611913
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ...	OMIM:614078
Metaphyseal Acroscyphodysplasia	Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micro...	ORPHA:1240
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac...	ORPHA:3314
20Q11.2 Microdeletion Syndrome	Frontal bossing, Brachydactyly, Hypertelorism, Finger clinodactyly, Deeply set eye, Camptodactyly...	ORPHA:444051
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no...	OMIM:251255
Chromosome 15Q13.3 Deletion Syndrome	Hypertelorism, Synophrys, Clinodactyly of the 5th finger, Abnormal facial shape, Brachydactyly	OMIM:612001
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hyper...	ORPHA:1540
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Hypertelorism, Wi...	OMIM:619736
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Hypertelorism, Split hand, Wide ...	ORPHA:1406
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Anteverted nares, Abnormal dental enamel morphology, Prominent...	ORPHA:2180
Hypochondroplasia	Frontal bossing, Brachydactyly, Depressed nasal bridge, Flared metaphysis, Short long bone, Short...	OMIM:146000
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Brachyce...	ORPHA:1514
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis, Hypertelorism, Brachycephaly, Thicke...	ORPHA:178377
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypertelorism, Hydrocephalus,...	ORPHA:53271
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Micrognathia, Hypertelorism, De...	ORPHA:166016
Non-Syndromic Bicoronal Craniosynostosis	Hypertelorism, Brachycephaly, Proptosis, Metacarpal synostosis, Midface retrusion, Brachydactyly	ORPHA:35099
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Broad hallux, Overlapping toe, Sandal gap, Broad nasal tip, Prominent nose, Micrognathia, Hyperte...	OMIM:617755
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Holoprosencephaly 5	Anteverted nares, Depressed nasal bridge, Syntelencephaly, Microcephaly, Hypertelorism, Alobar ho...	OMIM:609637
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Partial albinism, Camptodactyly of finger, Prominent nas...	OMIM:148820
Hall-Riggs Syndrome	Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microcephaly, Prominent nose, Hy...	OMIM:234250
Anauxetic Dysplasia 3	Sparse scalp hair, Short metacarpal, Broad eyebrow, Depressed nasal bridge, Joint hypermobility, ...	OMIM:618853
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Frontal bossing, Broad hallux, Depressed nasal bridge, Short thumb, Premat...	OMIM:165800
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Postaxial hand polyda...	ORPHA:2935
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Hypertelorism, Abnormal hand bo...	OMIM:300244
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Convex nasal ridge, Brachydactyly	ORPHA:1277
Tetrasomy X	Hypertelorism, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the ...	ORPHA:9
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Cloverleaf skull, Depressed nasal bridge,...	ORPHA:1860
20P13 Microdeletion Syndrome	Finger syndactyly, Prominent nasal bridge, Highly arched eyebrow, Microcephaly, Hypertelorism, Wi...	ORPHA:313781
Megalencephaly, Autosomal Dominant	Hydrocephalus, Macrocephaly	OMIM:155350
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Frontal bossing, Microcephaly, Osteoporosis, Joint hyperflexibility, Short distal phalanx of fing...	ORPHA:2787
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of ...	OMIM:613330
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Frontal bossing, Hypertelorism, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, ...	ORPHA:166024
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Narrow face, Synophrys, Brachycephaly, Long face, Scapular winging, Anteve...	ORPHA:1327
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger...	ORPHA:1453
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Velo-Facial-Skeletal Syndrome	Long face, Prominent fingertip pads, Narrow face, Hypertelorism, Abnormal thumb morphology, Wide ...	ORPHA:3424
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Hypoplastic thumbnail, Single transverse palmar crease, Bifid distal phalanx of th...	ORPHA:370010
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Round face, Anteverted nares, Depressed nasal bridge, Sh...	OMIM:614613
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Thick hair, Anteverted nares, Microcephaly, Promine...	ORPHA:2107
Catel-Manzke Syndrome	Camptodactyly of finger, Highly arched eyebrow, Metatarsus valgus, Micrognathia, Hypertelorism, J...	ORPHA:1388
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Hyp...	OMIM:122860
Weaver Syndrome	Deep-set nails, Finger syndactyly, Round face, Sandal gap, Camptodactyly of finger, Abnormal fing...	ORPHA:3447
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Intellectual Developmental Disorder, Autosomal Recessive 45	Round face, Coarse facial features, Anteverted nares, Highly arched eyebrow, Hypertelorism, Bulbo...	OMIM:615979
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Camptodactyly of finger, Absent fingernail, Fingernail dysplasia, Broad thu...	ORPHA:1471
Tetralogy Of Fallot	Abnormal nasal morphology, Proptosis, Dolichocephaly, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Odontochondrodysplasia 1	Narrow face, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacar...	OMIM:184260
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Brachycephaly, Coxa vara, Hypoplastic inferior il...	ORPHA:1452
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Abnormality of the ...	ORPHA:3152
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Brachycephaly, De...	ORPHA:950
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Turricephaly, Prominent nose, Carious teeth, F...	OMIM:203550
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Feingold Syndrome Type 2	Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Abnormal facial shape,...	ORPHA:391646
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Hypertelorism, Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, ...	ORPHA:166277
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Hypertelorism, Osteolysis involving bones of the upper limbs, Flexion contr...	ORPHA:88630
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe, Abnormal facial shape	OMIM:614341
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Round face, Anteverted nares, Joint stiffness, Bul...	ORPHA:969
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Hydroce...	ORPHA:93262
Gómez-López-Hernández Syndrome	Turricephaly, Anteverted nares, Hypertelorism, Hydrocephalus, Brachycephaly, Alopecia of scalp, T...	ORPHA:1532
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Acrocephalopolydactyly	Hypertelorism, Oxycephaly, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose, ...	ORPHA:221054
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Dolichocephaly, Metaphyseal widening, Broad isc...	OMIM:609052
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Proptosis, A...	ORPHA:2370
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Macrocephaly, Abnormal facial shape, Ventriculomegaly	OMIM:618709
Albers-Schönberg Osteopetrosis	Frontal bossing, Osteomyelitis, Recurrent fractures, Carious teeth, Mandibular osteomyelitis, Hyd...	ORPHA:53
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Narrow face, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:1529
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Brushfield spots, Long fingers,...	ORPHA:1895
Frontonasal Dysplasia 1	Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand polydactyly, Widow's ...	OMIM:136760
Wahab Syndrome	Short palm, Syndactyly, Short metacarpal, Ankylosis, Short thumb, Short foot, Camptodactyly, Clin...	OMIM:615170
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail bandin...	OMIM:619692
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Hyperte...	ORPHA:1825
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Hypertelorism, Melan...	ORPHA:261120
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal ...	ORPHA:2655
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Coarse facial features, Craniosynostosis, Highly arched eyebrow, Broad ...	OMIM:619451
Nicolaides-Baraitser Syndrome	Short palm, Narrow nasal bridge, Alopecia, Sandal gap, Anteverted nares, Highly arched eyebrow, M...	ORPHA:3051
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Microcephaly, Frontotemporal hypertrichosis, Wide anterior fontanel,...	OMIM:263210
Rubinstein-Taybi Syndrome 2	Syndactyly, Thick eyebrow, Broad hallux, Highly arched eyebrow, Prominent nose, Micrognathia, Car...	OMIM:613684
Chromosome 2Q35 Duplication Syndrome	Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista...	OMIM:185900
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Microcephaly, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovaru...	OMIM:612626
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epip...	OMIM:250460
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Joint stiffness, Joint hyperfl...	ORPHA:40
Emery-Nelson Syndrome	Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb...	ORPHA:1927
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Small nail, Distal foot sympha...	OMIM:185700
Larsen-Like Syndrome	Joint laxity, Frontal bossing, Hypertelorism, Wide anterior fontanel, Dental malocclusion, Brachy...	OMIM:608545
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Hypopigmentation of the skin, Natal tooth, Single transverse palmar crease...	OMIM:601957
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Hypertelorism, Bulbous nose, Limitation of joint mobi...	ORPHA:3080
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Long face, Frontal bossing, Anteverted nares, Single transverse palmar crease, Micrognathia, Hype...	OMIM:613604
Adams-Oliver Syndrome 2	Alopecia, Depressed nasal bridge, Single transverse palmar crease, Microcephaly, Micrognathia, Hy...	OMIM:614219
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Single transverse palmar crease, Microcephaly, Adducted thumb, Notched primary...	OMIM:620062
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Craniosynostosis, Micrognathia, Hypertelorism, Micromelia, Split...	ORPHA:2145
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Osteopenia, Prominent nose, Short metatarsal, Deeply set eye, Sparse hair,...	OMIM:614813
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Limitation of joint mobility, Macrocephaly	ORPHA:99966
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Abnormal dental en...	ORPHA:1798
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte...	OMIM:605282
Intellectual Developmental Disorder, Autosomal Recessive 41	Mandibular prognathia, Frontal bossing, Broad nasal tip, Hypertelorism, Scaphocephaly, Macrocepha...	OMIM:615637
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Decreased calva...	OMIM:614592
Robinow Syndrome, Autosomal Recessive 2	Relative macrocephaly, Frontal bossing, Midface retrusion, Broad hallux, Sandal gap, Anteverted n...	OMIM:618529
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Turricephaly, Anteverted nares, Craniosynostosis, Micro...	ORPHA:171839
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Round face, Micromelia, Micrognathia, ...	OMIM:224400
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Hypertelorism, Metaphyseal widening, Cranial hyperostosis, Flared metaphys...	OMIM:123000
Acrofrontofacionasal Dysostosis 2	Syndactyly, Wide nose, Broad hallux, Hypertelorism, Wide anterior fontanel, Widow's peak, Brachyc...	OMIM:239710
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Hydrocephal...	ORPHA:93274
Tonne-Kalscheuer Syndrome	Narrow face, Prominent nasal bridge, Convex nasal ridge, Concave nail, Microcephaly, Micrognathia...	OMIM:300978
Anauxetic Dysplasia 2	Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Cubitus...	OMIM:617396
Dandy-Walker Malformation With Postaxial Polydactyly	Microretrognathia, Frontal bossing, Dilated fourth ventricle, Depressed nasal bridge, Dolichoceph...	OMIM:220220
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Relative macrocephaly, Sparse scalp hair, Depressed nasal bridge, Sagittal craniosynostosis, Micr...	ORPHA:459061
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Pentasomy X	Camptodactyly of finger, Microcephaly, Micrognathia, Hypertelorism, Small hand, Wide nasal bridge...	ORPHA:11
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Microretrognathia, Joint...	OMIM:618870
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Coxa valga, Hypoplasia of the maxilla, Hypertelorism, Hydrocephalus, Hip dislocation, Brachycepha...	OMIM:109120
Crouzon Syndrome With Acanthosis Nigricans	Choanal atresia, Craniosynostosis, Hypertelorism, Hydrocephalus, Brachycephaly, Melanocytic nevus...	OMIM:612247
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wid...	OMIM:207410
Bardet-Biedl Syndrome 7	Depressed nasal bridge, Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye,...	OMIM:615984
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Frontal bossing, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphys...	OMIM:118650
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f...	ORPHA:93406
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Overlapping toe, Single transverse palmar crease, Prominent nose, Micrognathia, W...	OMIM:201170
Gorlin Syndrome	Mandibular prognathia, Frontal bossing, Vertebral fusion, Arachnodactyly, Hypertelorism, Carious ...	ORPHA:377
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Turricephaly, Facial asymmetry, Hypertel...	ORPHA:710
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Large face, Rhizomelia, Depres...	ORPHA:2831
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Split foot, Malar flattening	OMIM:183700
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Single transverse palmar crease, Underdeveloped na...	OMIM:601224
Imagawa-Matsumoto Syndrome	Mandibular prognathia, Round face, Wide nasal ridge, Hypertelorism, Melanocytic nevus, Large hand...	OMIM:618786
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Brachydactyly Type E	Frontal bossing, Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short ...	ORPHA:93387
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Relative macrocephaly, Mandibular prognathia, Joint laxity, Rhizomelia, Metaphyseal widening, Irr...	OMIM:612813
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Underdeveloped nasal alae, Avascular necrosis of the capital femora...	OMIM:190351
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Depressed nasal bridge, Sandal gap, Pro...	ORPHA:90650
Kleeblattschaedel	Cloverleaf skull, Craniosynostosis, Hydrocephalus, Proptosis, Elbow ankylosis	OMIM:148800
Cole-Carpenter Syndrome 2	Microretrognathia, Frontal bossing, Turricephaly, Triangular face, Osteopenia, Recurrent fracture...	OMIM:616294
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Hyperconvex fingernails, Vertebral fusion, Pseudoe...	OMIM:194190
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Hypertelorism, Abnormal nasal morphology, Postaxial hand polydactyly, Hyd...	ORPHA:83473
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Down-sloping shoulders, Abnormality of the nose, Carious tee...	ORPHA:1390
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Flat occiput, Micrognathia, Hypertelorism, Synophrys, Abnormal...	ORPHA:357175
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Turricephaly, Alopecia, Abnormal dental enamel morphology, Microcephaly, Promi...	ORPHA:1005
Filippi Syndrome	Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe syndactyly, Low hanging colum...	OMIM:272440
Keipert Syndrome	Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop...	ORPHA:2662
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Deepl...	OMIM:300882
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Anteverted nares, Round face, Depressed ...	ORPHA:1355
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Coarse facial feat...	OMIM:218400
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Abnormal epiphysis morphology, Enamel hypoplasia, Ventriculomegaly, Brachydactyly	ORPHA:2643
Hogue-Janssen Syndrome 2	Broad hallux, Anteverted nares, Postaxial polydactyly, Microcephaly, Hypertelorism, Abnormal hair...	OMIM:616362
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal fingernail morphology, Anteverted nares, Hypertelorism, Hypoplastic t...	ORPHA:2701
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario...	OMIM:617102
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Depressed ...	OMIM:300863
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Frontal bossing, Arachnodactyly, Camptodactyly of finger, H...	ORPHA:2994
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Highly arched eyebrow, Aplasia/Hypoplasia of the distal phalanges of the t...	ORPHA:94066
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow...	OMIM:225280
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Mandibular prognathia, Anteverted nares, Tapered finger, Hypertelorism, Depressed nasal ridge, Sm...	OMIM:618672
Tetrasomy 5P	Coarse facial features, Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Hypertelor...	ORPHA:3309
Prieto Syndrome	Coxa valga, Prominent nose, Hypertelorism, Osteoporosis, Talipes equinovarus, Radial deviation of...	OMIM:309610
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Frontal bossing, Wide nose, Anteverted nares, Hypertelorism, Hypoplasia of the zygomatic bone, Cl...	ORPHA:3074
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Microcephaly, Abnormal nasal morphology, Split hand, Flexion contrac...	ORPHA:2850
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Sandal gap,...	OMIM:614607
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of th...	ORPHA:3268
Coccidioidomycosis	Osteomyelitis, Broad skull, Hydrocephalus, CSF pleocytosis, Osteolysis, CSF lymphocytic pleiocyto...	ORPHA:228123
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Depigmentation/hyperpigmentation of skin,...	ORPHA:1724
Masa Syndrome	Microcephaly, Hydrocephalus, Talipes equinovarus, Macrocephaly, Ventriculomegaly, Adducted thumb	OMIM:303350
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Single transverse palmar crease, Synophrys, Brachycephaly, Coxa vara, Hypotelorism, Clinodactyly ...	OMIM:614701
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Frontal bossing, Sparse scalp hair, Anteverted nares, Depressed na...	OMIM:615789
Al-Raqad Syndrome	Joint laxity, Sandal gap, Microcephaly, Deeply set eye, Short nose, Hypopigmentation of the skin,...	OMIM:616459
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly	OMIM:263450
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Abnormal fingernail morphology, Sh...	ORPHA:93384
Crouzon Syndrome	Frontal bossing, Turricephaly, Choanal atresia, Convex nasal ridge, Hypertelorism, Hypoplasia of ...	ORPHA:207
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Prominent nose, Coxa valga, Hypertelorism, Osteoporosis, Finger clinodactyly, Bilateral talipes e...	ORPHA:2958
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Whistling Face Syndrome, Recessive Form	Prominent nasal bridge, Shoulder flexion contracture, Underdeveloped nasal alae, Micrognathia, Tr...	OMIM:277720
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Highly arched eyebrow, Micro...	ORPHA:2083
Intellectual Developmental Disorder, Autosomal Recessive 68	Microcephaly, Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge, Broad eyebrow	OMIM:618302
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Coarse facial features, Depressed nasal...	OMIM:313420
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Increased bone mineral density, Depressed nasal bridge, Anteverted nares, Microg...	ORPHA:163649
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Prominent nose, Hypoplastic toenails, Brachycephaly, Symphalangism affecting the phalanges of the...	ORPHA:1292
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Depressed nasal bridge, Hypertelorism, Hydrocephalus, Progressive macro...	OMIM:602501
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, M...	OMIM:618618
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Delayed tarsal ossification, ...	OMIM:600002
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Long face, Highly arched eyebrow, Micrognathia, Microcephaly, Hypoplasia o...	OMIM:620157
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Depressed nasal bridge, Micromelia, Microcephaly, Microg...	OMIM:241800
Lujan-Fryns Syndrome	Narrow face, Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypop...	ORPHA:776
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Flat occiput, Coarse facial features, Micrognathia, Hypertelor...	OMIM:615162
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Prominent nasal bridge, Joint hypermobility, Tapered finger, Microgn...	OMIM:618659
Trichorhinophalangeal Syndrome Type 2	Sparse scalp hair, Ventriculomegaly, Bilateral single transverse palmar creases, Microcephaly, Av...	ORPHA:502
11Q22.2Q22.3 Microdeletion Syndrome	Thick eyebrow, Depressed nasal bridge, Bilateral single transverse palmar creases, Micrognathia, ...	ORPHA:444002
Eem Syndrome	Finger syndactyly, Absent eyebrow, Sparse scalp hair, Abnormality of retinal pigmentation, Cariou...	ORPHA:1897
Pelviscapular Dysplasia	Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypertelorism, Hy...	ORPHA:93333
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Relative macrocephaly, Mandibular prognathia, Joint laxity, Rhizomelia, Broad thumb, Absent nasal...	ORPHA:171866
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Joint stiffness, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Hyperpigmentation of the skin, Camptodactyly of finger, Short thumb,...	ORPHA:2251
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Hypertelorism, Joint stiffness, Synophrys, Anosmia, Hypopigmented skin patches, Ge...	ORPHA:1295
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Coarse facial features, Depressed nasal bridge,...	ORPHA:137834
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Frontal Encephalocele	Encephalocele, Spina bifida, Hypertelorism, Hydrocephalus, Macrocephaly, Dolichocephaly, Calvaria...	ORPHA:1931
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Mit...	OMIM:609638
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Abnorma...	ORPHA:1908
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Single transverse palmar crease, Postaxial polydactyly, Microgna...	OMIM:617866
2q37 monosomy	Deeply set eye, Round face, Brachydactyly	DECIPHER:44
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Trisomy 9P	Hypoplastic fingernail, Bilateral single transverse palmar creases, Microcephaly, Hypoplastic toe...	ORPHA:236
Spinocerebellar Ataxia, Autosomal Recessive 20	Relative macrocephaly, Delayed eruption of teeth, Brachydactyly, Coarse facial features, Antevert...	OMIM:616354
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Microcephaly, ...	ORPHA:1865
Osteoglophonic Dysplasia	Mandibular prognathia, Osteopenia, Hypoplastic toenails, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Roifman Syndrome	Narrow nasal bridge, Hip contracture, Epiphyseal dysplasia, Bilateral single transverse palmar cr...	ORPHA:353298
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, Broad hallux, Depressed nasal bridge, Clinodactyly of the 2nd toe, Coxa valg...	OMIM:620073
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Anteverted nares, Highly arched eyebrow, Micrognat...	OMIM:619135
Acrocallosal Syndrome	Hypertelorism, Wide anterior fontanel, Postaxial hand polydactyly, Prominent occiput, Triphalange...	ORPHA:36
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Poliosis, Dental malocclusion, Deeply set eye, Patchy alopecia, Hemifa...	OMIM:141300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Frontal bossing, Toe syndactyly, Depressed nasal bridge, Hypermelanotic macule...	ORPHA:60040
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Joint hyperflexibility, Finger syndactyly	ORPHA:238446
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact...	OMIM:210720
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Diastrophic Dysplasia	Bowing of the long bones, Increased bone mineral density, Depressed nasal bridge, Camptodactyly o...	ORPHA:628
Temple Syndrome	Relative macrocephaly, Frontal bossing, Wide nose, Anteverted nares, Depressed nasal bridge, Micr...	OMIM:616222
Opsismodysplasia	Frontal bossing, Abnormally ossified vertebrae, Flat occiput, Depressed nasal bridge, Tapered fin...	ORPHA:2746
Temple-Baraitser Syndrome	Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb, Low anterior hairline, Thic...	ORPHA:420561
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Single transverse palmar crease, Micrognathia, Synophrys, Low anterior hairline, Clinodactyly of ...	OMIM:617061
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Hypertelorism, Myelomeningocele, Hydro...	ORPHA:1914
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Coarse facial features, Ventriculomegaly, Depressed nasal bridge, ...	OMIM:619833
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the hallux, Single transverse palmar creas...	OMIM:609432
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Antegonial notching of mandible, Short...	OMIM:170390
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypert...	OMIM:617822
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Midface retrusion, Malar flattening, Micromelia, Depressed nasal ridge, Epiphyseal stippling, Sho...	OMIM:118651
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone m...	ORPHA:1427
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg...	ORPHA:440354
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Underdeveloped nasal alae, Hypertelorism, Syno...	ORPHA:2025
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S...	ORPHA:2872
Summitt Syndrome	Syndactyly, Oxycephaly, Craniosynostosis	OMIM:272350
Moebius Syndrome	Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Micrognathia,...	OMIM:157900
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Hypertelorism, Metaphyseal widening, Squ...	OMIM:618961
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:611808
Periventricular Nodular Heterotopia 7	Microretrognathia, Round face, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:617201
Osteoglosphonic Dysplasia	Anteverted nares, Choanal atresia, Craniosynostosis, Micrognathia, Hypertelorism, Rhizomelia, Mul...	ORPHA:2645
2Q37 Microdeletion Syndrome	Deeply set eye, Short palm, Clinodactyly of the 5th finger, Broad columella, Bilateral single tra...	ORPHA:1001
Trisomy 5P	Frontal bossing, Round face, Dolichocephaly, Hypertelorism, Macrocephaly, Abnormal metacarpal mor...	ORPHA:1742
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Hydrocephalus, Melanocytic nevus, Sparse body hai...	ORPHA:1008
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Hypertelorism, Widow's peak, Small hand, Wide nasal bridge, Abnormal facial shape, Broad finger, ...	OMIM:614684
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Brachydactyly, Ventriculomegaly, Thick hair, Micrognathia, Synophrys, Deeply set eye, Hip dysplas...	OMIM:618381
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Hypertelorism, Sp...	ORPHA:263463
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Microcephaly, Prominent nose, Wide anterior fontanel, Hydrocephalus...	OMIM:614886
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Genu v...	OMIM:271510
Robinow Syndrome, Autosomal Dominant 2	Frontal bossing, Brachydactyly, Midface retrusion, Anteverted nares, Depressed nasal bridge, Micr...	OMIM:616331
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pugilistic facies, Hypoplasia of the ul...	OMIM:271700
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar...	OMIM:259600
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphyseal cupping ...	OMIM:300232
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Aplasia/Hypop...	ORPHA:2256
Orofaciodigital Syndrome Xviii	Square face, Sandal gap, Prominent nasal bridge, Postaxial polydactyly, Single transverse palmar ...	OMIM:617927
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Arachnodactyly, Micrognathia, Long nose, Malar...	ORPHA:2824
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Low anterior hairline, Deeply set eye, Hypoplastic ili...	OMIM:260660
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Craniosynostosis, Coxa valga, Microcephaly, Facial asymmetry...	ORPHA:2163
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypertelorism, Hypoplasia of the ...	OMIM:212780
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Wide nasa...	ORPHA:261295
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Coarse facial features, Abnormally ossified vertebrae, Restricted large joint movement, Micrognat...	ORPHA:93346
Fibrochondrogenesis	Hypoplastic fingernail, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depresse...	ORPHA:2021
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Convex nas...	ORPHA:783
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Temtamy Syndrome	Long face, Frontal bossing, Highly arched eyebrow, Micrognathia, Hypertelorism, Hip dislocation, ...	OMIM:218340
Inverted Duplicated Chromosome 15 Syndrome	Frontal bossing, Microcephaly, Broad nasal tip, Synophrys, Brachycephaly, 2-3 toe syndactyly, Dee...	ORPHA:3306
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Hypertelorism, Carious teeth, Distichiasis	ORPHA:1997
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield spots, Hypertelorism, Brachyceph...	ORPHA:1784
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Facial asymmetry, Joint stiffness, Micrognathia, Low ...	ORPHA:1323
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Sparse eyelashes, Craniosynostosis, Mic...	OMIM:250410
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Microcephaly, Hydrocephalus, Deeply set eye, Prominent ...	OMIM:300558
Congenital Hydrocephalus	Frontal bossing, Bulbous nose, Hydrocephalus, Colpocephaly, Macrocephaly, Ventriculomegaly, Facia...	ORPHA:2185
15Q24 Microdeletion Syndrome	Long face, Joint laxity, Depressed nasal bridge, Prominent nasal bridge, Proximal placement of th...	ORPHA:94065
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Plagiocephaly, Slender long bone, Decreased calvarial ossificatio...	OMIM:618265
Craniosynostosis 2	Frontal bossing, Bicoronal synostosis, Turricephaly, Craniosynostosis, Supernumerary tooth, Brach...	OMIM:604757
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypertelorism, Hypoplasia of the maxilla, Abnormal hair whorl, Short nose, Extra-axial...	OMIM:614261
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Large face, Frontal bossing, Depressed nasal bridge, Sclerotic...	OMIM:269500
2Q31.1 Microdeletion Syndrome	Narrow face, Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anteri...	ORPHA:251014
Fibular Aplasia-Complex Brachydactyly Syndrome	Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers...	ORPHA:2639
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Slow-growing ha...	ORPHA:3082
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb shortening, Hypop...	OMIM:611717
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Relative macrocephaly, Mandibular prognathia, Coarse facial features, Joint laxity, Sandal gap, D...	OMIM:300354
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Anteverted nares, Microcephaly, Hypertelorism, Depressed nasal ridge, Pa...	ORPHA:464288
Smith-Magenis Syndrome	Mandibular prognathia, Micrognathia, Synophrys, Brachycephaly, Deeply set eye, Clinodactyly of th...	ORPHA:819
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal...	OMIM:101800
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno...	ORPHA:2378
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Broad hallux, Depressed nasal bridge, Highly arched eyebrow, Microcephaly, Micro...	OMIM:614541
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Hypertelorism, Shor...	ORPHA:401935
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ...	OMIM:252100
Acromicric Dysplasia	Short metacarpal, Round face, Anteverted nares, Bulbous nose, Cone-shaped epiphysis, Short foot, ...	OMIM:102370
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Dental malocclusion, Hip dysplasia, Hypoplastic iliac wing,...	ORPHA:1858
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Hypotelorism, Postaxial foot polydactyly, Small nail, Short palm, Cli...	OMIM:193530
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Robinow-Sorauf Syndrome	Hallux valgus, Broad hallux, Craniosynostosis, Hypertelorism, Long nose, Plagiocephaly, Flat face...	OMIM:180750
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Highly arche...	OMIM:600430
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Round face, Depressed nasal bridge, Short metatarsal...	OMIM:612463
Radio-Tartaglia Syndrome	Micrognathia, Synophrys, Low anterior hairline, Deeply set eye, Long face, Anteverted nares, Depr...	OMIM:619312
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Ventriculomegaly, Sandal gap, Depressed nasal bridge, Supernumerary nipple, Abno...	ORPHA:1812
Cranioectodermal Dysplasia 3	Joint laxity, Frontal bossing, Sandal gap, Short nail, Postaxial polydactyly, Sagittal craniosyno...	OMIM:614099
Smith-Kingsmore Syndrome	Frontal bossing, Curly hair, Depressed nasal bridge, Rhizomelia, Hypertelorism, Short proximal ph...	OMIM:616638
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Hypotelorism, Deeply set eye, Sparse hair, Cli...	ORPHA:2710
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Intellectual Developmental Disorder, Autosomal Dominant 59	Short palm, Highly arched eyebrow, Short foot, Macrocephaly, Flat face, Fragile nails, Brachydactyly	OMIM:618522
Cenani-Lenz Syndrome	Micromelia, Foot oligodactyly, Absent fingernail, Synostosis of carpal bones, Hypoplasia of the u...	ORPHA:3258
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Cloverleaf skull, Depressed nasal bridge...	ORPHA:93259
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Syndactyly, Enamel hypoplasia, Palmoplantar keratoderma	OMIM:613576
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Limitation of joint mobility, Clinodactyly of the 5th...	ORPHA:376
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Prominent nose, G...	ORPHA:763
Smith-Magenis Syndrome	Mandibular prognathia, Synophrys, Brachycephaly, Wide nasal bridge, Broad palm, Deeply set eye, B...	OMIM:182290
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Absent fifth fingernail, Toe syndactyly, Absent middle phalanx of 5th finger, Absent thumbnail, A...	OMIM:124480
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Recurrent fracture...	ORPHA:3409
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Depressed nasal bridge, A...	ORPHA:1512
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Frontal bossing, Anteverted nares, Depressed nasal bridge, Micrognathia, Hypertelorism, Wide ante...	OMIM:618272
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa va...	OMIM:608940
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Nail dystrophy, Nail dysplasia, Enamel hypoplasia	OMIM:226700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Proximal placement of th...	ORPHA:93267
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Temple-Baraitser Syndrome	Wide nose, Depressed nasal bridge, Broad hallux, Proximal placement of thumb, Hypertelorism, Hypo...	OMIM:611816
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Midface retrusion, Round face, Depressed nasal bridge, Abnorma...	ORPHA:369891
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Arthrochalasia Ehlers-Danlos Syndrome	Depressed nasal bridge, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the capi...	ORPHA:1899
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Rocker bottom foot, Microcephaly, Micrognathia, Hypertelorism, Wide nasa...	ORPHA:251056
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the hand, Supernumerary tooth, Sparse hair, U...	ORPHA:1264
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Shallow orbits, Disloc...	OMIM:182212
Pycnodysostosis	Ridged nail, Frontal bossing, Increased bone mineral density, Aplastic clavicle, Prominent nose, ...	OMIM:265800
Fountain Syndrome	Long face, Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Midface retrusion, Cranio...	ORPHA:3219
Blepharocheilodontic Syndrome 1	Choanal atresia, Hypertelorism, High anterior hairline, Cutaneous syndactyly, Small nail, Nail dy...	OMIM:119580
Char Syndrome	Mesoaxial foot polydactyly, Depressed nasal bridge, Toe syndactyly, Mesoaxial hand polydactyly, P...	ORPHA:46627
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, Hypoplastic toenails, Prominent nose, 2-3 toe cuta...	ORPHA:96148
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long face, Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyp...	OMIM:614800
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Abnormality of the nose, Short thumb, Craniofacial a...	ORPHA:1708
Acrocraniofacial Dysostosis	Micrognathia, Triphalangeal thumb, Advanced eruption of teeth, Abnormal toenail morphology, Spina...	ORPHA:949
Williams-Beuren Region Duplication Syndrome	Micrognathia, Broad nasal tip, Hydrocephalus, Brachycephaly, Deeply set eye, Long eyelashes, Hori...	OMIM:609757
Schaaf-Yang Syndrome	Mandibular prognathia, Frontal bossing, Coarse facial features, Rocker bottom foot, Tapered finge...	OMIM:615547
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Cloverleaf skull, Turricephaly, Craniosynostosis, ...	ORPHA:65759
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Brachycephaly, Choanal stenosis, Long hallux, In...	OMIM:259775
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Triangular fac...	OMIM:612940
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Coarse facial features, Anteverted nares, Single transverse p...	OMIM:610253
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hypertelorism, Hir...	ORPHA:313855
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Round face, Depressed nasal bridge, Short toe, Choro...	OMIM:103580
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Coarse facial features, Radial bowing, Depressed nasal bridge, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Depressed nasal bridge, Hypertelorism, Osteoporosis, Camptodactyly, Abnormal facial s...	OMIM:616006
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Frontal bossing, Osteopenia, Recurrent fractures, Micrognathia, Hydr...	OMIM:112240
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Anteverted nares, Prominent nasal bridge, Highly arch...	OMIM:618825
Hypomelanosis Of Ito	Syndactyly, Alopecia, Coarse facial features, Hypertelorism, Macular hypopigmented whorls, streak...	OMIM:300337
Congenital Disorder Of Glycosylation, Type Iic	Coarse facial features, Microcephaly, Bulbous nose, Widow's peak, Short foot, Brachydactyly	OMIM:266265
Mesomelic Dysplasia, Nievergelt Type	Large face, Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnormal m...	ORPHA:2633
Cooks Syndrome	Split hand, Aplastic/hypoplastic toenail, Triphalangeal thumb, Abnormal toenail morphology, Dystr...	ORPHA:1487
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Hypertelorism, Clinodactyly, Deeply set eye, Sparse hair, Shor...	OMIM:618087
Intellectual Developmental Disorder, Autosomal Dominant 65	Turricephaly, Round face, Anteverted nares, Single transverse palmar crease, Micrognathia, Synoph...	OMIM:619320
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Broad long bones, Anteverted nares, Depressed nasal bridge, Abnormal metatarsal morph...	ORPHA:163654
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Hyperconvex fingernails, Advanced eruption of teeth, Thick nasal alae,...	ORPHA:192
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Abnormal facial shape, Short phalanx of finger, ...	ORPHA:56304
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Relative macrocephaly, Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hyp...	OMIM:617895
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Brach...	OMIM:201000
Laron Syndrome	Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro...	ORPHA:633
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Limited elbow movemen...	OMIM:610759
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Autosomal Dominant Omodysplasia	Short humerus, Frontal bossing, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocati...	ORPHA:93328
Erythrokeratodermia Variabilis	Alopecia, Hypermelanotic macule, Microcephaly, Tapered finger, Abnormal hair morphology, Patchy p...	ORPHA:317
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Fi...	ORPHA:87
Opitz-Kaveggia Syndrome	Multiple joint contractures, Single transverse palmar crease, Micrognathia, Prominent nose, Spars...	OMIM:305450
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Large tarsal bones, Micrognathia,...	OMIM:215150
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Short no...	OMIM:614524
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Suleiman-El-Hattab Syndrome	Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Microce...	OMIM:618950
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric...	ORPHA:2050
Roifman Syndrome	Hip contracture, Short metacarpal, Anteverted nares, Single transverse palmar crease, Microcephal...	OMIM:616651
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Myopathy, Centronuclear, X-Linked	Narrow face, Arachnodactyly, Dolichocephaly, Hydrocephalus, Flexion contracture, Dental malocclus...	OMIM:310400
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Short Syndrome	Alopecia, Triangular face, Abnormal dental enamel morphology, Hypertelorism, Abnormal zygomatic b...	ORPHA:3163
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Convex nasal ridge, Proximal placement of thumb, Microcephaly, M...	ORPHA:3121
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m...	ORPHA:221120
Steel Syndrome	Anteverted nares, Hypertelorism, Hip dislocation, Wide nasal bridge, Coxa vara, Clinodactyly of t...	OMIM:615155
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Hypertelorism, Hydrocephalus, Polydactyly...	ORPHA:59315
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Frontal bossing, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality ...	ORPHA:163966
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Osteopenia, Joint laxity, Short metacarpal, Depressed nasal bridge, Ca...	OMIM:612350
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Microcephaly, Preaxial hand polydactyly, Short toe, Sy...	OMIM:620072
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Depressed na...	ORPHA:2863
Osteopetrosis, Autosomal Recessive 1	Frontal bossing, Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis,...	OMIM:259700
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Trisomy 1Q	Microretrognathia, Frontal bossing, Wide nose, Toe syndactyly, Arachnodactyly, Camptodactyly of f...	ORPHA:261344
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Acalvaria	Spina bifida, Hypertelorism, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Calvar...	ORPHA:945
Pseudoachondroplasia	Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra...	OMIM:177170
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Choanal atresia, Craniosynostosis, Micrognathia, Microcephaly, Hy...	ORPHA:2409
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Ventriculomegaly, Micrognathia, Hypertelorism, Hydrocephalus, Retrognathia, Shor...	ORPHA:163961
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Microcephaly, ...	OMIM:217980
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Hypotelorism, Triphalangeal thum...	ORPHA:794
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Jo...	ORPHA:2635
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Round face, Anteverted nares, Camptodactyly of fing...	ORPHA:915
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hair p...	ORPHA:1786
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Craniosynostosis, Abnormality of thumb phalanx, Hypertelorism,...	ORPHA:1553
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Coffin-Siris Syndrome 6	Frontal bossing, Coarse facial features, Depressed nasal bridge, Micrognathia, Broad nasal tip, P...	OMIM:617808
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm...	ORPHA:1458
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Lateral ventricular asymmetry, Scapular winging, Arachno...	OMIM:616914
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Brachycephaly, Knee f...	ORPHA:3103
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality of the hand, Underdevelop...	ORPHA:521308
Non-Distal Deletion 10Q	Bilateral single transverse palmar creases, Synophrys, Wide nasal bridge, Biparietal narrowing, C...	ORPHA:1581
Trisomy 17P	Wide nose, Coarse facial features, Microcephaly, Tapered finger, Micrognathia, Prominent nose, Hy...	ORPHA:261290
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture, Small nail, Microcephaly	OMIM:619470
Autosomal Recessive Faciodigitogenital Syndrome	Long face, Finger syndactyly, Frontal bossing, Dry hair, Hypopigmentation of hair, Down-sloping s...	ORPHA:1974
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Anteverted nares, Single transverse palmar crease, Narrow nas...	OMIM:236500
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Deeply set eye, Blo...	OMIM:601559
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Encephalocele, Short metacarpal, Radial bowing, Cl...	OMIM:108720
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ...	OMIM:259710
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Larsen Syndrome	Finger syndactyly, Depressed nasal bridge, Short nail, Craniosynostosis, Hypertelorism, Accessory...	ORPHA:503
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormal eyelas...	ORPHA:1794
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Turricephaly, Coarse facial features, Large carpal bon...	ORPHA:99330
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Tapered finger, Hypertelorism, Wid...	OMIM:607131
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Coarse facial features, Anteverted nares, Hypoplastic toenails, Hydrocephalus, Drumstick terminal...	OMIM:612938
Monosomy 18P	Alopecia, Microcephaly, Micrognathia, Carious teeth, Brachycephaly, Wide nasal bridge, Low poster...	ORPHA:1598
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depressed nasal ridge, Pat...	OMIM:114290
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Synophrys, Low anterior hairline, Brachycephaly, Knee flexion contra...	OMIM:613776
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Joint hypermobility, Sandal gap, Rocker bottom foot, Camptodactyly of finger, High...	OMIM:619951
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Congenital giant melanocytic nevus, Anteverted nares, Round face, N...	OMIM:137550
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly	ORPHA:1937
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Hip contracture, Microretrognathia, Round face, Coxa valga, Micrognathia, ...	OMIM:618363
Sweeney-Cox Syndrome	Flat occiput, Micrognathia, Low anterior hairline, Brachycephaly, 2-5 toe syndactyly, Generalized...	OMIM:617746
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Micrognathia, Bulbous nose, Supernumerary tooth, Small hand,...	ORPHA:1787
Oculodentodigital Dysplasia, Autosomal Recessive	Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Deeply set eye, Sparse hair, H...	OMIM:257850
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Overlapping toe, Hypertelorism, Wide anterior ...	OMIM:300963
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Brachycephaly, Shoulder dislocation, Dislocated radial head, Microretro...	OMIM:245600
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of f...	OMIM:605130
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long face, Brittle hair, Prominent nasal bridge, Joint hypermobility, Microcephaly, Long nose, Jo...	OMIM:619184
Kury-Isidor Syndrome	Finger syndactyly, Frontal bossing, Alopecia, Anteverted nares, Rocker bottom foot, Proximal plac...	OMIM:619762
Multiple Synostoses Syndrome 1	Narrow face, Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, ...	OMIM:186500
Orofaciodigital Syndrome Viii	Syndactyly, Broad nasal tip, Bifid nasal tip, Hypertelorism, Polydactyly, Short tibia	OMIM:300484
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Microcephaly, Mic...	ORPHA:96097
Anauxetic Dysplasia 1	Mandibular prognathia, Hip contracture, Joint laxity, Rhizomelia, Hypertelorism, Hypoplastic ilia...	OMIM:607095
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Hypertelorism, Clinodactyly, Retrognathia	OMIM:619092
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Hypertelorism, Clinodactyly of the 5th finger, Decr...	OMIM:601163
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Congenital hip dislocation, Anteverted nares, Hypertelorism, Depres...	ORPHA:2412
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal fingernail morphology, Microcephaly, Hypertelorism, Hyperconvex t...	ORPHA:3079
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Highly arched eyebrow, ...	ORPHA:178303
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Infantile Sialic Acid Storage Disease	Osteopenia, Coarse facial features, Anteverted nares, Hydrocephalus, Fair hair, Hypopigmentation ...	OMIM:269920
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas...	ORPHA:1133
Prolidase Deficiency	Abnormality of retinal pigmentation, Depressed nasal bridge, Arachnodactyly, Abnormal fingernail ...	ORPHA:742
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Ventriculomegaly, Micromelia, Microcephaly, Prominent nose, Underdeveloped nasal alae, Hypopigmen...	ORPHA:2637
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Midface retrusion, Brachydactyly	ORPHA:435804
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Short long bo...	OMIM:620269
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Micrognathia, Hypertelorism, Hydrocephalus, Brachycephaly, Lo...	OMIM:220210
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Ante...	OMIM:180700
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Lowry-Wood Syndrome	Microcephaly, Prominent nose, Squared iliac bones, Hip dislocation, Limited elbow extension, Elbo...	OMIM:226960
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Recurrent fractures, Craniosyno...	ORPHA:83
Hydrolethalus Syndrome 2	Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly,...	OMIM:614120
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Coarse facial features, Depressed nasal bridge, Sing...	OMIM:617425
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involving the femoral...	ORPHA:1190
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Broad hallux, Depressed nasal bridge, Hypertelorism, Abnormal hair whorl, Synophrys, 2-3 toe synd...	OMIM:300860
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Synophrys, Short phalanx of finger, Genu v...	OMIM:615777
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Long face, Hypertelorism, Postaxial hand polydactyly, Clubbing, Genu valgu...	OMIM:619143
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Leopard Syndrome 2	Mandibular prognathia, Curly hair, Depressed nasal bridge, Hypertelorism, Multiple lentigines, Do...	OMIM:611554
Fibrochondrogenesis 1	Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, A...	OMIM:228520
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H...	OMIM:612651
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, Sparse hair, Clinodactyly of the 5th finger, Abnormal nu...	OMIM:611174
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Alopecia totalis, Underdeveloped nasal alae, Micrognathia, Apl...	ORPHA:1234
Silver-Russell Syndrome 3	Syndactyly, Frontal bossing, Elbow contracture, Small hand, Melanocytic nevus, Clinodactyly of th...	OMIM:616489
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Micrognathia, Hypoplasia of the maxi...	OMIM:300534
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Hyperconvex nail, Highly arched eyebrow, Tapered finger, Broad nasal tip, ...	OMIM:239300
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal fing...	ORPHA:2980
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Syndactyly, Tapered finger, Plagiocephaly, Clinodactyly of the 5th finger, Abnormal facial shape	OMIM:618725
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Low anterior hairline, Brachycephaly, Partial duplication o...	OMIM:101400
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Long face, High anterior hairline, Sparse lateral eyebrow, Brachydactyly	OMIM:618879
Coffin-Siris Syndrome 7	Sparse scalp hair, Wide nose, Coarse facial features, Anteverted nares, Depressed nasal bridge, T...	OMIM:618027
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Beemer Lethal Malformation Syndrome	Hydrocephalus, Wide nasal bridge	OMIM:209970
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Highly arched eyebrow, Microcephaly, Hype...	ORPHA:2319
3C Syndrome	Finger syndactyly, Frontal bossing, Hypoplastic fingernail, Depressed nasal bridge, Ventriculomeg...	ORPHA:7
Macrocephaly-Intellectual Disability-Autism Syndrome	Frontal bossing, Depressed nasal bridge, Hypertelorism, Preaxial hand polydactyly, Foot polydacty...	ORPHA:210548
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Narrow face, Abnormality of thumb phalanx, Micrognathia, Hypopla...	ORPHA:235
Campomelic Dysplasia	Micrognathia, Tibial bowing, Femoral bowing, Hypoplastic inferior ilia, Poorly ossified cervical ...	ORPHA:140
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Sagittal craniosynostosis, Hypertelorism, Hypoplasia of t...	OMIM:123500
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Synophrys, Hydrocephalus, Hypotelorism, Colpocephaly, Congenital contracture, Retro...	OMIM:620156
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h...	ORPHA:2658
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Abnor...	ORPHA:314585
Brachydactyly, Type E1	Short metacarpal, Round face, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E ...	OMIM:113300
Kbg Syndrome	Vertebral fusion, Round face, Anteverted nares, Single transverse palmar crease, Prominent nasal ...	ORPHA:2332
Spondyloepiphyseal Dysplasia Congenita	Coarse facial features, Short femur, Abnormally ossified vertebrae, Limited elbow movement, Micro...	ORPHA:94068
Band Heterotopia	Hydrocephalus, Plagiocephaly, Lateral ventricle dilatation, Macrocephaly, Ventriculomegaly	OMIM:600348
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Hypertelorism, Red...	ORPHA:561
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Frontal bossing, Depressed nasal bridge, Rocker bottom foot, Hypertelori...	OMIM:612582
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Frontal bossing, Turricephaly, Microretrognathia, Microcephaly, Tapered fi...	OMIM:613603
Blepharocheilodontic Syndrome 2	Hypertelorism, Cutaneous syndactyly, Nail dysplasia, Distichiasis, Flat face, Facial asymmetry	OMIM:617681
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck, Brachydac...	OMIM:618392
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Round face, Coxa valga, Genu valgum, Short phalanx of finger, Flat face, Br...	OMIM:132450
Trisomy 20P	Micrognathia, Low anterior hairline, Brachycephaly, Reduced bone mineral density, Coarse hair, Ab...	ORPHA:261318
Thanatophoric Dysplasia, Type I	Frontal bossing, Bowing of the long bones, Cloverleaf skull, Small abnormally formed scapulae, Hy...	OMIM:187600
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Frontal bossing, Wide nose, Coarse facial features, Recurrent fractures, Craniosynost...	OMIM:147060
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Microcephaly, Highly arched eyebr...	OMIM:618142
Pettigrew Syndrome	Mandibular prognathia, Thickened calvaria, Coarse facial features, Ventriculomegaly, Prominent no...	OMIM:304340
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Sparse eyebrow, Hypoplasia ...	ORPHA:306542
Hartsfield Syndrome	Syndactyly, Wide nose, Craniosynostosis, Microcephaly, Hypertelorism, Alobar holoprosencephaly, H...	OMIM:615465
Spondyloepimetaphyseal Dysplasia, Krakow Type	Frontal bossing, Rhizomelia, Allergic rhinitis, Elbow contracture, Hypertelorism, Ulnar deviation...	OMIM:618162
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Deeply set eye, Narrow greater sciatic notch, Ab...	ORPHA:508533
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, Synophrys, Deeply set eye, Joint contracture of the 5th finger, ...	OMIM:620098
Craniosynostosis 6	Turricephaly, Dandy-Walker malformation, Craniosynostosis, Microcephaly, Parietal foramina, Hyper...	OMIM:616602
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Temple Syndrome	Relative macrocephaly, Frontal bossing, Few cafe-au-lait spots, Hydrocephalus, Small hand, Short ...	ORPHA:254516
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Coarse hair, ...	ORPHA:955
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Ventriculomegaly, Cloverleaf skull, Small abnormally formed scapulae, Micromelia...	OMIM:187601
Orofaciodigital Syndrome Xix	Frontal bossing, Toe syndactyly, Broad hallux, Type A brachydactyly, Underdeveloped nasal alae, B...	OMIM:620107
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Multiple Sulfatase Deficiency	Broad hallux phalanx, Abnormality of retinal pigmentation, Coarse facial features, Anteverted nar...	ORPHA:585
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Sparse scalp hair, Depressed nasal bridge, Sparse eyelashes, Sagittal craniosynostos...	OMIM:616901
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Frontal bossing, Short metacarpal, Absent eyebrow, Alopecia, Craniosynostosis, Mic...	ORPHA:166035
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Anteverted nares, Broad nasal tip, Broad columella, Deeply set eye, Extra-axial cerebrospinal flu...	OMIM:617763
Rabin-Pappas Syndrome	Mandibular prognathia, Long face, Highly arched eyebrow, Micrognathia, Microcephaly, Broad nasal ...	OMIM:620155
Genitopalatocardiac Syndrome	Microcephaly, Micrognathia, Hypertelorism, Postaxial hand polydactyly, Hydrocephalus, Wide nasal ...	ORPHA:2075
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Depr...	OMIM:618019
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Osteopenia, Brittle hair, Anteverted nares, Prominent...	OMIM:607812
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Microcephaly, Tapered finger, Broad nasal tip, Hypertelorism, Recurrent up...	ORPHA:284180
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Round face, Anteverted nares, ...	OMIM:305400
Fg Syndrome Type 1	Finger syndactyly, Broad toe, Limited elbow extension and supination, Progressive flexion contrac...	ORPHA:93932
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Hypopl...	OMIM:609616
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypertelorism, Hypoplasia of t...	ORPHA:1134
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Hypertelori...	OMIM:156400
Specific Granule Deficiency 2	Osteopenia, Sandal gap, Hirsutism, Amelogenesis imperfecta, Nail dysplasia, Fragile nails, Brachy...	OMIM:617475
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choan...	ORPHA:1555
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Microcephaly, Carious teeth, Hypertelorism, S...	ORPHA:93324
Lambotte Syndrome	Hypertelorism, Microcephaly, Preaxial foot polydactyly, Retrognathia, Convex nasal ridge, Semilob...	OMIM:245552
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Triploidy	Finger syndactyly, Hypertelorism, Micrognathia, Hydrocephalus, Meningocele, Holoprosencephaly, Ma...	ORPHA:3376
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ca...	OMIM:277590
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, White eyelashes, White eyebrow, Underdeveloped n...	ORPHA:894
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Hypertelorism, Metaphyseal widening, Triangular shaped distal pha...	ORPHA:73230
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor...	ORPHA:2636
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Myelomeningocele, ...	ORPHA:2437
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormality of nail color, Abnormality of retinal pigmentation, Microcephal...	ORPHA:1824
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Underdeveloped nasal alae, Dental malocclusion, Malar flattening, Abnormal facial s...	ORPHA:436245
Prader-Willi Syndrome Due To Translocation	Flat occiput, Micrognathia, Prominent nose, Clinodactyly, Hypotelorism, Deeply set eye, Clinodact...	ORPHA:177907
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapular winging, ...	OMIM:272460
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Anteverted nares, Short nail, Hypertelorism, Cone-shaped epi...	ORPHA:420794
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Frontal bossing, ...	ORPHA:2484
Holoprosencephaly 7	Flat occiput, Alobar holoprosencephaly, Synophrys, Hypotelorism, Hypoplastic nasal septum, Holopr...	OMIM:610828
Polysyndactyly With Cardiac Malformation	Syndactyly, Anteverted nares, Hypertelorism, Preaxial hand polydactyly, Duplication of phalanx of...	OMIM:263630
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hypertelorism, Hand polydactyly, Foot polyda...	OMIM:258860
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Rudiger Syndrome	Frontal bossing, Coarse facial features, Depressed nasal bridge, Single transverse palmar crease,...	OMIM:268650
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hypotelorism, Hyperconvex fingernails, Advanced eruption of teeth, Prominence of the zygomatic bo...	ORPHA:2215
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Hypertelorism, Abnormal nasal morpholo...	ORPHA:3224
Fried Syndrome	Coarse facial features, Thickened calvaria, Hydrocephalus, Long face	ORPHA:85335
Craniofrontonasal Syndrome	Ridged nail, Brachycephaly, Clinodactyly of the 5th finger, Split nail, Joint laxity, Broad hallu...	OMIM:304110
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental enamel morphology, Highly arched eye...	ORPHA:3253
Craniotelencephalic Dysplasia	Frontal bossing, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele	ORPHA:1528
Silver-Russell Syndrome 1	Syndactyly, Frontal bossing, Micrognathia, Craniofacial disproportion, Short distal phalanx of th...	OMIM:180860
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Fanconi Anemia, Complementation Group S	Coarse facial features, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Mi...	OMIM:617883
Cardiofaciocutaneous Syndrome	Brittle hair, Biparietal narrowing, Sparse hair, Dystrophic fingernails, Long face, Anteverted na...	ORPHA:1340
Shashi-Pena Syndrome	Long face, Short metacarpal, Highly arched eyebrow, Broad nasal tip, Hypertelorism, Synophrys, Os...	OMIM:617190
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Coarse facial features, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Clinodac...	ORPHA:485405
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar...	ORPHA:93323
Basilar Impression, Primary	Platybasia, Craniofacial asymmetry, Abnormal cervical myelogram	OMIM:109500
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nasal bridg...	ORPHA:2884
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Craniosynostosis 4	Depressed nasal bridge, Sagittal craniosynostosis, Hypertelorism, Proptosis, Pansynostosis, Lambd...	OMIM:600775
Diastrophic Dysplasia	Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio...	OMIM:222600
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Frontal bossing, Micrognathia, Microcephaly, Hypertelorism, Short toe, Flexion contracture, Wide ...	ORPHA:98791
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Anteverted nares, Decreased fibular diameter, Microcep...	OMIM:616897
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Round face, Coarse facial features, Anteverted nares, M...	ORPHA:261323
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Microcephaly, Underdeveloped nasal alae, Aplasia of the distal phalanx of...	ORPHA:364577
Trisomy 12P	Turricephaly, Supernumerary nipple, Micrognathia, Hypertelorism, Wide nasal bridge, Large hands, ...	ORPHA:1699
1Q44 Microdeletion Syndrome	Frontal bossing, Micrognathia, Microcephaly, Hypertelorism, Synophrys, Hydrocephalus, Biparietal ...	ORPHA:238769
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Syndactyly, Depressed nasal...	OMIM:129400
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Low anterior hairline, Dislocated radial head, Long face, Synd...	OMIM:605039
Cardiofacioneurodevelopmental Syndrome	Microcephaly, Micrognathia, Hypertelorism, Hypotelorism, Aplasia/Hypoplasia of the nails, Camptod...	OMIM:619123
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Cloverleaf skull, Flat occiput, Overlapping toe, Craniosynostosis, Anteverted nares,...	OMIM:123790
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Round face, Coarse facial features, Depressed nasal bridge, Pr...	OMIM:618505
Jeune Syndrome	Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post...	ORPHA:474
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Frontal bossing, Coarse facial features, Vertebral fusion, Down-sloping sh...	OMIM:109400
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Prominent occi...	OMIM:619339
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Deeply set eye, Triphalange...	ORPHA:233
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Feingold Syndrome	Hallux valgus, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Microcephaly, Micrognath...	ORPHA:1305
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Coarse facial features	ORPHA:90023
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Hemifacial hypoplasia, Persistence of primary teeth, Fac...	OMIM:618727
Schizophrenia 1	Syndactyly, Frontal bossing, Flat occiput, Hypertelorism, Short proximal phalanx of the 4th toe	OMIM:181510
Filippi Syndrome	Enlarged epiphyses, Wide nose, Finger syndactyly, Frontal bossing, Prominent nasal bridge, Supern...	ORPHA:3255
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Coarse facial features, Arachnodactyly, Elbow contract...	OMIM:615656
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
15q26 overgrowth syndrome	Long toe, Mandibular prognathia, Long face, Arachnodactyly, Camptodactyly of finger, Craniosynost...	DECIPHER:81
White Forelock With Malformations	Finger syndactyly, Hypertelorism, Joint hyperflexibility, White forelock, Dolichocephaly, Clinoda...	ORPHA:2475
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Abnormal fingernail morphology, Craniosynostosis, Broad nasal tip, Hyperte...	ORPHA:1521
Xylt1-Cdg	Relative macrocephaly, Joint laxity, Coxa valga, Microcephaly, Synophrys, Flared metaphysis, Shor...	ORPHA:370930
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patellar aplasia, Patell...	OMIM:617604
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Frontal bossing, Short metacarpal, Short fourth metatarsal, Overlapping toe, Depresse...	OMIM:616723
Gorlin-Chaudhry-Moss Syndrome	Hypertelorism, Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Coronal craniosyn...	ORPHA:2095
Mend Syndrome	Overlapping toe, Broad hallux, Prominent nasal bridge, Micrognathia, Hypertelorism, Long fingers,...	ORPHA:401973
Chitayat Syndrome	Hallux valgus, Depressed nasal bridge, Anteverted nares, Hypertelorism, Short columella, Proptosi...	OMIM:617180
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Ventriculomegaly, Sparse eyelashes, Anteverted nares, Proboscis, ...	OMIM:605627
Aplasia Cutis Congenita	Finger syndactyly, Calvarial skull defect, Toe syndactyly, Abnormality of bone mineral density	ORPHA:1114
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, H...	OMIM:227330
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Bilateral ...	ORPHA:488642
Orofaciodigital Syndrome Type 6	Long face, Syndactyly, Mesoaxial polydactyly, Frontal bossing, Prominent nasal bridge, Highly arc...	ORPHA:2754
Hurler Syndrome	Frontal bossing, Coarse facial features, Hypoplasia of the femoral head, Anteverted nares, Depres...	OMIM:607014
Tenorio Syndrome	Mandibular prognathia, Osteopenia, Wide nose, Ventriculomegaly, Anteverted nares, Joint laxity, H...	OMIM:616260
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbow dislocation...	ORPHA:2804
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye, Hypoplastic iliac wing, Sparse ...	OMIM:139210
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Midface retrusion, Frontal bossing, Anteverted nares, Depressed nasal bridge, Microgn...	OMIM:616894
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Synophrys, ...	OMIM:619512
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Micrognathia, Hypertelorism, Limitation of joint mobility, Abnormality of th...	ORPHA:1486
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, Arachnodactyly,...	ORPHA:2462
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Na...	OMIM:122880
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Hydrocephalus, Flexion contracture, Brachycephaly, Plagiocephaly, Dolich...	ORPHA:272
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absen...	OMIM:154400
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Aplasia/Hypoplasia...	ORPHA:2839
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas...	ORPHA:1788
19Q13.11 Microdeletion Syndrome	Long face, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, U...	ORPHA:217346
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Microcephaly	ORPHA:26
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Hydrocephalus, Secondary microcephaly, Macrocephaly	OMIM:618174
6P22 Microdeletion Syndrome	Finger syndactyly, Hydrocephalus, Hypotelorism, Deeply set eye, Clinodactyly	ORPHA:251046
Progressive Osseous Heteroplasia	Hypermelanotic macule, Osteoarthritis, Limitation of joint mobility, Ectopic ossification in musc...	ORPHA:2762
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Brachycephaly, Hypotelorism, Deeply set eye, Long face, Depres...	OMIM:309590
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Mandibular prognathia, Highly arched eyebrow, Hypertelorism, Synophrys, Anosmia, Thick eyebrow	ORPHA:2057
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Abnormal facial shape,...	ORPHA:411515
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Brachycephaly, ...	OMIM:619995
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Brachycephaly, Femoral bowing, Choanal stenosis, Abnormal facial shape, Abno...	ORPHA:95699
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Micrognathia, Brachycephaly, Short palm, Short phalanx of finger, Corti...	OMIM:249420
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Frontal bossing, Sandal gap, Depressed nasal bridge, Highly arched eyebrow, Microcephal...	ORPHA:261279
Desmosterolosis	Relative macrocephaly, Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, M...	OMIM:602398
Peho Syndrome	Anteverted nares, Microcephaly, Tapered finger, Hydrocephalus, Flexion contracture, Limitation of...	ORPHA:2836
Kabuki Syndrome 2	Joint laxity, Natal tooth, Highly arched eyebrow, Microcephaly, Micrognathia, Broad nasal tip, Hi...	OMIM:300867
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Round face, Depressed nasal bridge, Choroid plexus c...	OMIM:612462
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Sparse hair, Clinodactyly of t...	OMIM:115150
Six2-Related Frontonasal Dysplasia	Frontal bossing, Absent/hypoplastic paranasal sinuses, Depressed nasal bridge, Broad nasal tip, H...	ORPHA:488437
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Later...	OMIM:618914
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Brittle hair, Prominent nasal bridge, Hype...	ORPHA:50814
Multiple Synostoses Syndrome 2	Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Pr...	OMIM:610017
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Frontal bossing, Arachnodactyly, Hydrocephalus, Joint hyperflexibility, Shoulder dislocation, Add...	ORPHA:2181
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Sparse hair, Clinodactyly ...	ORPHA:2750
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Single transverse palmar crease, Micrognathia, Anteverted nares, Rhizomelia, Hypertel...	OMIM:611209
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Depressed nasal bridge, Rhizomelia, Wide anterior fontanel, Hydrocephalus, Tibia...	OMIM:616482
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal facial shape, Abnormal ul...	ORPHA:177910
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Hydrocephalus, Low posterior hairline, Cubitus valgus, Sh...	ORPHA:2183
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Mandibular prognathia, Frontal bossing, Communicating hydrocephalus, Joint laxity, Arachnodactyly...	OMIM:617011
12Q14 Microdeletion Syndrome	Frontal bossing, Thick eyebrow, Wide nose, Prominent nasal bridge, Microcephaly, Micrognathia, Hy...	ORPHA:94063
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Hypertelorism, Wide nasal bridge, Osteopetrosi...	ORPHA:1522
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Bowing of the legs, Hypertelorism, Short toe, Hydrocephalus, A...	OMIM:269860
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Wide nose, Coarse facial features,...	ORPHA:85201
Teebi Hypertelorism Syndrome 1	Natal tooth, Frontal bossing, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis...	OMIM:145420
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Depressed nasal bridge, Anteverted nares, Overlapping toe, Prominent nose, Hyperteloris...	OMIM:618316
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Dislocated radial...	OMIM:130070
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Wide n...	OMIM:224410
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Metaphyseal widening, Bulbous nose, Craniofacial osteosclerosis, Diaphyseal scl...	OMIM:618476
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia	OMIM:166990
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Broad eyebrow, Long face, Ulnar deviation of the hand, Proximal pl...	OMIM:620113
Squalene Synthase Deficiency	Depressed nasal bridge, Micrognathia, Elbow flexion contracture, 2-3 toe syndactyly, Abnormality ...	OMIM:618156
Orofaciodigital Syndrome I	Dry hair, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Hypertelorism, Supernumerary toot...	OMIM:311200
Bresek Syndrome	Alopecia, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, Plagiocephaly, Convex nasal ridge	ORPHA:85284
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Relative macrocephaly, Frontal bossing, Coarse facial features, Depressed nasal bridge, Wide nasa...	ORPHA:397709
Marshall Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Micrognathia, Hypopl...	ORPHA:560
Nasopalpebral Lipoma-Coloboma Syndrome	Depressed nasal bridge, Hypertelorism, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, W...	OMIM:167730
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Short tibia, Dandy-Walker mal...	OMIM:616300
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Frontal bossing, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Clinodact...	ORPHA:397590
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Hypotelorism, Sparse hair, Joint laxity, Anteverted nares, Thin ...	OMIM:218330
Marshall-Smith Syndrome	Brittle hair, Large sternal ossification centers, Synophrys, Distal widening of metacarpals, Coxa...	OMIM:602535
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal hair pattern, Large hands, Short columella, ...	ORPHA:1770
Leri Pleonosteosis	Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger morphology, Abnormal...	ORPHA:2900
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Microcephaly, Clinodactyly of the 5th finger, Cubitus valgus, Retrognathia, Hy...	OMIM:620237
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Ventricu...	ORPHA:1647
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Prominent nasal bridge, Craniosynostosis, Microcephaly, Broad nasal tip, Plagi...	ORPHA:457193
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernume...	ORPHA:1433
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Malar flattening, Fl...	ORPHA:921
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Hypertelorism, Clinodactyly of the 5th finger, Abnormal v...	OMIM:244600
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Micrognathia, Hypoplastic toenails, Depressed nasal ridge, Deeply set eye,...	ORPHA:261337
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Micrognathia, Microcephaly, Hypertelorism, 2-3 toe syndactyly, Small thenar emin...	OMIM:239800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Micrognathia, Proximal femoral metaphyseal irregularity, Early ossificat...	ORPHA:397715
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Narrow face, Round face, Single transverse palma...	OMIM:123450
Pseudopseudohypoparathyroidism	Round face, Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short dis...	ORPHA:79445
Jacobsen Syndrome	Flat occiput, Anteverted nares, Depressed nasal bridge, Trigonocephaly, Microcephaly, Abnormal ey...	OMIM:147791
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Hydrocephalus, Congenital, X-Linked	Thumb contracture, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Adducted thumb	OMIM:307000
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Hypertelorism, Brachycephaly, Bifid nose, Midline defect of the nose, ...	OMIM:229400
Frias Syndrome	Hypertelorism, Proptosis, Micrognathia	OMIM:609640
Isolated Exencephaly	Depressed nasal bridge, Abnormal facial skeleton morphology, Abnormal calvaria morphology, Propto...	ORPHA:563612
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Hypoplasia of the maxilla, Brachycephaly, Coronal craniosyno...	OMIM:614188
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Deeply set eye, Short long bone, Short femoral neck, Thi...	OMIM:602152
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Clinodacty...	ORPHA:264450
Macs Syndrome	Joint laxity, Alopecia, Coarse facial features, Single transverse palmar crease, Micrognathia, Sp...	OMIM:613075
Nablus Mask-Like Facial Syndrome	Single transverse palmar crease, Hypoplasia of the maxilla, Low anterior hairline, Sparse hair, A...	OMIM:608156
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Abse...	ORPHA:158687
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Aicardi-Goutieres Syndrome 4	Hydrocephalus, CSF lymphocytic pleiocytosis, Progressive microcephaly, Convex nasal ridge, Ventri...	OMIM:610333
Emanuel Syndrome	Broad jaw, Ventriculomegaly, Congenital hip dislocation, Delayed eruption of primary teeth, Micro...	OMIM:609029
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Abnormal dental enamel morphology, Elbow dislocation, Po...	ORPHA:2916
Houge-Janssens Syndrome 1	Congenital hip dislocation, Hypertelorism, Hydrocephalus, Deeply set eye, Macrocephaly, Ventricul...	OMIM:616355
Autosomal Recessive Robinow Syndrome	Micrognathia, Clinodactyly of the 5th finger, Synostosis of carpal bones, Bilateral single transv...	ORPHA:1507
Frontorhiny	Encephalocele, Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Widow's peak, H...	ORPHA:391474
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl...	OMIM:614091
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Deeply set eye, Broad thumb, Triangular face, Brachydactyly	OMIM:614526
Marbach-Schaaf Neurodevelopmental Syndrome	Round face, Depressed nasal bridge, Microcephaly, Tapered finger, Broad nasal tip, Hypotelorism, ...	OMIM:619680
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Ante...	ORPHA:536467
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Hypertelorism, Hydrocephalus, Camptodactyly, Dandy-Walker malf...	OMIM:614846
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture, Hypotelorism	OMIM:619091
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S...	OMIM:608728
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Depressed nasal bridge, Split ...	OMIM:253200
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Microcephaly, Ventriculomegaly, Dislocated radial head	OMIM:304100
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Osteoarthritis, Osteolysis,...	ORPHA:1657
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe, Midface retrusion	OMIM:612581
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Hirsutism, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Hypertelorism, Wide nasal bridge, Genu valgum, Low posterior hairline, Joi...	ORPHA:1778
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Brachycephaly, Hand polydactyly, Bilateral single transverse pa...	ORPHA:2377
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Proteus-Like Syndrome	Mandibular prognathia, Communicating hydrocephalus, Anteverted nares, Hydrocephalus, Macrocephaly...	ORPHA:2969
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Round face, Coarse facial features, Ventriculomegaly, Joint hypermobility,...	ORPHA:404443
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Highly arched eyebrow, Micrognathia, Hypertelorism, Shor...	OMIM:619775
Acrocallosal Syndrome	Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Tape...	OMIM:200990
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Hypertelorism, Micrognathia, Flat face, Clinodactyly of the 5th finger, Broad thumb	ORPHA:2001
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Depressed nasal ridge, Brachycephaly, Sparse hair, Bro...	OMIM:613451
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Osteoporosis, Albinism	ORPHA:2786
Kniest Dysplasia	Enlarged epiphyses, Round face, Depressed nasal bridge, Abnormality of the epiphysis of the femor...	ORPHA:485
Trisomy 8Q	Camptodactyly of finger, Hypertelorism, Micrognathia, Joint stiffness, Myelomeningocele, Bone cys...	ORPHA:1752
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl...	ORPHA:3107
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Reduced bone mineral density, Abnormal ep...	ORPHA:2770
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Alexander Disease	Increased CSF protein concentration, Hydrocephalus, Progressive macrocephaly	OMIM:203450
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Wide nose, Round face, Iliac crest serration, Anteverted nares, Depressed nasal ...	OMIM:613320
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Synophrys, Anosmia, Wide nasal bridge, Cutaneous finger syndactyly, Thick ...	OMIM:210745
Laurin-Sandrow Syndrome	Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact...	OMIM:135750
Poikiloderma With Neutropenia	Joint laxity, Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Carious teeth, ...	OMIM:604173
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Chops Syndrome	Curly hair, Round face, Coarse facial features, Anteverted nares, Thick hair, Microcephaly, Hyper...	OMIM:616368
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Abnormal fingernail morpholog...	ORPHA:1319
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Trigonocephaly, Micro...	ORPHA:1587
Holoprosencephaly	Flat occiput, Synophrys, Depressed nasal ridge, Hypotelorism, Deeply set eye, Absent nares, Holop...	ORPHA:2162
Desmosterolosis	Frontal bossing, Increased bone mineral density, Depressed nasal bridge, Micromelia, Micrognathia...	ORPHA:35107
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Abnormality of retinal pigmentation, Coarse facial features, Hydroceph...	OMIM:309900
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Alopecia, Multiple joint contractures, Microcephaly, Micrognathia, Bird-like facies, ...	ORPHA:2959
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Branchial cyst, Single transverse palmar crease, Ankle ...	ORPHA:435938
Van Maldergem Syndrome 2	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Clinodactyly, Cutan...	OMIM:615546
Jansen-De Vries Syndrome	Anteverted nares, Parietal foramina, Small hand, Short foot, Small nail, Brachydactyly	OMIM:617450
Intellectual Developmental Disorder, Autosomal Dominant 57	Long face, Prominent nasal bridge, Craniosynostosis, Microcephaly, Broad nasal tip, Hypertelorism...	OMIM:618050
X Small Rings	Joint laxity, Coarse facial features, Toe syndactyly, Anteverted nares, Tapered finger, Hypertelo...	ORPHA:96201
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Overlapping toe, Choanal atresia, Single transverse palmar crease, Mic...	OMIM:619148
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, Wide nasal bridge, 2-3 toe syndactyly, 3-4 finger syn...	OMIM:600906
Mucopolysaccharidosis Type 1	Coarse facial features, Sinusitis, Depressed nasal bridge, Dolichocephaly, Abnormal nasal morphol...	ORPHA:579
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G...	OMIM:300106
Brittle Cornea Syndrome 1	Joint laxity, Congenital hip dislocation, Palmoplantar cutis laxa, Macrocephaly, Red hair, Dentin...	OMIM:229200
Edinburgh Malformation Syndrome	Frontal hirsutism, Hydrocephalus	OMIM:129850
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Cardiospondylocarpofacial Syndrome	Failure of eruption of permanent teeth, Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Synophrys, Dislocated radial head, Joint laxity...	OMIM:102500
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal occipital ...	ORPHA:3472
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Brachycephaly, Advanced eruption of ...	ORPHA:404448
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microcephaly, Abnorm...	ORPHA:559
Infantile Systemic Hyalinosis	Short palm, Osteopenia, Coarse facial features, Camptodactyly of finger, Osteomalacia, Recurrent ...	ORPHA:2176
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Microcephaly, Broad nasal tip, Hypertelorism, Wide nasal bridge, Shortening of all ...	OMIM:614749
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Choanal stenosis, Spina...	OMIM:218600
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Brachycephaly, Cutaneous finger synd...	OMIM:211380
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Rocker bottom foot, Tapered finger, Hypertelorism, Brachycephaly, Finger ...	OMIM:601353
Teebi-Shaltout Syndrome	Syndactyly, Turricephaly, Ulnar deviation of the hand, Slow-growing hair, Single transverse palma...	OMIM:272950
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ...	OMIM:184250
Hirschsprung Disease-Type D Brachydactyly Syndrome	Brachydactyly, Aplastic/hypoplastic toenail, Short distal phalanx of the thumb, Short phalanx of ...	ORPHA:2150
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Anteverted nares, Sandal gap, Craniosyn...	ORPHA:254346
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p...	ORPHA:2920
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Congenital Myopathy 22A, Classic	Hip contracture, Frontal bossing, Scapular winging, Micrognathia, Synophrys, Scaphocephaly, Osteo...	OMIM:620351
Carey-Fineman-Ziter Syndrome	Anteverted nares, Microcephaly, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar devia...	ORPHA:1358
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Tapered finger, Hypo...	ORPHA:477993
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Orofacial Cleft 15	Agenesis of lateral incisor, Sparse eyelashes, Single transverse palmar crease, Hypertelorism, Sp...	OMIM:616788
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Absent toe, Sp...	ORPHA:974
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Frontal bossing, Toe syndactyly, Microcephaly, Bulbous nose, Hydrocephalus,...	ORPHA:250989
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular iliac crest, Abnormality of the epiphysis of the femoral head, S...	ORPHA:93316
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of the 5th finger, S...	OMIM:300373
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Micrognathia, Microcephaly, Hydrocephalus, Hydranencephaly, Joint contracture, ...	OMIM:225790
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Hypertelorism, Flexion contracture, Hyperextensible hand joints, Sho...	OMIM:275900
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Kbg Syndrome	Vertebral fusion, Syndactyly, Round face, Anteverted nares, Single transverse palmar crease, Prom...	OMIM:148050
Robinow Syndrome	Micrognathia, Fused thoracic vertebrae, Syndactyly, Anteverted nares, Depressed nasal bridge, Per...	ORPHA:97360
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Mosaic Trisomy 1	Single transverse palmar crease, Hypoplastic thumbnail, Finger clinodactyly, Absent distal interp...	ORPHA:1692
Icf Syndrome	Communicating hydrocephalus, Depressed nasal bridge, Hypertelorism, Micrognathia, Macrocephaly, F...	ORPHA:2268
Joubert Syndrome With Oculorenal Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Hydrocephalus, Ha...	ORPHA:2318
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Fragile nails, Brachydactyly	OMIM:248300
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ...	OMIM:615503
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Abnormality of ...	ORPHA:2189
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Pro...	ORPHA:435638
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long face, Osteopenia, Depressed nasal bridge, Long nose, Hydrocephalus, Slender long bone, Deepl...	OMIM:618590
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Prominent nasal...	OMIM:309583
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Micrognathia, Brachycephaly, Deeply set eye, Abnormal facial sha...	ORPHA:96121
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Hypert...	OMIM:617925
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera...	ORPHA:2890
Carpenter Syndrome 2	Single transverse palmar crease, Preaxial polydactyly, Brachycephaly, Coxa vara, Low anterior hai...	OMIM:614976
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Frontal bossing, Bowed humerus, Depressed nasal bridge, Flexion co...	OMIM:619479
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Prominent nasal bridge, Sparse scalp ...	ORPHA:978
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss...	OMIM:210710
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Wide ...	OMIM:601390
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Microcephaly, Hydrocephalus, Hip dysplasia, Enamel hypoplasia, Retrognathi...	OMIM:614576
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Facial asymmetry, Micrognathia,...	ORPHA:989
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Depressed nasal bridge, Hypertelorism, Short metatarsal, Wide nasal...	OMIM:613328
White-Sutton Syndrome	Mandibular prognathia, Joint laxity, Depressed nasal bridge, Microcephaly, Micrognathia, Broad na...	OMIM:616364
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Curved middle phalanx of the 4th toe, Frontal bossing, Arachnodactyly, Antever...	ORPHA:276413
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ...	OMIM:231070
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Congenital hip dislocation, Brittle hair, Cleft ala nasi, ...	OMIM:305600
Joubert Syndrome	Encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Hydrocephalus, Ha...	ORPHA:475
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Hypertelorism, Hydrocephalus, Flexion contracture...	ORPHA:314588
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Ventriculomegaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly...	OMIM:257300
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Microcephaly, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Hypoplasia of...	ORPHA:2399
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Communicating hydrocephalus, Osteopenia, Brachycephaly, Cortical thickenin...	ORPHA:309282
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Mi...	OMIM:277170
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Abnormal eyelash morphology, Wide nasal ...	ORPHA:1252
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra...	OMIM:617405
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Prominent nose, Synophrys, ...	OMIM:612474
Achondrogenesis, Type Ii	Microretrognathia, Frontal bossing, Absent vertebral body mineralization, Broad long bones, Short...	OMIM:200610
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Ventriculomegaly, Hydrocephalus, Deeply set eye, Macrocephaly, Re...	OMIM:614643
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Frontal bossing, Postaxial polydactyly, Hydrocephalus, Knee flexion contracture, Macrocephaly, Ve...	OMIM:603387
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Abnormality of skin pigmentation,...	ORPHA:193
Mucopolysaccharidosis, Type Vii	Thick eyebrow, Coarse facial features, Joint stiffness, Metatarsus adductus, Hydrocephalus, Recur...	OMIM:253220
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Ge...	OMIM:615630
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Sparse eyebrow, Short palm, Retrognathia	ORPHA:73246
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Flat occiput, Synophrys, Prominent protruding coccyx, Deeply set eye, Sparse hair, Lo...	OMIM:300966
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Coarse facial features, Anteverted nares, Short hallux, ...	ORPHA:1517
Maternal Phenylketonuria	Anteverted nares, Microcephaly, Micrognathia, Bifid distal phalanx of the thumb, Wide nasal bridg...	ORPHA:2209
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Distal Deletion 9P	Hypertelorism, Wide nasal bridge, Proptosis, Trigonocephaly, Short nose, Midface retrusion, Brach...	ORPHA:1642
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Short...	OMIM:268400
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Single transverse palmar crease, Micrognathia, Broad nasal tip, Synophrys, Hydr...	OMIM:614969
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Mosaic Trisomy 8	Frontal bossing, Wide nose, Anteverted nares, Camptodactyly of finger, Broad nasal tip, Micrognat...	ORPHA:96061
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Anteverted nares, Highly arched eyebrow, Microcephaly, Micrognathia, Hypertelorism,...	OMIM:617062
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Stromme Syndrome	Prominent nasal bridge, Micrognathia, Microcephaly, Hypertelorism, Hydrocephalus, Preaxial polyda...	OMIM:243605
Lateral Meningocele Syndrome	Vertebral fusion, Micrognathia, Hypertelorism, Hydrocephalus, Meningocele, Coarse hair, Sclerosis...	OMIM:130720
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Brachycephaly, Coarse hair...	OMIM:612289
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polydactyly,...	OMIM:619879
Osteopetrosis, Autosomal Recessive 5	Square face, Increased bone mineral density, Micrognathia, Microcephaly, Hydrocephalus, Cranial h...	OMIM:259720
Meester-Loeys Syndrome	Relative macrocephaly, Frontal bossing, Arachnodactyly, Joint hypermobility, Dolichocephaly, Hype...	OMIM:300989
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Coarse facial features, Arachnodactyly, Abnormal dent...	ORPHA:96169
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Hydrocephalus, Ventriculomegaly, Microcephaly	ORPHA:858
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Joubert Syndrome With Renal Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Hydrocephalus, Ha...	ORPHA:220497
Monosomy 18Q	Mandibular prognathia, Arachnodactyly, Depressed nasal bridge, Abnormal palmar dermatoglyphics, M...	ORPHA:1600
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Limited knee extension, W...	ORPHA:239
Satoyoshi Syndrome	Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of the hand, Ge...	OMIM:600705
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Macrocephaly	OMIM:615191
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Coarse facial features, Soft tissue swelling of interphalangeal joints, Cr...	OMIM:252600
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Frontal bossing, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Long eyelas...	OMIM:608624
Opsismodysplasia	Frontal bossing, Short metacarpal, Anteverted nares, Depressed nasal bridge, Rhizomelia, Hypertel...	OMIM:258480
Alg6-Cdg	Hypertelorism, Abnormal facial shape, Shortening of all distal phalanges of the fingers, Brachyda...	ORPHA:79320
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Osteopenia, Short femur, Anteverted nares, Metaphys...	OMIM:618188
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Abnormal facial shape, Multiple ca...	ORPHA:1445
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Hydrocephalus, Yellow-brown disco...	ORPHA:1946
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Wide nose, Round face, Camptodactyly of finger, Underdeveloped nasal alae, Mic...	ORPHA:284160
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Brachycephaly, Hypotelorism, Deeply set eye, Parietal bossing,...	OMIM:264090
Oculodentodigital Dysplasia	Dry hair, Joint contracture of the 5th finger, Sparse hair, Vertebral hyperostosis, Anteverted na...	OMIM:164200
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Flat occiput, Cessation of head growth, Mild mic...	ORPHA:411511
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Microcephaly, ...	OMIM:616038
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Narrow face, Fron...	ORPHA:1225
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Communicating hydrocephalus, Short fourth metatarsal, Single transverse pa...	OMIM:619841
Orofaciodigital Syndrome Iii	Hyperconvex nail, Hypertelorism, Supernumerary tooth, Bulbous nose, Postaxial hand polydactyly, P...	OMIM:258850
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Hurler Syndrome	Large face, Frontal bossing, Coarse facial features, Anteverted nares, Camptodactyly of finger, D...	ORPHA:93473
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Nail dysplasia, Camptodac...	OMIM:603543
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Fle...	ORPHA:666
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Syndactyly, Frontal...	OMIM:151050
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Frontal bossing, Sandal gap, Sparse eyelashes, Anteverted nares, H...	OMIM:612863
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short metacarpal, Anteverted nares, Depressed nasal bridge, Microcephaly, Broad ...	OMIM:617157
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of...	OMIM:143095
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Hydrocephalus, Brachycephaly, Abnormal shape of the occiput, Malar flattening, B...	OMIM:218350
2,4-Dienoyl-Coa Reductase Deficiency	Microcephaly, Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentrat...	OMIM:616034
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Square face, Round face, Underdeveloped nasal alae, Micrognathia, H...	OMIM:614230
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Round face, Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Joubert Syndrome With Ocular Defect	Encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Hydrocephalus, Ha...	ORPHA:220493
Cranioectodermal Dysplasia 2	Micrognathia, Sparse hair, Joint laxity, Syndactyly, Cloverleaf skull, Depressed nasal bridge, Rh...	OMIM:613610
Aymé-Gripp Syndrome	Brachycephaly, Shallow orbits, Clinodactyly of the 5th finger, Depressed nasal bridge, Tapered fi...	ORPHA:1272
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Toriello-Carey Syndrome	Ventriculomegaly, Microcephaly, Sparse eyebrow, Wide anterior fontanel, Micrognathia, Clinodactyl...	ORPHA:3338
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Coarse facial features, Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, A...	ORPHA:2182
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Relative macrocephaly, Microcephaly, Hydrocephalus, Flexion contracture, Small hand, Brachycephal...	ORPHA:500055
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Joint stiffness, Micrognathia, Fibrous syngna...	ORPHA:1300
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Mandibular prognathia, Communicating hydrocephalus, Ventriculomegaly, Joint laxity, Arachnodactyl...	ORPHA:457359
Joubert Syndrome 14	Encephalocele, Prominent nasal bridge, Highly arched eyebrow, Postaxial polydactyly, Hyperteloris...	OMIM:614424
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Ventriculomegaly, Congenital hip dislocation, Multiple join...	ORPHA:96170
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Deeply set eye, Joint laxity, Antev...	OMIM:619325
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the hand, Cario...	ORPHA:3194
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenos...	ORPHA:314679
Ermine Phenotype	Hypopigmentation of hair, Toe syndactyly, Microcephaly, Abnormality of the nose, Ocular albinism,...	ORPHA:999
Alg9-Cdg	Micrognathia, Brachycephaly, Narrow greater sciatic notch, Shallow orbits, Abnormal bone ossifica...	ORPHA:79328
Witteveen-Kolk Syndrome	Narrow face, Proximal placement of thumb, Clinodactyly, Deeply set eye, Short palm, Clinodactyly ...	OMIM:613406
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Micrognathia, Metaphyseal widening, Sparse hair, Hypopigmentation of th...	OMIM:252500
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Fragile nails, Spa...	OMIM:218040
Cinca Syndrome	Frontal bossing, Reduced bone mineral density, Proptosis, Macrocephaly, Brachydactyly	ORPHA:1451
3Mc Syndrome 1	Single interphalangeal crease of fifth finger, Highly arched eyebrow, Microcephaly, Supernumerary...	OMIM:257920
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Sparse scalp hair, Round face, Frontal bossing, Depressed nasal bridge, Micrognathia, 2-3 toe cut...	OMIM:620029
Arboleda-Tham Syndrome	Mandibular prognathia, Deeply set eye, Sparse medial eyebrow, Genu varum, Microretrognathia, Long...	OMIM:616268
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Secondary microcephaly	ORPHA:397951
Developmental And Epileptic Encephalopathy 95	Joint laxity, Short digit, Short fourth metatarsal, Coarse facial features, Multiple joint contra...	OMIM:618143
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Wide nasal base, Bilateral talipes equinovarus, Wide nasal bridge	OMIM:616521
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Brachydactyly, Absent nipple, Sparse eyelashes,...	OMIM:209885
Mgat2-Cdg	Osteopenia, Hypertelorism, Low hanging columella, Hirsutism, Abnormal facial shape, Long eyelashe...	ORPHA:79329
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus, Secondary microcephaly, Microcephaly	OMIM:615599
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Flexion...	OMIM:180849
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Microretrognathia, Hypoplastic fingernail, Coarse facial features, Proport...	ORPHA:280633
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent...	OMIM:616229
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of fing...	OMIM:266920
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Wide nasal bridge, Sho...	OMIM:614376
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Flexion contracture, Microcephaly	OMIM:613155
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Generalized hyperpigmentation, Sparse eyelashes, Ab...	ORPHA:1071
Combined Oxidative Phosphorylation Deficiency 2	Mild fetal ventriculomegaly, Brachydactyly	OMIM:610498
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thick eyebrow, Square face, Depressed nasal bridge, Ventriculomegaly, Single transverse palmar cr...	ORPHA:466950
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Sp...	OMIM:600987
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Anteverted nares, Postaxial polydactyly, Hypertelorism, Joint hypermobility, Abnorm...	ORPHA:457284
Down Syndrome	Joint laxity, Sandal gap, Depressed nasal bridge, Bilateral single transverse palmar creases, Dep...	ORPHA:870
Diabetic Embryopathy	Frontal bossing, Micrognathia, Microcephaly, Hydrocephalus, Spinal dysraphism	ORPHA:1926
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnor...	ORPHA:667
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Tetraphocomelia, Knee flexion contracture, Shallow orbits, Sparse ha...	OMIM:268300
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,...	ORPHA:85167
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Round face, Depressed nasal bridge, Thin nail, Coxa valga, Hypoplastic ...	OMIM:617561
Joubert Syndrome 2	Encephalocele, Frontal bossing, Enlarged fossa interpeduncularis, Depressed nasal bridge, Hyperte...	OMIM:608091
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Round face, Depressed nasal bridge, Joint stiffness, Micrognathi...	ORPHA:2062
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macrocephaly	OMIM:300886
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Short metacarpal, Long eyebrows, Hypertelorism, Widow's peak, Wide nasal b...	OMIM:201180
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Biparietal narrowing, Holoprosencephaly, Advanced erup...	ORPHA:818
Cree Mental Retardation Syndrome	Rocker bottom foot, Hypertelorism, Micrognathia, Brachycephaly, Cutaneous finger syndactyly, Tria...	OMIM:606851
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Frontal bossing, Depressed nasal bridge, Anteverted nares, Craniosyn...	ORPHA:1064
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Frontal bossing, Microcephaly, Bulbous nose, Hydrocephalus, Colpocep...	OMIM:615219
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Short toe, Coarse facial features, Brachydactyly	ORPHA:3085
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Short distal ...	ORPHA:957
Acromelic Frontonasal Dysostosis	Syndactyly, Broad nasal tip, Bifid nasal tip, Hypertelorism, Parietal foramina, Preaxial polydact...	OMIM:603671
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Finger syndactyly, Sparse scalp hair, Overlapping fingers, Anteverted nare...	ORPHA:464738
Holoprosencephaly 14	Frontal bossing, Ventriculomegaly, Anteverted nares, Proboscis, Microcephaly, Alobar holoprosence...	OMIM:619895
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Round face, Prominent nasal bridge, Highly arched eyebrow, Hypertelorism, Shor...	ORPHA:1519
Pseudohypoparathyroidism Type 1A	Thickened calvaria, Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depresse...	ORPHA:79443
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Deeply set eye, Clinodactyly of the 5th f...	OMIM:136140
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmen...	ORPHA:84
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia...	OMIM:615994
Alg12-Cdg	Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Abnormal bone ossification, C...	ORPHA:79324
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Sparse scalp hair, Hypertelorism, Sparse eyebrow, Wide nasal bridge	ORPHA:66629
Peters-Plus Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Hypoplasia of the max...	OMIM:261540
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda...	OMIM:615986
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Microcephaly, Hydrocephalus, Postaxial hand polydactyly,...	OMIM:611134
Adams-Oliver Syndrome 6	Syndactyly, Hypoplastic toenails, Foot oligodactyly, Calvarial skull defect, Brachydactyly	OMIM:616589
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Increased bone mineral density, Micrognathia, Bulbous nose, Wide nas...	ORPHA:1237
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Prader-Willi Syndrome	Osteopenia, Narrow nasal bridge, Syndactyly, Hypopigmentation of hair, Dolichocephaly, Carious te...	OMIM:176270
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Flat occiput, Micrognathia, Metatarsus adductus, Small hand, Genu valgum, Short foo...	ORPHA:300570
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Camptod...	OMIM:265000
Mend Syndrome	Microretrognathia, Overlapping toe, Broad hallux, Prominent nasal bridge, Micrognathia, Long fing...	OMIM:300960
Noonan Syndrome	Abnormal hair quantity, Triangular face, Micrognathia, Hypertelorism, Melanocytic nevus, Low post...	ORPHA:648
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Tarp Syndrome	Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial po...	OMIM:311900
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Hydranencephaly, Abnormal facial shape, Dandy-Walker malformati...	OMIM:617967
Alexander Disease Type I	Hydrocephalus, Progressive macrocephaly	ORPHA:363717
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Cessation of head growth, Secondary microcephaly...	ORPHA:98795
Methylcobalamin Deficiency Type Cble	Syndactyly, Microcephaly, Hydrocephalus, Osteoporosis, Clinodactyly, Ventriculomegaly	ORPHA:2169
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Limitation of movement at ankles, Hypopigmentation of hair, Flat occiput, ...	ORPHA:98794
47,Xyy Syndrome	Hypertelorism, Hydrocephalus, Finger clinodactyly, Macrocephaly, Malar flattening	ORPHA:8
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Short phala...	OMIM:263650
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Roun...	ORPHA:79444
Axial Mesodermal Dysplasia Spectrum	Hypertelorism, Micrognathia, Hydrocephalus, Abnormal pelvic girdle bone morphology, Facial asymmetry	ORPHA:1834
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Micrognathia, Hypertelorism, Brachy...	ORPHA:264200
Toriello-Lacassie-Droste Syndrome	Short palm, Generalized hyperpigmentation, Anteverted nares, Abnormal facial shape, Proptosis, Ma...	ORPHA:3339
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, Short tibia, Finger syndactyly, Broad hallux, Adactyly, Talon ...	ORPHA:2751
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of ski...	OMIM:133540
Craniofacioskeletal Syndrome	Choanal atresia, Microcephaly, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot,...	OMIM:300712
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling, Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Microcephaly, Postaxial hand polydacty...	ORPHA:2166
Monosomy 9Q22.3	Delayed eruption of teeth, Palmar pits, Hydrocephalus, Joint hyperflexibility, Polydactyly, Macro...	ORPHA:77301
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Round face, Depressed nasal bridge, Anteverted nares, Limited elbow movemen...	OMIM:617809
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anteverted nares, Microcephaly, Hypertelorism, Joint stiffness, Flexion contracture, Depressed na...	ORPHA:847
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Abnormal toenail morphology, Abnormal fingernail m...	ORPHA:444077
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Waardenburg Syndrome, Type 1	Mandibular prognathia, White eyelashes, Partial albinism, White eyebrow, Hypertelorism, Underdeve...	OMIM:193500
Monosomy 22	Finger syndactyly, Wide nose, Single transverse palmar crease, Synophrys, Clubbing, Prominent occ...	ORPHA:96123
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Supernumerary ni...	OMIM:263750
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Prominent nose, Ivory epiphyses of the phalanges of the hand, Ab...	OMIM:216400
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Sinusitis, Coarse facial features, Facial asymmetry, Micrognathia, Hypertelor...	ORPHA:363700
17Q24.2 Microdeletion Syndrome	Otosclerosis, Triangular face, Micrognathia, Hypertelorism, Synophrys, Hemihypotrophy of lower li...	ORPHA:529962
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Single transverse palmar crease, Hypertelorism, Osteopetrosis, Cafe-au-...	OMIM:618541
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Palmoplantar hyperkeratosis, Sparse hair, Clinodactyly of the 5th finger, Depresse...	OMIM:280000
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Hypertelorism, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge	OMIM:601499
Alg8-Cdg	Hypertelorism, Talipes equinovarus, Camptodactyly, Abnormal facial shape, Ventriculomegaly, Brach...	ORPHA:79325
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Hypertelorism, Split h...	ORPHA:2008
Holoprosencephaly 9	Depressed nasal bridge, Hypoplasia of the premaxilla, Microcephaly, Hypoplasia of the maxilla, Po...	OMIM:610829
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly	ORPHA:1436
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Hypopigmented skin patches, Taurodontia, Mul...	ORPHA:3214
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Syndactyly, Frontal bossing, Narrow joint spaces of the elbow, Micrognathi...	ORPHA:96182
B4Galt1-Cdg	Hypertelorism, Hydrocephalus, Wide nasal bridge, Abnormal facial shape, Dandy-Walker malformation	ORPHA:79332
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Hypertelor...	OMIM:309350
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Cutaneous finger syndactyly, Choanal stenosis, E...	OMIM:219000
Meier-Gorlin Syndrome 7	Joint laxity, 2-4 finger syndactyly, Choanal atresia, Craniosynostosis, Sagittal craniosynostosis...	OMIM:617063
Tolchin-Le Caignec Syndrome	Thick eyebrow, Arachnodactyly, Prominent nose, Micrognathia, Hypertelorism, Scaphocephaly, Oxycep...	OMIM:618971
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hypertelorism, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyl...	OMIM:217085
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the el...	ORPHA:3015
Developmental And Epileptic Encephalopathy 49	Frontal bossing, Coarse facial features, Ventriculomegaly, Prominent nose, Microcephaly, Hydrocep...	OMIM:617281
Rin2 Syndrome	Sparse scalp hair, Coarse facial features, Joint hypermobility, Increased susceptibility to fract...	ORPHA:217335
Myoclonic-Astatic Epilepsy	Syndactyly, Anteverted nares, Frontal balding, Wide nasal bridge, Abnormal facial shape, Thick na...	ORPHA:1942
Multiple Sulfatase Deficiency	Coarse facial features, Anteverted nares, Broad hallux, Hydrocephalus, Broad thumb, Increased CSF...	OMIM:272200
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Hypoplasia of t...	ORPHA:2588
17Q12 Microduplication Syndrome	Finger syndactyly, Synophrys, Toe syndactyly, Deeply set eye	ORPHA:261272
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Absent th...	ORPHA:392
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Hydrocephalus, White hair, Ocular albinism, Reduced bone mineral density, Abnorma...	ORPHA:2720
Nevus Comedonicus Syndrome	Abnormal hair morphology, Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Weill-Marchesani Syndrome	Short thumb, Limitation of joint mobility, Brachydactyly	ORPHA:3449
Acrodysplasia Scoliosis	Spina bifida occulta, Brachydactyly	ORPHA:2956
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Mycophenolate Mofetil Embryopathy	Micrognathia, Hypoplastic toenails, Hypertelorism, Hydrocephalus, Bifid nose, Foot polydactyly, S...	ORPHA:268249
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Frontal bossing, Sinusitis, Anteverted nares, Slow-growing hair, Hypoplas...	ORPHA:238468
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Hypertelorism, Absent phalangeal crease, Retrognathia, Small thenar em...	OMIM:611929
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Arachnodactyly, Anteverted nares, Depressed nasal bridge, Microcephaly,...	ORPHA:2719
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Central Precocious Puberty In Male	Hydrocephalus, Abnormality of secondary sexual hair	ORPHA:649929
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas...	ORPHA:3440
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t...	ORPHA:198
Diencephalic Syndrome	Large hands, Hydrocephalus	ORPHA:1672
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5t...	OMIM:274000
Acro-Renal-Mandibular Syndrome	Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Narrow face, Micrognathia, Split...	ORPHA:958
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Postaxi...	ORPHA:1454
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Hypotelorism, Dandy-Walker malformation, Syndactyly, Hyper...	OMIM:249000
Basal Cell Nevus Syndrome 2	Palmar pits, Frontal bossing, Hydrocephalus, Macrocephaly	OMIM:620343
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Sparse hair, Microretrognathia, Scapular wingi...	OMIM:278250
Mucopolysaccharidosis Type 3	Adenoiditis, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse hair, Abnormal ...	ORPHA:581
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Microcephaly, Nail dysplasia, Short phalanx of finger, Brachydactyly	OMIM:600092
Bloom Syndrome	Syndactyly, Narrow face, Prominent nose, Recurrent upper respiratory tract infections, Spotty hyp...	OMIM:210900
Incontinentia Pigmenti	Abnormal hand morphology, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormal...	ORPHA:464
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Micrognathia, Hydrocephalus...	ORPHA:3301
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Coarse facial features, Recurrent upp...	ORPHA:508542
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone morphology, ...	ORPHA:63259
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo...	OMIM:602200
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Hydroc...	ORPHA:381
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Postaxial polydactyly, Brachydactyly	OMIM:600151
Congenital Sialidosis Type 2	Coarse facial features, Hydrocephalus, Macrocephaly, Polydactyly, Generalized hypertrichosis	ORPHA:93400
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Hypertelorism, Hyd...	OMIM:104350
Campomelia, Cumming Type	Coarse facial features, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Club...	ORPHA:1318
Gracile Bone Dysplasia	Hydrocephalus, Flared metaphysis, Slender long bone, Decreased skull ossification, Brachydactyly	OMIM:602361
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Fanconi Anemia, Complementation Group R	Hydrocephalus, Microcephaly, Radial dysplasia, Absent thumb	OMIM:617244
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Slow-growing hair, Choanal at...	ORPHA:1896
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Frontal bossing, Triangular face, Brachydactyly	ORPHA:3218
Craniotubular Dysplasia, Ikegawa Type	Thickened calvaria, Metaphyseal dysplasia, Coarse facial features, Thin bony cortex, Anteverted n...	OMIM:619727
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Frontal bossing, Depressed nasal bridge, Anteverted nar...	OMIM:181270
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Dahlberg-Borer-Newcomer Syndrome	Short distal phalanx of finger, Wide nasal bridge, Anonychia, Generalized hirsutism, Brachydactyly	ORPHA:1563
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Facial hirsutism, Cubitus valgus, High anterior hairli...	ORPHA:247768
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nare...	OMIM:616503
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, Hypoplastic i...	ORPHA:93315
Pallister-Hall Syndrome	Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Depressed nasal bridge, Anteverted nares, Ch...	OMIM:146510
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Hypertelorism, Wide nasal bridge, Short nose	OMIM:616430
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Hydrocephalus, Lateral ventricle dilatation,...	OMIM:612301
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Depressed nasal ridge, Brachycephaly, Deeply set eye, Clinodactyly of the 5th finger, ...	OMIM:607872
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Flat occiput, Hypertelorism, Preaxial hand polydactyly, ...	ORPHA:2211
Weill-Marchesani Syndrome 3	Joint stiffness, Brachydactyly	OMIM:614819
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Camptodactyly of finger, Rocker bottom foot, Microg...	OMIM:208150
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Tarp Syndrome	Finger syndactyly, Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Microgn...	ORPHA:2886
Lymphedema-Hypoparathyroidism Syndrome	Wide nasal bridge, Hypertrichosis, Increased carrying angle, Brachydactyly	OMIM:247410
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Congenital hip dislocation, Wide n...	OMIM:606170
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Talipes equinovarus, Slender finger, Dandy-Walker malformation	OMIM:147800
Meckel Syndrome	Encephalocele, Bowing of the long bones, Microcephaly, Micrognathia, Preaxial hand polydactyly, P...	ORPHA:564
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Facial asy...	OMIM:607932
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Prominent nasal bridge, Microcephaly, Micrognathia, Aplasia of the distal phalanx of the 5th toe,...	OMIM:608670
Degcags Syndrome	Osteopenia, Prominent nose, Micrognathia, Synophrys, Low anterior hairline, Hypotelorism, Abnorma...	OMIM:619488
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Pseudotrisomy 13 Syndrome	Encephalocele, Microcephaly, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Hypot...	OMIM:264480
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Abnormal metaphysis morphology, Limb undergrowth, Depressed nasal ridge	ORPHA:1861
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Recurrent fractures, Recurrent pharyngitis,...	ORPHA:168569
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Curry-Jones Syndrome	Duplication of thumb phalanx, Facial asymmetry, Unicoronal synostosis, Preaxial hand polydactyly,...	OMIM:601707
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Depressed nasal bridge, Small nail, Hypertelorism	OMIM:614520
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Frontal bossing, Alopecia, Anteverted nares, Depressed nasal bri...	ORPHA:96176
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Otosclerosis, Abnormality of retinal pigmentation, Wide nose, Coarse...	ORPHA:580
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Prominent nose,...	OMIM:150230
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Square face, Depressed nasal bridge, Single transverse palmar crease, Broad nasal tip, Hypertelor...	ORPHA:466943
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Abnormal facial shape, T...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Calcaneovalgus deformity, Prominent fingertip pads, Abnormal facial shape, T...	ORPHA:363958
Pallister-Hall Syndrome	Depressed nasal ridge, Holoprosencephaly, Microretrognathia, Mesoaxial polydactyly, Radial bowing...	ORPHA:672
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Hypertelorism, Postaxial hand polyd...	OMIM:609192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Low anterior hairline, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Developmental And Epileptic Encephalopathy 100	Brachydactyly, Depressed nasal bridge, Single transverse palmar crease, Micrognathia, Broad nasal...	OMIM:619777
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Depressed nasal bridge, Narrow nasal...	OMIM:275210
Fanconi Anemia, Complementation Group L	Micrognathia, Absent radius, Absent thumb, Hypertelorism, Hydrocephalus, Wide nasal bridge, Depre...	OMIM:614083
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hypertelorism, Bulb...	OMIM:616975
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Focal Dermal Hypoplasia	Narrow nasal bridge, Finger syndactyly, Alopecia, Toe syndactyly, Camptodactyly of finger, Abnorm...	ORPHA:2092
Fraser Syndrome 3	Wide nose, Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Convex nasal ridge	OMIM:617667
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly	ORPHA:398189
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Depressed nasal bridge, Hypertelorism, Hydrocephalus, Lateral ventricle dilatation, Macrocephaly,...	OMIM:619575
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Craniosynos...	OMIM:610168
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Geleophysic Dysplasia 1	Short palm, Osteopenia, Round face, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint ...	OMIM:231050
Charge Syndrome	Delayed eruption of teeth, Narrow face, Depressed nasal bridge, Choanal atresia, Highly arched ey...	ORPHA:138
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Facial asymmetry, Micrognathia, Hypertelorism, Limita...	ORPHA:2990
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Micrognathia, Short me...	OMIM:216340
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Cr...	ORPHA:2136
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndactyly, Holoprosence...	OMIM:270400
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Doors Syndrome	Abnormal finger morphology, Low anterior hairline, Brachycephaly, Absent fingernail, Triphalangea...	ORPHA:79500
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Flexion contracture, Brachycephaly, Knee flexion contractur...	OMIM:259050
Optic Pathway Glioma	Hydrocephalus, Proptosis	ORPHA:2086
Gm1 Gangliosidosis Type 1	Frontal bossing, Depressed nasal bridge, Broad nasal tip, Flared iliac wing, Short long bone, Abn...	ORPHA:79255
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Microcephaly, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Anteverted nares, Depressed nasa...	OMIM:312870
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Lhermitte-Duclos Disease	Trichilemmoma, Hydrocephalus, Hand polydactyly, Macrocephaly	ORPHA:65285
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal facial shape, Long face, Arachnodactyly, Abnormal dental enamel morphology...	ORPHA:567
Menkes Disease	Bowing of the long bones, Hypopigmentation of hair, Osteomyelitis, Tarsal synostosis, Recurrent f...	ORPHA:565
Peters Plus Syndrome	Micromelia, Micrognathia, Brachycephaly, Clinodactyly of the 5th finger, Spina bifida occulta, Lo...	ORPHA:709
Walker-Warburg Syndrome	Ventriculomegaly, Microcephaly, Hydrocephalus, Macrocephaly, Metatarsus valgus, Dandy-Walker malf...	ORPHA:899
Lethal Congenital Contracture Syndrome 10	Stiff neck, Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Overlapping finge...	OMIM:617022
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Sparse scalp hair, Prominent nasal bridge, Single transver...	OMIM:223370
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m...	ORPHA:93352
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Absent thumb	OMIM:276950
Ring Chromosome 12 Syndrome	Syndactyly, Abnormal 5th finger morphology, Dystrophic toenail, Abnormal facial shape, Symphalang...	ORPHA:1439
Bardet-Biedl Syndrome 1	Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda...	OMIM:209900
Proteus Syndrome	Central heterochromia, Abnormal finger morphology, Abnormality of skin pigmentation, Clinodactyly...	ORPHA:744
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Acro-Renal-Ocular Syndrome	Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Synophrys, Deeply set eye, Sparse hair, Long toe, Anteverted nares, Hypertelorism, Cr...	ORPHA:3455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Flexion contracture, Progressive microcephaly, Microcephaly	OMIM:615249
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Microcephaly, Hydrocephalus, Flexion contracture, Genu valgum, Deeply set eye, Generali...	OMIM:619321
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Neurofibromatosis, Type I	Inguinal freckling, Spina bifida, Hypertelorism, Aqueductal stenosis, Axillary freckling, Hydroce...	OMIM:162200
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Turricephaly, Camptodactyly of finger, Trismus, Hypopigmented skin patches, Pa...	ORPHA:2907
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Microcephaly, Metatarsus adductus, Micrognathia, Hydroce...	ORPHA:2461
Primary Ciliary Dyskinesia	Nasal polyposis, Hydrocephalus, Clubbing, Nasal congestion, Chronic rhinitis, Chronic sinusitis, ...	ORPHA:244
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Adducted thumb	ORPHA:275543
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Coarse facial features, Anteverted nares, Depressed nasal bridge, Tapered finger, Microcephaly, D...	OMIM:309580
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocyt...	OMIM:249400
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Prominent nasal bridge, Postaxial hand polydact...	ORPHA:110
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia	OMIM:243440
Plasminogen Deficiency, Type I	Hydrocephalus, Recurrent upper respiratory tract infections, Macrocephaly, Dandy-Walker malformat...	OMIM:217090
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Recur...	ORPHA:636
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Microcephaly, Macrocephaly, Hypoglycorrhachia, Brachydactyly	ORPHA:168577
1P36 Deletion Syndrome	Frontal bossing, Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Mi...	ORPHA:1606
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Synophrys, Abnormality of skin pigmentation, Deeply set eye, Abn...	OMIM:619475
Vacterl With Hydrocephalus	Spina bifida, Micrognathia, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dis...	ORPHA:3412
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Brachycephaly, Disproportionate shortening...	OMIM:263520
Tetrasomy 9P	Hypoplastic scapulae, Bilateral single transverse palmar creases, Abnormal dental enamel morpholo...	ORPHA:3310
Cog1-Cdg	Osteopenia, Rhizomelia, Micrognathia, Coxa valga, Hypertelorism, Wide nasal bridge, Flat acetabul...	ORPHA:263508
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Abnormality of hair pigmentation, Increased suscepti...	ORPHA:90354
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Postaxial hand polydactyly, Supernumerary tooth, A...	OMIM:617088
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Reduced bone mineral density, Abnormality of the...	ORPHA:1556
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Sim1-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Osteopenia, Hypopigmentation of hair, Small hand, Osteoporosis, Short foot, ...	ORPHA:398079
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Hypertelorism, Abnormal nasal morphology, Absen...	OMIM:200110
Orofaciodigital Syndrome Type 4	Finger syndactyly, Wide nose, Choanal atresia, Camptodactyly of finger, Micrognathia, Micromelia,...	ORPHA:2753
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Kabuki Syndrome	Highly arched eyebrow, Microcephaly, Hydrocephalus, Small hand, Hip dislocation, Joint hyperflexi...	ORPHA:2322
Kabuki Syndrome 1	Congenital hip dislocation, Joint hypermobility, Highly arched eyebrow, Microcephaly, Sparse eyeb...	OMIM:147920
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Clinodactyly of the 5th finger, Vertebral fusi...	ORPHA:373
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morpholo...	ORPHA:568
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Floating-Harbor Syndrome	Narrow nasal bridge, Short metacarpal, Brachydactyly, Persistence of primary teeth, Avascular nec...	ORPHA:2044
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Ventriculomegaly, Micrognathia, Microcephaly, Meningoencephalocele, Hydr...	OMIM:236670
Joubert Syndrome 33	Syndactyly	OMIM:617767
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Choanal atresia, Abnormal dental enamel morphology...	ORPHA:2363
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact...	ORPHA:69085
Knobloch Syndrome	Occipital encephalocele, Depressed nasal bridge, Abnormal hair morphology, Hydrocephalus, Joint h...	ORPHA:1571
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Hydrocephalus, Microcephaly	ORPHA:2306
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus	OMIM:312190
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Proptosis, Macrocephaly	ORPHA:97339
Alobar Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ridge, Hip dislocati...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ridge, Hip dislocati...	ORPHA:93926
Lobar Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ridge, Hip dislocati...	ORPHA:93924
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Small nail	OMIM:615631
Semilobar Holoprosencephaly	Proboscis, Microcephaly, Hydrocephalus, Flexion contracture, Depressed nasal ridge, Hip dislocati...	ORPHA:220386
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Synophrys, Hydrocephalus, Flexion cont...	ORPHA:3042
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Prea...	OMIM:616546
Alexander Disease	Large face, Frontal bossing, Osteopenia, Aqueductal stenosis, Hydrocephalus, Macrocephaly, Hyperp...	ORPHA:58
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Acrania, Joint stiffness, Micrognathia, Hypertelorism, Sho...	OMIM:618820
Down Syndrome	Joint laxity, Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Brushfield spo...	OMIM:190685
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly	OMIM:314390
Noonan Syndrome 1	Micrognathia, Hypertelorism, Cubitus valgus, Dental malocclusion, Synovitis, Low posterior hairli...	OMIM:163950
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Wide nose, Abnormal dental enamel morphology, Microcephaly, ...	ORPHA:2556
Neu-Laxova Syndrome 1	Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Hyper...	OMIM:256520
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation, Macrocephaly	OMIM:231670
Vici Syndrome	Hypopigmentation of hair, Wide nose, Depressed nasal bridge, Albinism, Microcephaly, Micrognathia...	OMIM:242840
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Joint laxity, Few cafe-au-lait spots, Narrow face, Sandal gap, Frontal bos...	OMIM:620330
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Frontal bossing, Hyper...	ORPHA:2308
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Microcephaly, Talipes equinovarus,...	OMIM:100300
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Osteopenia, Hypopigmentation of hair, Flexion contracture, Small hand, Osteo...	ORPHA:398069
Bardet-Biedl Syndrome 6	Syndactyly, Pigmentary retinopathy, Postaxial polydactyly	OMIM:605231
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Anteverted nares, Melanocytic nevus, Midl...	ORPHA:1969
Timothy Syndrome	Round face, Depressed nasal bridge, Cutaneous syndactyly	OMIM:601005
You-Hoover-Fong Syndrome	Clinodactyly, Microcephaly, Brachydactyly	OMIM:616954
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Neonatal Lupus Erythematosus	Hydrocephalus, Macrocephaly	ORPHA:398124
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Choanal atresia,...	OMIM:107480
Cardiospondylocarpofacial Syndrome	Joint laxity, Anteverted nares, Tarsal synostosis, Hypertelorism, Bulbous nose, Wide nasal bridge...	OMIM:157800
Neurocardiofaciodigital Syndrome	Syndactyly, Sparse eyebrow, Polydactyly, Sparse hair, Retrognathia, Overhanging nasal tip	OMIM:619869
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Prominent o...	ORPHA:2311
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Neurooculorenal Syndrome	Highly arched eyebrow, Short hallux, Aqueductal stenosis, Micrognathia, Hydrocephalus, Talipes eq...	OMIM:620305
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Hyperpigmented nevi and streak	OMIM:149000
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Prader-Willi Syndrome	Narrow nasal bridge, Osteopenia, Hypopigmentation of hair, Small hand, Osteoporosis, Increased su...	ORPHA:739
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Hypoplastic toenails, Dystrophic toenail, Absent toenail	OMIM:616028
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:616538
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Hydrocephalus, Hypopigmented skin patches, Abnormality of ski...	ORPHA:626
Orthostatic Hypotension 1	Nasal congestion, Joint hypermobility, Brachydactyly	OMIM:223360
Kindler Epidermolysis Bullosa	Finger syndactyly, Turricephaly, Camptodactyly of finger, Abnormal dental enamel morphology, Cari...	ORPHA:2908
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Micrognathia, Abnormal facial shape, Joint laxity, Syndactyly, Broad hallux, Highly arched eyebro...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Micrognathia, Abnormal facial shape, Joint laxity, Syndactyly, Broad hallux, Highly arched eyebro...	ORPHA:353277
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Reduced ...	OMIM:619377
Sturge-Weber Syndrome	Hyperostosis, Hydrocephalus, Heterochromia iridis, Macrocephaly	ORPHA:3205
Functioning Gonadotropic Adenoma	Osteopenia, Hydrocephalus, Osteoporosis, Abnormality of secondary sexual hair	ORPHA:91348
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hydrocephalus, Talipes equinovarus, Overlapping fingers	OMIM:617053
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly, Hypertelorism	OMIM:614195
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Coarse facial features, Thick hair, Joint stiffness, Hydroce...	ORPHA:505248
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Retrognathia	ORPHA:2736
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Cerebral Visual Impairment	Hydrocephalus, Microcephaly	ORPHA:447788
Whipple Disease	Arthritis, Hydrocephalus, Generalized hyperpigmentation, Proptosis	ORPHA:3452
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly, Absent thumb, Bilateral radial aplasia	OMIM:300514
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Wide nose, Communicating hydrocephalus	ORPHA:2184
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microcephaly, Hydrocephalus, Congenital contracture, Ventriculomegaly	OMIM:613150
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Progressive macrocephaly, Increased head circumference, Subependymal...	ORPHA:25
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Epistaxis, Abnormal dental enamel morphology, Ocular ...	ORPHA:79430
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Small hand, Osteoporosis, Short foot, Hip dysplasia, Abnorm...	ORPHA:177904
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Flexion contracture, Pigmentary retinopathy, Lateral ventricle d...	OMIM:613154
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:219730
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Prominent nasal bridge, Underdeveloped nas...	ORPHA:163746
Thakker-Donnai Syndrome	Communicating hydrocephalus, Anteverted nares, Hypertelorism, Bulbous nose, Cervical C2/C3 verteb...	ORPHA:1780
Pentalogy Of Cantrell	Encephalocele, Abnormal tibia morphology, Split hand, Hydrocephalus, Anencephaly, Aplasia/Hypopla...	ORPHA:1335
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Myelomeningocele, Hydrocephalus, Spina bifida occulta	OMIM:613686
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Micrognathia, Microcephaly, Hydrocephalus, Malar flattening, Short nasal bridge, Midface retrusio...	OMIM:253280
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Hypertelorism, Carious t...	OMIM:149730
Meckel Syndrome, Type 6	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot p...	OMIM:612284
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Hypertelorism, Wide nasal bridge, Uncombable hair, Woolly...	ORPHA:84064
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Anosmia, Chronic rhinitis, ...	OMIM:244400
Grange Syndrome	Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac...	OMIM:602531
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Pgm3-Cdg	Osteomyelitis, Allergic rhinitis, Abnormal facial shape, Chronic sinusitis, Brachydactyly	ORPHA:443811
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Noncommunicating hydrocephalus, ...	OMIM:618699
Tetraamelia Syndrome 1	Choanal atresia, Micrognathia, Hydrocephalus, Single naris, Hypoplastic pelvis	OMIM:273395
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Nail dysplasia, Proximal placement of thumb	ORPHA:139471
Cowden Syndrome	Bone cyst, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratoderma, Macrocephaly,...	ORPHA:201
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Long face, Pigmentary retinopathy, Hydrocephalus, Microcephaly	OMIM:277400
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Abnormal occipital bone morphology, Hydrocephalu...	ORPHA:2356
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Microcephaly	ORPHA:395
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Craniopharyngioma	Abnormal frontal bone morphology, Hydrocephalus, Abnormal nasal bone morphology, Increased suscep...	ORPHA:54595
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Micrognathia, Bulbous nose, 2-3 toe syndactyly, Talipes equinovarus, Clinodact...	OMIM:620025
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Numerous pigmented freckles, Hydrocephalus, Microcephaly	ORPHA:220295
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Increased head circumferenc...	ORPHA:268810
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Fraser Syndrome	Finger syndactyly, Cleft ala nasi, Depressed nasal bridge, Toe syndactyly, Abnormal hair pattern,...	ORPHA:2052
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Hypertelorism, Hypoplastic toenails, Aqueductal sten...	OMIM:306955
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Weill-Marchesani Syndrome 4	Joint stiffness, Brachydactyly	OMIM:613195
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Anteverted nares, Depressed nasal bridge, Hypertelorism, Recurrent upper respiratory tract infect...	ORPHA:293987
Medulloblastoma	Hydrocephalus, Progressive macrocephaly	ORPHA:616
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism, Abnormal facial shape	ORPHA:91411
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Flexion contracture, Holoprosencephaly	OMIM:253800
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Microcephaly, Hydrocephalus, Pigmentary retinopathy, Abnormal facial shape, Long face	ORPHA:79282
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ...	ORPHA:355
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Arachnoiditis	Hydrocephalus	ORPHA:137817
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Syndactyly, Frontal bossing, Round face, Anteverted nares, Depressed nasal bridge, Po...	OMIM:619534
Linear Skin Defects With Multiple Congenital Anomalies 1	Single transverse palmar crease, Microcephaly, Hydrocephalus, Pigmentary retinopathy, Colpocephaly	OMIM:309801
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly	ORPHA:77298
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Dextrocardia	Hydrocephalus, Congenital hip dislocation	ORPHA:1666
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Flexion contracture, Calcaneovalgus deformity, Deeply set eye, Abnormal fa...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Flexion contracture, Calcaneovalgus deformity, Deeply set eye, Abnormal fa...	ORPHA:261552
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Hydrocephalus, Brachycephaly, Ventriculomegaly	ORPHA:2072
Mowat-Wilson Syndrome	Mandibular prognathia, Flexion contracture, Calcaneovalgus deformity, Deeply set eye, Broad colum...	ORPHA:2152
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Fraser Syndrome 2	Wide nose, Low anterior hairline, Cutaneous syndactyly, Underdeveloped nasal alae	OMIM:617666
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius	ORPHA:887
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Hypopla...	OMIM:192350
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Craniofacial Microsomia 1	Occipital encephalocele, Block vertebrae, Hemifacial hypoplasia, Micrognathia, Hypoplasia of the ...	OMIM:164210
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Cryptococcosis	Hydrocephalus, Osteomyelitis, Osteolysis	ORPHA:1546
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Brittle hair	OMIM:616084
Split Cord Malformation	Tufted hairs, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Menin...	ORPHA:573278
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Meningioma	Hydrocephalus, Proptosis, Abnormality of the sense of smell	ORPHA:2495
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Epistaxis	ORPHA:137667
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Talipes equinovarus	OMIM:217100
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus, Hyperpigmentation of the skin	ORPHA:637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Pituitary Deficiency Due To Rathke Cleft Cysts	Abnormality of the sphenoid sinus, Hydrocephalus	ORPHA:91350
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Lymphangioleiomyomatosis	Abnormality of skin pigmentation, Ungual fibroma, Hydrocephalus	ORPHA:538
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Histiocytoid Cardiomyopathy	Hydrocephalus	ORPHA:137675
Oeis Complex	Talipes equinovarus, Myelomeningocele, Congenital hip dislocation, Hydrocephalus	OMIM:258040
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Agenesis of maxillary latera...	OMIM:309800
Tuberous Sclerosis Complex	Ungual fibroma, Hypomelanotic macule, Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida, Microcephaly	ORPHA:322
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780

Histopathology

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

There is no histopathology data for B3glct

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to B3glct.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Hydrocephalus in mouse B3glct mutants is likely caused by defects in multiple B3GLCT substrates in ependymal cells and subcommissural organ.	Glycobiology (September 2021)	B3glct^{tm1b(KOMP)Wtsi}	PMC8579228
ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.	Human molecular genetics (December 2019)	B3glct^{tm1c(KOMP)Wtsi} B3glct^{tm1d(KOMP)Wtsi} B3glct^{tm1b(KOMP)Wtsi}	31600785

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
B3glct^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
B3glct^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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