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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 (1540 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		Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Round face, Short metaca...	OMIM:261540
Peters Plus Syndrome		Round face, Microcephaly, Ventriculomegaly, Rhizomelia, Hydrocephalus, Long face, Anteverted nare...	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	Clinodactyly of the 5th finger, Anteverted nares, Frontal bossing, Broad nasal tip, Malar flatten...	ORPHA:85326
Delayed Membranous Cranial Ossification	Prominent occiput, Decreased skull ossification, Depressed nasal ridge, Frontal bossing, Hypertel...	ORPHA:3034
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi...	OMIM:113100
Achard Syndrome	Brachycephaly, Broad skull, Arachnodactyly, Micrognathia, Joint hypermobility	OMIM:100700
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Micrognathia, Macrocephaly, Hypertelorism	OMIM:611913
Microcephaly 4, Primary, Autosomal Recessive	Low hanging columella, Synophrys, Micrognathia, Thick eyebrow, Hypertelorism	OMIM:604321
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Frontal bossing, Micrognathia, Dolichocephaly, Orbital ...	ORPHA:1538
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Macrocephaly, Reduced proximal interphalangeal joint space, Short distal ph...	ORPHA:3246
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Synophrys, Microcephaly, Frontal bossing, Micrognathia, Adducted thumb, Ventriculomegaly, Hyperte...	ORPHA:3207
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Familial Scaphocephaly Syndrome, Mcgillivray Type	Macrocephaly, Mandibular prognathia, Trigonocephaly, Dolichocephaly, Toe syndactyly, Broad hallux...	ORPHA:168624
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	High anterior hairline, Macrocephaly, Clinodactyly of the 5th finger, Thick nasal alae, Broad nas...	OMIM:618147
Intellectual Developmental Disorder, Autosomal Recessive 74	Macrocephaly, Long face, Mandibular prognathia, Relative macrocephaly, Dolichocephaly, Brachydact...	OMIM:617169
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Abnormal nasal base norphology, Microcephal...	ORPHA:1919
Developmental And Epileptic Encephalopathy 36	Macrocephaly, Hydrocephalus, Anteverted nares, Microcephaly, Flexion contracture, Microretrognath...	OMIM:300884
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Muenke Syndrome	Brachycephaly, Plagiocephaly, Capitate-hamate fusion, Radial deviation of finger, Macrocephaly, C...	OMIM:602849
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Macrocephaly, Hydrocephalus, Postaxial hand polydactyly, Syndactyly, Ventriculomegaly	OMIM:615938
Codas Syndrome	Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Anteverted nares, Delayed os...	OMIM:600373
Weill-Marchesani Syndrome 1	Brachycephaly, Broad phalanges of the hand, Broad skull, Broad metatarsal, Broad metacarpals, Hyp...	OMIM:277600
Temtamy Syndrome	Convex nasal ridge, Macrocephaly, Clinodactyly of the 5th finger, Long face, Micrognathia, Dolich...	ORPHA:1777
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Abnormal hair quantity, Wide anterior ...	ORPHA:3098
Greig Cephalopolysyndactyly Syndrome	Macrocephaly, Finger syndactyly, Hydrocephalus, Postaxial hand polydactyly, Broad thumb, Frontal ...	ORPHA:380
Summitt Syndrome	Plagiocephaly, Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Macrocephaly, W...	ORPHA:3210
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachycephaly, Abnormal thumb morphology, Bilateral single transverse palmar creases, Abnormal zy...	ORPHA:2511
Craniofrontonasal Dysplasia	Sandal gap, Low posterior hairline, Microcephaly, Joint hypermobility, Craniosynostosis, Widow's ...	ORPHA:1520
Sclerosteosis 2	Nail dysplasia, Short finger, Macrocephaly, Mandibular prognathia, Frontal bossing, Cutaneous fin...	OMIM:614305
Greig Cephalopolysyndactyly Syndrome	Nail dysplasia, Trigonocephaly, Broad thumb, Syndactyly, Craniosynostosis, Ventriculomegaly, Abno...	OMIM:175700
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Jo...	ORPHA:1515
Keipert Syndrome	Broad distal phalanx of finger, Macrocephaly, Wide nose, Camptodactyly, Prominent nose, Absent to...	OMIM:301026
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Frontal bossing, Micrognathia, Dolic...	ORPHA:1516
Cornelia De Lange Syndrome 2	Brachycephaly, Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Anteve...	OMIM:300590
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Macrocephaly, Highly arched eyebrow, Abnormal facial shape, Frontal bossing, Micro...	OMIM:600325
Achondroplasia	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Trident hand, Short nasal br...	ORPHA:15
Multiple Synostoses Syndrome	Bilateral single transverse palmar creases, Abnormality of the nail, Broad thumb, Short palm, Joi...	ORPHA:3237
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Brachydactyly, Type A1	Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,...	OMIM:112500
Polydactyly, Postaxial, Type A1	Nail dysplasia, Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped m...	OMIM:174200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Short nose, Hydrocephalus, Anteverted nares, Proptosis, Long eyelas...	OMIM:618577
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Weill-Marchesani Syndrome 2	Brachycephaly, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Monosomy 5P	Finger syndactyly, Abnormality of bone mineral density, Round face, Microretrognathia, Joint hype...	ORPHA:281
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,...	OMIM:211369
Brachydactyly-Preaxial Hallux Varus Syndrome	Radial club hand, Short metatarsal, Short metacarpal, Synophrys, Broad thumb, Frontal bossing, Ab...	ORPHA:1278
Gombo Syndrome	Microcephaly, Radial deviation of finger, Clinodactyly, Brachydactyly	OMIM:233270
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Hydrocephalus, Hyperextensibility of the finger joints, 2-3 toe syndactyly, P...	ORPHA:163979
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Hallux valgus, Single transverse palmar crease...	OMIM:615314
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly, Macrocephaly, Postaxial hand polydactyly	OMIM:615937
Hypochondroplasia	Limited elbow extension, Macrocephaly, Flared metaphysis, Short long bone, Trident hand, Frontal ...	OMIM:146000
Camptosynpolydactyly, Complex	Nail dysplasia, Polydactyly, Toenail dysplasia, Small nail, Camptodactyly, Syndactyly, Cutaneous ...	OMIM:607539
Chromosome 20Q11-Q12 Deletion Syndrome	Tarsal osteovalgus, Camptodactyly, Frontal bossing, Brachydactyly, Adducted thumb, Deeply set eye...	OMIM:614257
1Q21.1 Microduplication Syndrome	Macrocephaly, Hydrocephalus, Frontal bossing, Hip dysplasia, Arthrogryposis multiplex congenita, ...	ORPHA:250994
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of ...	OMIM:614078
Jawad Syndrome	Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing...	OMIM:251255
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac...	ORPHA:3314
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, Pr...	OMIM:619736
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Synophrys, Abnormal facial shape, Brachydactyly, Hypertelorism	OMIM:612001
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormal fing...	ORPHA:1406
Craniodigital-Intellectual Disability Syndrome	Brachycephaly, Short nose, Thick hair, Narrow nasal bridge, Finger syndactyly, Long eyelashes, Mi...	ORPHA:1514
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Macrocephaly, Sandal gap, Hydrocephalus, Abnormal dental enamel morphology, Mandibular prognathia...	ORPHA:2180
Ayme-Gripp Syndrome	Brachycephaly, Short nose, Nail dystrophy, Broad eyebrow, Flat face, Mandibular prognathia, Taper...	OMIM:601088
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy...	ORPHA:166016
Muenke Syndrome	Hypopigmented skin patches, Brachycephaly, Hypermelanotic macule, Plagiocephaly, Tarsal synostosi...	ORPHA:53271
Brachydactyly, Type A3	Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi...	OMIM:112700
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Clinodactyly of the 5th finger, Broad eyebrow, Sandal gap, Long nasal bridge, Slender finger, Mic...	OMIM:617755
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Single transverse palmar crease, Mandibular prognathia, 2-3 toe syndactyly, Sparse sc...	ORPHA:2324
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Broad jaw, Increased bone mineral density, Craniosynostosis, Thickened calvaria, H...	ORPHA:178377
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Metacarpal synostosis, Proptosis, Brachydactyly, Hypertelorism	ORPHA:35099
20Q11.2 Microdeletion Syndrome	Camptodactyly, Frontal bossing, Brachydactyly, Adducted thumb, Deeply set eye, Finger clinodactyl...	ORPHA:444051
Jackson-Weiss Syndrome	Abnormal fibula morphology, Turricephaly, Short metatarsal, Mandibular prognathia, 2-3 toe syndac...	ORPHA:1540
Crossed Polysyndactyly	Finger syndactyly, Postaxial hand polydactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the ...	ORPHA:2935
Holoprosencephaly 5	Semilobar holoprosencephaly, Hypotelorism, Alobar holoprosencephaly, Hydrocephalus, Anteverted na...	OMIM:609637
Waardenburg Syndrome, Type 3	Premature graying of hair, Hypopigmented skin patches, Mandibular prognathia, Scapular winging, H...	OMIM:148820
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Abnormal bone structure, Depressed nas...	OMIM:300244
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Micrognathia, Mesomelia, Brachydactyly, Convex nasal ridge	ORPHA:1277
Hall-Riggs Syndrome	Hypoplasia of the primary teeth, Anteverted nares, Osteoporosis, Microcephaly, Enamel hypoplasia,...	OMIM:234250
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Frontal bossing, Hypertelori...	ORPHA:166024
Tetrasomy X	Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Joint hypermobility, Hip dy...	ORPHA:9
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Macrocephaly, Short greater sciatic notch, Hydrocephalus, Wide an...	ORPHA:1860
20P13 Microdeletion Syndrome	Polydactyly, Macrocephaly, Small nail, Highly arched eyebrow, Wide anterior fontanel, Finger synd...	ORPHA:313781
Velo-Facial-Skeletal Syndrome	Abnormal thumb morphology, Clinodactyly of the 5th finger, Long face, Prominent fingertip pads, N...	ORPHA:3424
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Microcephaly, Frontal bossing, Brachydactyly, Short distal phalanx of finger, Joint...	ORPHA:2787
Megalencephaly, Autosomal Dominant	Hydrocephalus, Macrocephaly	OMIM:155350
Anauxetic Dysplasia 3	Retrognathia, High anterior hairline, Plagiocephaly, Hip subluxation, Broad eyebrow, Genu valgum,...	OMIM:618853
Cleidorhizomelic Syndrome	Diaphyseal undertubulation, Bilateral single transverse palmar creases, Clinodactyly of the 5th f...	ORPHA:1453
Familial Digital Arthropathy-Brachydactyly	Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of...	ORPHA:85169
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Genu valgum, Delayed pubic bone ossification, Proximal placement of thumb, Macrocephaly, Talipes ...	OMIM:613330
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop...	ORPHA:950
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Hypoplastic thumbnail, Osseous finger syndactyly, Triangular sha...	ORPHA:370010
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Thick hair, Delayed eruption of teeth, Slow-growing hair, Abnorma...	ORPHA:2107
Craniodiaphyseal Dysplasia, Autosomal Dominant	Macrocephaly, Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sc...	OMIM:122860
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Clov...	OMIM:101600
Camptodactyly Syndrome, Guadalajara Type 1	Highly arched eyebrow, Microcephaly, Short distal phalanx of finger, Long face, Anteverted nares,...	ORPHA:1327
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia, Highly arched eyebrow, Anteverted nares, Round face, Synophrys, Hypertelorism, Thic...	OMIM:615979
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Proptosis, Dolichocephaly, Abnormal nasal morphology, Brachydactyly	ORPHA:3303
Weaver Syndrome	Abnormal metaphysis morphology, Retrognathia, Thin nail, Sandal gap, Finger syndactyly, Round fac...	ORPHA:3447
Digital Arthropathy-Brachydactyly, Familial	Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha...	OMIM:606835
Coloboma Of Macula-Brachydactyly Type B Syndrome	Absent fingernail, Broad thumb, Short distal phalanx of finger, Camptodactyly of finger, Fingerna...	ORPHA:1471
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Highly arched eyebrow, Radial deviation of the 2nd finger, Campto...	ORPHA:1388
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:184260
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Mandibular prognathia, Frontal bossing, Broad hallux, Short thumb, Brachydact...	OMIM:165800
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Turricephaly, Short middle phalanx of the 5th finger, Prominent nose, Carious teeth, Cutaneous fi...	OMIM:203550
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi...	OMIM:272150
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam...	ORPHA:88630
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Turricephaly, Abnormal metacarpal morphology, Hydrocephalus, Proptosis, Choanal at...	ORPHA:93262
Feingold Syndrome Type 2	Abnormal facial shape, Microcephaly, Short middle phalanx of finger, Short thumb, Brachydactyly, ...	ORPHA:391646
Sclerosteosis	Abnormality of the nose, Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofac...	ORPHA:3152
Acrocephalopolydactyly	Short nose, Short long bone, Depressed nasal ridge, Limb undergrowth, Brachydactyly, Hyperteloris...	ORPHA:221054
Acromicric Dysplasia	Short nose, Abnormal femur morphology, Anteverted nares, Round face, Short metacarpal, Long eyela...	ORPHA:969
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Intellectual Developmental Disorder, Autosomal Recessive 33	Abnormal facial shape, Short toe, Syndactyly	OMIM:614341
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Hypoplastic pelvis, Joint stiffness, Metaphyseal irregular...	ORPHA:750
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Genu valgum, Macrocephaly, Hydrocephalus, Mandibular prognathia, Dolichocephaly, Coarse facial fe...	OMIM:248000
Cleidocranial Dysplasia	Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morph...	ORPHA:1452
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t...	OMIM:609052
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, 2-3 toe cutaneous syndactyly, Small nail, Sparse scalp hair, Patchy alopecia, 4-5 to...	OMIM:613573
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ...	ORPHA:1426
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th...	ORPHA:2370
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Craniofacial-Deafness-Hand Syndrome	Short nose, Abnormality of the wrist, Depressed nasal ridge, Narrow face, Hypoplasia of the maxil...	ORPHA:1529
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Macrocephaly, Hydrocephalus, Abnormal facial shape, Microcephaly, Ventriculomegaly	OMIM:618709
Edinburgh Malformation Syndrome	Short nose, Hydrocephalus, Anteverted nares, Hirsutism, Choanal atresia, Low posterior hairline, ...	ORPHA:1895
Frontonasal Dysplasia 1	Joint contracture of the hand, Short columella, Radial deviation of finger, Pectoral muscle hypop...	OMIM:136760
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches, Abnormal thumb morphology, Abnormality of the wrist, Proximal placeme...	ORPHA:1825
Cutis Laxa, Autosomal Recessive, Type Iie	Convex nasal ridge, Copper beaten skull, Clinodactyly of the 5th finger, Deep palmar crease, High...	OMIM:619451
Gómez-López-Hernández Syndrome	Brachycephaly, Alopecia of scalp, Turricephaly, Toenail dysplasia, Hydrocephalus, Anteverted nare...	ORPHA:1532
14Q11.2 Microdeletion Syndrome	Short nose, Highly arched eyebrow, Sparse lateral eyebrow, Toe clinodactyly, Micrognathia, Melano...	ORPHA:261120
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Triangular face, Abnormal metacarpal morphology, Curly eyelashes,...	ORPHA:3051
Arthrogryposis, Distal, Type 2B2	Triangular face, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Clinodactyly, Sh...	OMIM:618435
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Joint hypermobility, Cone-shaped epiphysis, Broad face, Bilat...	ORPHA:439822
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly, Retrognathia, Narrow greater sciatic notch, Wide anterior fontanel, Short long bon...	OMIM:263210
Rubinstein-Taybi Syndrome 2	Retrognathia, Short 5th toe, Short first metatarsal, Low hanging columella, Highly arched eyebrow...	OMIM:613684
Chromosome 15Q26-Qter Deletion Syndrome	Triangular face, Microcephaly, Micrognathia, Short middle phalanx of finger, Brachydactyly, Wide ...	OMIM:612626
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S...	OMIM:185900
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Tiger tail banding, Sparse eyebrow, Sparse hair, Brachydactyly, Joint hypermobili...	OMIM:619692
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormal hair morphol...	OMIM:250460
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Joint stiffness, Frontal bossing, Dolichocephaly, Brachydactyly, Joint ...	ORPHA:40
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Genu valgum, Macrocephaly, Abnormal metacarpal morphology, Genera...	ORPHA:53
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the hume...	ORPHA:1275
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Red hair, Short metatarsal, Anteverted nares, Mandibular prognathia, Round face, Shor...	OMIM:614613
Intellectual Disability, Wolff Type	Clinodactyly of the 5th finger, Abnormality of the nail, Limitation of joint mobility, Low poster...	ORPHA:3080
Desbuquois Dysplasia 1	Sandal gap, Round face, Flat acetabular roof, Proptosis, Broad femoral neck, Bifid distal phalanx...	OMIM:251450
Emery-Nelson Syndrome	Abnormal thumb morphology, Metacarpophalangeal joint contracture, Low posterior hairline, Camptod...	ORPHA:1927
Larsen-Like Syndrome	Brachycephaly, Macrocephaly, Clinodactyly of the 5th finger, Wide anterior fontanel, Radial devia...	OMIM:608545
Adams-Oliver Syndrome 2	Macrocephaly, Small nail, Hydrocephalus, Single transverse palmar crease, Absent distal phalanges...	OMIM:614219
Symphalangism, Distal	Distal symphalangism of hands, Small nail, Absent dorsal skin creases over affected joints, Anony...	OMIM:185700
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Short nose, Convex nasal ridge, Turricephaly, Finger syndactyly, Split hand, Micro...	ORPHA:2145
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Hypotelorism, Long face, Anteverted nares, Single transverse palmar crease, Camptodac...	OMIM:613604
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Small nail, Short metacarpal, Hypoplastic pelvis, Microcephaly, Sparse hair, Shor...	OMIM:614813
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	High anterior hairline, Macrocephaly, Single transverse palmar crease, Notched primary central in...	OMIM:620062
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Macrocephaly, Abnormal ilium morphology, Hydrocephalus, Cloverlea...	ORPHA:2655
Intellectual Developmental Disorder, Autosomal Recessive 41	Retrognathia, Macrocephaly, Clinodactyly of the 5th finger, Mandibular prognathia, Prominent fing...	OMIM:615637
Odontotrichoungual-Digital-Palmar Syndrome	Nail dysplasia, Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormal...	OMIM:601957
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Short nose, Turricephaly, Hydrocephalus, Anteverted nares, Bowing of the long bone...	ORPHA:171839
Acrofrontofacionasal Dysostosis 2	Brachycephaly, Wide nose, Wide anterior fontanel, Proptosis, Broad thumb, Hand polydactyly, Broad...	OMIM:239710
Robinow Syndrome, Autosomal Recessive 2	Short nose, Sandal gap, Anteverted nares, Prominent fingertip pads, Relative macrocephaly, Propto...	OMIM:618529
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Talo...	OMIM:605282
Tonne-Kalscheuer Syndrome	Hypotelorism, Small nail, Narrow face, Broad thumb, Microcephaly, Micrognathia, Prominent nose, P...	OMIM:300978
Chondrodysplasia Punctata, Autosomal Dominant	Talipes equinovarus, Epiphyseal stippling, Frontal bossing, Hip contracture, Sparse hair, Knee fl...	OMIM:118650
Pentasomy X	Plagiocephaly, Clinodactyly of the 5th finger, Microcephaly, Radioulnar synostosis, Micrognathia,...	ORPHA:11
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Hydrocephalus, Dandy-Walker malformati...	ORPHA:459061
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Macrocephaly, Encephalocele, Hydrocephalus, Cloverleaf skull, Lim...	ORPHA:93274
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Hydrocephalus, Proptosis, Choanal atresia, Melanocytic nevus, Craniosynostosis, Hy...	OMIM:612247
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Macrocephaly, Limitation of joint mobility	ORPHA:99966
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Macrocephaly, Hydrocephalus, Proptosis, Hypoplasia of the maxilla, Malar flattenin...	OMIM:109120
Dysostosis, Stanescu Type	Brachycephaly, Abnormal metaphysis morphology, Narrow nasal bridge, Increased bone mineral densit...	ORPHA:1798
Potocki-Shaffer Syndrome	Brachycephaly, Short nose, Turricephaly, Parietal foramina, Single transverse palmar crease, Spar...	OMIM:601224
Pfeiffer Syndrome Type 1	Brachycephaly, Short nose, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, F...	ORPHA:93258
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Malar flattening, Deeply set eye, Hyperte...	OMIM:615984
Dandy-Walker Malformation With Postaxial Polydactyly	Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly, Dilated fourt...	OMIM:220220
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, Wide anterior fontanel, Single transverse palmar crease,...	OMIM:201170
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Aplasia of the mi...	OMIM:112800
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Hydrocephalus, Wide...	OMIM:207410
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t...	OMIM:190351
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Round face, Flat acetabular roof, Limited knee extension, Joint h...	OMIM:618870
Pfeiffer Syndrome	Turricephaly, Clinodactyly of the 5th finger, Finger syndactyly, Mandibular prognathia, Synostosi...	ORPHA:710
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Macrocephaly, Hydrocephalus, Postaxial hand polydactyly, Abnormal nasal morphology, Hypertelorism...	ORPHA:83473
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Deformed humeral heads, Sh...	ORPHA:2831
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Aplastic/hypoplastic toenail, Tibial bow...	ORPHA:240
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Single transverse palmar crease, Microcephaly, Carious teeth, Micrognathia,...	OMIM:101805
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Hypopigmentation of hair, Anteverted nares, Round face, Depressed nasal ridge, Genera...	ORPHA:1355
Brachydactyly Type E	Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Macrocephaly, Short...	ORPHA:93387
Imagawa-Matsumoto Syndrome	Macrocephaly, Mandibular prognathia, Round face, Camptodactyly, Large hands, Wide nasal ridge, Me...	OMIM:618786
Otopalatodigital Syndrome Type 1	Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor...	ORPHA:90650
Kleeblattschaedel	Hydrocephalus, Cloverleaf skull, Proptosis, Elbow ankylosis, Craniosynostosis	OMIM:148800
Wolf-Hirschhorn Syndrome	Hyperconvex fingernails, Highly arched eyebrow, Proptosis, Low posterior hairline, Microcephaly, ...	OMIM:194190
Bent Bone Dysplasia Syndrome 1	Hypoplastic pubic bone, Short clavicles, Hirsutism, Coronal craniosynostosis, Decreased calvarial...	OMIM:614592
Craniometaphyseal Dysplasia, Autosomal Recessive	Macrocephaly, Flared metaphysis, Bony paranasal bossing, Mandibular prognathia, Nasal congestion,...	OMIM:218400
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Hirsutism, Thick nasal alae, Synophrys, Abnormal facial shape,...	ORPHA:357175
Cornelia De Lange Syndrome 5	Retrognathia, Proximal placement of thumb, Highly arched eyebrow, Microcephaly, Ventriculomegaly,...	OMIM:300882
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of the nose, Retrognathia, Clinodactyly of the 5th finger, Heterochromia iridis, Syno...	ORPHA:1390
Houge-Janssens Syndrome 2	Plagiocephaly, Hydrocephalus, Anteverted nares, Postaxial polydactyly, Microcephaly, Broad hallux...	OMIM:616362
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Split foot, Micrognathia, Malar flattening, Toe syndactyly	OMIM:183700
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hypoplastic toenails, Short nose, Hydrocephalus, Anteverted nares, Sparse scalp hair, Low posteri...	ORPHA:2701
Brachydactyly, Type D	Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux	OMIM:113200
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Clinodactyly of the 5th finger, Abnormality of the elbow, Finger syndactyly, Abnorm...	ORPHA:1005
Craniometaphyseal Dysplasia, Autosomal Dominant	Cranial hyperostosis, Macrocephaly, Calvarial osteosclerosis, Flared metaphysis, Bony paranasal b...	OMIM:123000
Keipert Syndrome	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Macrocephaly, Aplastic/hypoplasti...	ORPHA:2662
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Macrocephaly, Rhizomelia, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of ...	OMIM:300863
Brachydactyly, Type A1, B	Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact...	OMIM:607004
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Hypotelorism, Prominent occiput, An...	OMIM:618672
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Wide nose, Anteverted nares, Frontal bossing, Hypoplasia of the z...	ORPHA:3074
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Finger syndactyly, Limitation of joint mobility, Trigonocephaly, Frontal bos...	ORPHA:2994
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Highly arched eyebrow, Man...	ORPHA:94066
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Macrocephaly, Abnormality of the elbow...	ORPHA:429
Filippi Syndrome	Finger clinodactyly, Low hanging columella, Single transverse palmar crease, Serrated incisors, U...	OMIM:272440
Prieto Syndrome	Retrognathia, Radial deviation of finger, Talipes equinovarus, Osteoporosis, Prominent nose, Hype...	OMIM:309610
Cole-Carpenter Syndrome 2	Osteopenia, Turricephaly, Triangular face, Lambdoidal craniosynostosis, Macrocephaly, Hydrocephal...	OMIM:616294
Microcephalic Primordial Dwarfism, Toriello Type	Microcephaly, Enamel hypoplasia, Brachydactyly, Abnormal epiphysis morphology, Ventriculomegaly	ORPHA:2643
Coffin-Siris Syndrome 2	Sandal gap, Small nail, Delayed eruption of teeth, Anteverted nares, Wide nose, Hirsutism, Dandy-...	OMIM:614607
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Proximal placement of thumb, Talipes equinovarus, Anteverted nares, Proptosis, Sparse...	OMIM:615789
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Synophrys, Thick eyebrow, Radioulnar synostosi...	ORPHA:3268
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Rhizomelia, Mandibular prognathia, Relative macrocephaly, Broa...	OMIM:612813
Non-Distal Duplication 10Q	Brachycephaly, Short nose, Frontal bossing, Micrognathia, Joint hypermobility, Convex nasal ridge...	ORPHA:1695
Alopecia-Intellectual Disability Syndrome	Split hand, Sparse scalp hair, Microcephaly, Sparse body hair, Abnormal nasal morphology, Flexion...	ORPHA:2850
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Hydrocephalus, Arthritis, CSF lymp...	ORPHA:228123
Al-Raqad Syndrome	Short nose, Sandal gap, Hypopigmentation of the skin, Microcephaly, Brachydactyly, Flat face, Joi...	OMIM:616459
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Highly arched eyebrow, Microcephaly, Syndactyly, Enamel agenesis, Ventriculomegaly, Anteverted na...	OMIM:614701
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Abnormality of the nail, Hyperextensibility of the finger joints, Anteverted nares,...	OMIM:313420
Mosaic Trisomy 20	Retrognathia, Fused cervical vertebrae, Hypopigmented streaks, Limited pronation/supination of fo...	ORPHA:1724
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Short nose, Abnormal bone ossification, Abnormal femoral neck/head morphology, Abn...	ORPHA:163649
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Osteoporosis, Bilateral talipes equinovarus, Prominent nose, Finger clinodactyly, H...	ORPHA:2958
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Masa Syndrome	Macrocephaly, Hydrocephalus, Microcephaly, Adducted thumb, Ventriculomegaly, Talipes equinovarus	OMIM:303350
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Short distal phalanx of toe, Microcephaly, Symphalangism affecting the phalanges of the hand, Bip...	ORPHA:1292
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Short nose, Highly arched eyebrow, Microcephaly, Camp...	ORPHA:2083
Brachydactyly Type C	Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud...	ORPHA:93384
Tetrasomy 5P	Short nose, Macrocephaly, Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Wide anter...	ORPHA:3309
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Encephalocele, Hydrocephalus, Round face, Hirsutism, Short long bon...	OMIM:224400
Intellectual Developmental Disorder, Autosomal Recessive 68	Broad eyebrow, Hydrocephalus, Synophrys, Hypoplasia of the maxilla, Microcephaly, Wide nasal bridge	OMIM:618302
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha...	ORPHA:189
Otopalatodigital Syndrome, Type I	Nail dysplasia, Nail dystrophy, Broad distal phalanx of finger, Sandal gap, Prominent occiput, Di...	OMIM:311300
Lujan-Fryns Syndrome	Brachycephaly, Macrocephaly, Narrow face, Hypoplasia of the maxilla, Arachnodactyly, Micrognathia...	ORPHA:776
Anauxetic Dysplasia 2	Nail dysplasia, Cubitus valgus, Small nail, Relative macrocephaly, Hypoplasia of the femoral head...	OMIM:617396
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Progressive macrocephaly, Hydrocephalus, Syndactyly, Joint hypermobility, Ventriculo...	OMIM:602501
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Abnormal eyebrow morphology, Mesomelia, Abnormality o...	ORPHA:2496
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hyperpigmentation of ...	ORPHA:444002
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Hirsutism, Thick nasal alae, Synophrys, Micrognathia, Hypertel...	OMIM:615162
Pallister-Hall-Like Syndrome	Short nose, Occipital encephalocele, Macrocephaly, Hydrocephalus, Postaxial hand polydactyly, Mic...	OMIM:241800
Intellectual Developmental Disorder, Autosomal Dominant 70	Retrognathia, Postnatal macrocephaly, Low hanging columella, Highly arched eyebrow, Long face, Ma...	OMIM:620157
Crouzon Syndrome	Hypopigmented skin patches, Brachycephaly, Turricephaly, Hydrocephalus, Proptosis, Choanal atresi...	ORPHA:207
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Supernumerary tooth, Genu valgum, Cone-shaped epiphys...	ORPHA:502
Pelviscapular Dysplasia	Macrocephaly, Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplasti...	ORPHA:93333
Frank-Ter Haar Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Delayed eruption of teeth, Mandib...	ORPHA:137834
Sponastrime Dysplasia	Short long bone, Relative macrocephaly, Aplasia of the nasal bone, Mesomelia, Metaphyseal irregul...	ORPHA:93357
Roifman Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Narrow nasal bridge, ...	ORPHA:353298
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypopigmented skin patches, Short nose, Abnormal nostril morphology, Genu valgum, Abnormal metaca...	ORPHA:1295
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Hypopigmented skin patches, Palmoplantar keratoderma, Triphalangeal thumb, Hyperpigmentation of t...	ORPHA:2251
Trisomy 9P	Brachycephaly, Bilateral single transverse palmar creases, Hypoplastic fingernail, Clinodactyly o...	ORPHA:236
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Joint stiffness, Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly	ORPHA:1078
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Absent fingernail...	OMIM:609638
Metatropic Dysplasia	Narrow greater sciatic notch, Flat acetabular roof, Long coccyx, Flared iliac wing, Flared humera...	OMIM:156530
Frontal Encephalocele	Macrocephaly, Encephalocele, Hydrocephalus, Spina bifida, Dolichocephaly, Calvarial skull defect,...	ORPHA:1931
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Small nail, Finger syndactyly, Mandi...	ORPHA:1908
Eem Syndrome	Finger syndactyly, Sparse scalp hair, Ectrodactyly, Absent eyebrow, Carious teeth, Sparse body ha...	ORPHA:1897
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly, Secondary microcephaly, Clinodactyly of the 5th finger, Clinodactyly of the 2nd fi...	OMIM:620073
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Clubbing of fingers, Hypoplastic pubic bone, Hydrocephalus, Hirsutism, Short long ...	ORPHA:1865
2q37 monosomy	Deeply set eye, Round face, Brachydactyly	DECIPHER:44
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Metacarpal synostosis, Finger syndactyly, 2-3 toe s...	ORPHA:157801
Eiken Syndrome	Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Hydrocephalus, Single transverse palmar crease, 2-3 toe synda...	OMIM:617866
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Tibial bowing, Proptosis, Short metacarpal, Abnormally ossified vertebrae, Dumbbell-s...	ORPHA:1427
Multiple Epiphyseal Dysplasia Type 4	Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol...	ORPHA:93307
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hypermelanotic macule, Macrocephaly, Joint hypermobility, Finger syndactyly, Hydrocephalus, Foot ...	ORPHA:60040
15Q11Q13 Microduplication Syndrome	Joint hypermobility, Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:238446
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Abnormality of the nail, Mandibular prognathia, Relative macrocephaly, Broad thumb, M...	ORPHA:171866
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Highly arched...	OMIM:619135
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Proptosis, Short metacarpal, P...	ORPHA:457395
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Sparse scalp hair, Camptodactyly, Sparse eyelashes, 3-4 toe sy...	OMIM:225280
Acrocallosal Syndrome	Macrocephaly, Triphalangeal thumb, Prominent occiput, Wide anterior fontanel, Dandy-Walker malfor...	ORPHA:36
Spinocerebellar Ataxia, Autosomal Recessive 20	Wide nasal base, Talipes equinovarus, Delayed eruption of teeth, Broad face, Anteverted nares, Re...	OMIM:616354
Temple Syndrome	Wide nose, Hydrocephalus, Anteverted nares, Relative macrocephaly, Short foot, Frontal bossing, M...	OMIM:616222
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Hypoplastic iliac wing, Tibial bowing, Microcephaly, Short distal phalanx of finger...	OMIM:210720
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Short nose, Medial flaring of the eyebrow, Hammertoe, Hydrocephalus, Long face, Lo...	OMIM:619833
Intellectual Developmental Disorder, Autosomal Recessive 61	Secondary microcephaly, Thick hair, Highly arched eyebrow, Long face, Mandibular prognathia, Prom...	OMIM:617773
Vitamin K Antagonist Embryofetopathy	Short nose, Epiphyseal stippling, Hydrocephalus, Anteverted nares, Proptosis, Choanal atresia, My...	ORPHA:1914
Temple-Baraitser Syndrome	Aplastic/hypoplastic toenail, Broad thumb, Microcephaly, Short distal phalanx of finger, Hypoplas...	ORPHA:420561
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Macrocephaly, Squared iliac bones, Hypoplastic pubic ...	ORPHA:2746
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Long face, A...	OMIM:617201
Osteoglophonic Dysplasia	Eruption failure, Proptosis, Short metacarpal, Broad metatarsal, Shallow orbits, Broad thumb, Cra...	OMIM:166250
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Adducted thumb, Overlapping fingers, Macrocephaly, Short nose, Hypotelorism, Talip...	OMIM:617822
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Whistling Face Syndrome, Recessive Form	Knee flexion contracture, Talipes equinovarus, Shoulder flexion contracture, Elbow flexion contra...	OMIM:277720
Epiphyseal Dysplasia, Multiple, 4	Flat capital femoral epiphysis, Short metacarpal, Hypoplasia of the femoral head, Epiphyseal dysp...	OMIM:226900
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Patchy alopecia, Poliosis, Hemifacial atrophy, ...	OMIM:141300
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Proptosis, Shallow orbits, Aplasia of the nasal bone, Flexion contra...	OMIM:601812
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Peroxisome Biogenesis Disorder 12A (Zellweger)	Triangular face, Abnormal cortical bone morphology, Hydrocephalus, Wide anterior fontanel, Crania...	OMIM:614886
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Short metacarpal, Microcephaly, Prominent fro...	OMIM:170390
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Anteverted nares, Short long bone, Proptosis, Coarse metaphyseal trabecularization, M...	OMIM:618961
Cardiocranial Syndrome, Pfeiffer Type	Deep palmar crease, Plantar flexion contracture, Temporomandibular joint ankylosis, Slender finge...	ORPHA:2872
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Anteverted nares, Choanal atresia, Multiple unerupted tee...	ORPHA:2645
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Macrocephaly, Delayed eruption of teeth, Underdeveloped nasal alae, Synophrys, Thick eyebrow, Hyp...	ORPHA:2025
Craniosynostosis 2	Brachycephaly, Supernumerary tooth, Turricephaly, Triphalangeal thumb, Hypotelorism, Unicoronal s...	OMIM:604757
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Dela...	ORPHA:93346
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Short finger, Low hanging columella, 2-3 toe syndactyly, Tapered finger, Micrognathia, Long finge...	OMIM:618659
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:611808
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypermelanotic macule, Ankylosis of feet small joints, Thin metacarpal cortices, Proptosis, Wrist...	OMIM:259600
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Broad finger, Abnormal facial shape, Short phalanx of finger, Thick eyebrow, Brachydactyly, Small...	OMIM:614684
Moebius Syndrome	Radial deviation of finger, Talipes equinovarus, Abnormality of the nail, Split hand, Abnormal pe...	OMIM:157900
Trisomy 5P	Macrocephaly, Abnormal metacarpal morphology, Round face, Frontal bossing, Dolichocephaly, Ventri...	ORPHA:1742
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Thick hair, Synophrys, Horizontal eyebrow, Long eyelashes, Microg...	OMIM:618381
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Long nose, Cone-shaped epiphysis, Palmoplantar keratoderma, Sparse scalp hair, Arachnodactyly, Ab...	ORPHA:2824
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Melanocytic nevu...	ORPHA:1008
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Sandal gap, Microcephaly, Hirsutism, Hypertelorism, Bulbous nose, Depressed nasal b...	OMIM:617061
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Hypotelorism, Microcephaly, Short d...	ORPHA:2163
Temtamy Syndrome	Highly arched eyebrow, Long face, Short 2nd toe, Frontal bossing, Micrognathia, Hypoplasia of tee...	OMIM:218340
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Fibrochondrogenesis	Abnormal metaphysis morphology, Plagiocephaly, Hypoplastic fingernail, Abnormal diaphysis morphol...	ORPHA:2021
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Short nose, Macrocephaly, Calvarial osteosclerosis, D...	OMIM:616331
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Round ...	ORPHA:363417
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Macrocephaly, Small nail, Short metacarpal, Sparse eyelashes, Cafe-au-lai...	OMIM:250410
Chst3-Related Skeletal Dysplasia	Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Delayed eruption of teeth, Highly ...	ORPHA:263463
20P12.3 Microdeletion Syndrome	Macrocephaly, Hypoplasia of the maxilla, Broad thumb, Malar flattening, Broad hallux phalanx, Ven...	ORPHA:261295
Rubinstein-Taybi Syndrome	Convex nasal ridge, Clinodactyly of the 5th finger, Joint hypermobility, Highly arched eyebrow, F...	ORPHA:783
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Highly arched eyebrow, Round face, Short metacarpal, ...	ORPHA:1001
Cousin Syndrome	Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me...	OMIM:260660
2Q31.1 Microdeletion Syndrome	Sandal gap, Proptosis, Trigonocephaly, Microcephaly, Ventriculomegaly, Abnormal fibula morphology...	ORPHA:251014
Intellectual Developmental Disorder, X-Linked 30	Short nose, Hydrocephalus, Anteverted nares, Prominent fingertip pads, Microcephaly, Prominent na...	OMIM:300558
Robinow-Sorauf Syndrome	Plagiocephaly, Long nose, Shallow orbits, Broad thumb, Broad hallux, Malar flattening, Pansynosto...	OMIM:180750
Laurin-Sandrow Syndrome	Absent tibia, Fibular duplication, Absent radius, Tarsal synostosis, Abnormal metacarpal morpholo...	ORPHA:2378
Congenital Hydrocephalus	Macrocephaly, Hydrocephalus, Frontal bossing, Colpocephaly, Facial asymmetry, Ventriculomegaly, B...	ORPHA:2185
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Small nail, Progressive microcephaly, Extra-axial cerebrospinal fluid accu...	OMIM:614261
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Femoral bowing, Proptosis, Dumbbell-shaped long bone, Micromelia, Frontal bossing, Mi...	ORPHA:440354
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification,...	OMIM:618265
Trichorhinophalangeal Syndrome, Type I	Short metacarpal, Cone-shaped epiphyses of the proximal phalanges of the hand, Concave nail, Fine...	OMIM:190350
Diastrophic Dysplasia	Abnormal metaphysis morphology, Short finger, Macrocephaly, Proximal placement of thumb, Abnormal...	ORPHA:628
Acromicric Dysplasia	Anteverted nares, Short long bone, Round face, Short metacarpal, Short foot, Long eyelashes, Shor...	OMIM:102370
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro...	OMIM:212780
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of the wrist, Abnormal metacarpal...	ORPHA:1350
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Abnormal hair quantity, Distichiasis, Carious teeth, Hypertelorism	ORPHA:1997
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Patellar hypoplasia, Anteverted nares, Depressed nasal ridge, Short fourth metatars...	ORPHA:464288
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypotelorism, Abnormal hair morpho...	ORPHA:3082
15Q24 Microdeletion Syndrome	Abnormal thumb morphology, High anterior hairline, Wide nasal base, Proximal placement of thumb, ...	ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Sandal gap, Mandibular prognathia, Relative macrocephaly, Bulbous nose, Brachydactyly, Joint hype...	OMIM:300354
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Abnormal calvaria morphology, Finger syndactyly, Proptosis, Synosto...	ORPHA:1323
Chromosome 16Q22 Deletion Syndrome	Highly arched eyebrow, Wide anterior fontanel, Single transverse palmar crease, Microcephaly, Fro...	OMIM:614541
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Orofaciodigital Syndrome Ii	Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Hydrocephalus, Postaxial hand polydactyly,...	OMIM:252100
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Round face, Short metacarpal, Osteoporosis, Enamel h...	OMIM:612463
Radio-Tartaglia Syndrome	Retrognathia, Oval face, Small nail, Highly arched eyebrow, Microcephaly, Long face, Anteverted n...	OMIM:619312
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Brachycephaly, Dimple on nasal tip, Micromelia, Broad thumb, Short di...	ORPHA:1784
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Abnormal fibula morphology, Macrocephaly, Short nose, Sandal gap, Aplastic/hypoplas...	ORPHA:1812
ERI1-related disease	Dislocated radial head, Oligodactyly, Proptosis, Trigonocephaly, Syndactyly, Sparse hair, Slender...	OMIM:608739
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	ORPHA:93396
Weyers Acrofacial Dysostosis	Nail dysplasia, Clinodactyly of the 5th finger, Hypotelorism, Small nail, Postaxial hand polydact...	OMIM:193530
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Synophrys, Abnormal facial sha...	ORPHA:3306
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Brachydactyly, Hip dysplasia, Short distal phalanx...	ORPHA:1858
Pfeiffer Syndrome Type 2	Short nose, Aqueductal stenosis, Deviation of the thumb, Short hallux, Finger syndactyly, Cloverl...	ORPHA:93259
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Delayed ossification of carpal bones, Relative macrocephaly, Mesomelia, Metaphyseal irregularity,...	OMIM:271510
Oculodentodigital Dysplasia	Sparse hair, Fine hair, Clinodactyly, Taurodontia, Cranial hyperostosis, Brittle hair, Abnormalit...	ORPHA:2710
Cenani-Lenz Syndrome	Oligodactyly, Proptosis, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnor...	ORPHA:3258
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation, Macrocephaly	OMIM:607091
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Limitation of joint mobility, Camptodactyly of...	ORPHA:376
Cranioectodermal Dysplasia 3	Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Broad nail, Postaxial polydactyly, Fron...	OMIM:614099
Smith-Magenis Syndrome	Microcephaly, Joint stiffness, Large face, Ventriculomegaly, Delayed eruption of primary teeth, T...	ORPHA:819
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi...	OMIM:101800
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Macrocephaly, Abnormal cartilage matrix, Flared metaphysis, Wide ant...	ORPHA:2347
Temple-Baraitser Syndrome	Adducted thumb, Pseudoepiphysis of the thumb, Proximal placement of thumb, Wide nose, Hypoplastic...	OMIM:611816
Intellectual Developmental Disorder, Autosomal Dominant 59	Macrocephaly, Highly arched eyebrow, Short palm, Fragile nails, Brachydactyly, Flat face, Short foot	OMIM:618522
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Cloverleaf skull, Decrea...	ORPHA:93267
Crane-Heise Syndrome	Talipes equinovarus, Finger syndactyly, Anteverted nares, Decreased skull ossification, Abnormall...	ORPHA:1512
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Macrocephaly, Wide anterior fontanel, Anteverted nares, Frontal bossing, Micrognathia, Hypertelor...	OMIM:618272
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr...	ORPHA:3409
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Nail dystrophy, Triphalangeal thumb, Small nail, Absent middle phalanx of 5th finger, Absent toen...	OMIM:124480
6Q25 Microdeletion Syndrome	Rocker bottom foot, Plagiocephaly, Clinodactyly of the 5th finger, Microcephaly, Camptodactyly of...	ORPHA:251056
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen...	OMIM:620662
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Blepharocheilodontic Syndrome 1	Nail dysplasia, High anterior hairline, Small nail, Choanal atresia, Distichiasis, Hypertelorism,...	OMIM:119580
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Enamel hypoplasia, Syndactyly, Sparse hair	OMIM:613576
Arthrochalasia Ehlers-Danlos Syndrome	Retrognathia, Coxa vara, Joint stiffness, Micrognathia, Coxa valga, Hip dysplasia, Joint hypermob...	ORPHA:1899
Acrocraniofacial Dysostosis	Turricephaly, Abnormal hip bone morphology, Proptosis, Flared iliac wing, Broad thumb, Microcepha...	ORPHA:949
Congenital Disorder Of Glycosylation, Type Iic	Bulbous nose, Microcephaly, Brachydactyly, Coarse facial features, Short foot, Widow's peak	OMIM:266265
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Round face, Short metacarpal, Osteopor...	OMIM:103580
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Proptosis, Microcephaly, Lateral ventricle dilatation, Cran...	ORPHA:96148
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Proptosis, Brachyturricephaly, Shallow orbits, Microcephaly, Arachnodacty...	OMIM:182212
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Macrocephaly, Hydrocephalus, Long eyelashes, Horizontal eyebrow, Micrognathia, Bro...	OMIM:609757
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Brachycephaly, Sandal gap, Long face, Single transverse palmar crease, Proptosis, Micromelia, Thi...	OMIM:614800
Carpenter Syndrome	Polydactyly, Turricephaly, Genu valgum, Finger syndactyly, Cloverleaf skull, Postaxial hand polyd...	ORPHA:65759
Pycnodysostosis	Ridged nail, Prominent occiput, Absent frontal sinuses, Increased bone mineral density, Narrow il...	OMIM:265800
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Absent fingernail, Synostosis of carpal bones, 2nd-5th toe m...	ORPHA:93383
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Macrocephaly, Delayed eruption of teeth, Highly arched eyebrow, Anteverted nares, Low hanging col...	OMIM:618825
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Short nose, Abnormality of the hand, Triangular face, Mandibular pr...	ORPHA:369891
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly, Sparse hair	ORPHA:2266
Schaaf-Yang Syndrome	Rocker bottom foot, Retrognathia, Mandibular prognathia, Tapered finger, Short foot, Camptodactyl...	OMIM:615547
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Type E brachydactyly, Wide nose, Highly arched eyebrow, Broad face, Anteverted nar...	OMIM:600430
Smith-Kingsmore Syndrome	Short nose, Short proximal phalanx of finger, Macrocephaly, Deep palmar crease, Rhizomelia, Wide ...	OMIM:616638
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Abnormality of the hand, Uncombable hair, Abnormality of retinal pigmentatio...	ORPHA:1264
Epidermolysis Bullosa, Junctional 1B, Severe	Nail dysplasia, Nail dystrophy, Enamel hypoplasia, Carious teeth, Syndactyly	OMIM:226700
Mosaic Trisomy 16	Abnormality of the nose, Single transverse palmar crease, Profuse pigmented skin lesions, Syndact...	ORPHA:1708
Sclerosteosis 1	Nail dysplasia, Mandibular prognathia, Proptosis, Abnormal pelvic girdle bone morphology, Deviati...	OMIM:269500
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal syn...	ORPHA:2633
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Pycnodysostosis	Nail dysplasia, Ridged nail, Hypoplastic iliac wing, Proptosis, Mesomelia, Joint hypermobility, D...	ORPHA:763
Raine Syndrome	Subperiosteal bone formation, Highly arched eyebrow, Proptosis, Brachyturricephaly, Microcephaly,...	OMIM:259775
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Short 5th finger, Pri...	OMIM:610759
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Nail dysplasia, Cubitus valgus, Rhizo-meso-acromelic limb shortening, Curly eyelashes, Facial hir...	ORPHA:163654
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Macular hypopigmented whorls, streaks, and patches,...	OMIM:300337
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Intellectual Developmental Disorder, Autosomal Dominant 65	Turricephaly, Clinodactyly of the 5th finger, Anteverted nares, Single transverse palmar crease, ...	OMIM:619320
Coffin-Lowry Syndrome	Hyperconvex fingernails, Short metacarpal, Microcephaly, Short distal phalanx of finger, Joint hy...	ORPHA:192
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Malar flattening, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the...	ORPHA:52056
Laron Syndrome	Delayed eruption of teeth, Depressed nasal ridge, Abnormal facial shape, Micrognathia, Short toe,...	ORPHA:633
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Frontal bossing, Micrognathia, Short palm, Short humerus, Malar flattenin...	ORPHA:93328
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Cooks Syndrome	Dystrophic fingernails, Triphalangeal thumb, Aplastic/hypoplastic toenail, Dystrophic toenail, Sp...	ORPHA:1487
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Flared iliac wing, Flattened epiphysis, Short finger, Small epiphyses, Anteverted nares, Metaphys...	OMIM:300232
Suleiman-El-Hattab Syndrome	Polydactyly, Highly arched eyebrow, Single transverse palmar crease, Hirsutism, Synophrys, Fronta...	OMIM:618950
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular ro...	OMIM:271700
Opitz-Kaveggia Syndrome	Radial deviation of finger, Prominent fingertip pads, Relative macrocephaly, Broad thumb, Syndact...	OMIM:305450
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ...	ORPHA:317
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Hypoplastic iliac wing, Round face, Short long bone, Short metacarpal, Rhizo-meso-acromelic limb ...	OMIM:611717
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Sh...	ORPHA:93308
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly	ORPHA:294975
Roifman Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Underdeveloped nasal alae, Single transverse pa...	OMIM:616651
Ruvalcaba Syndrome	Hypopigmented skin patches, Short nose, Clinodactyly of the 5th finger, Proximal placement of thu...	ORPHA:3121
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Long eyelashes, Depressed nasal tip, Camptodactyly of finger, Microgna...	ORPHA:2863
Pseudopseudohypoparathyroidism	Short 4th metacarpal, Short metatarsal, Round face, Ectopic ossification, Brachydactyly, Short di...	ORPHA:79445
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Abnormality of the calcaneus, Depr...	ORPHA:163966
Jackson-Weiss Syndrome	Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t...	OMIM:123150
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Decreased cranial base ossification, Macrocephaly, Rhizomelia, Severe limb shortening, Metaphysea...	OMIM:151210
Char Syndrome	Clinodactyly of the 5th finger, Prominent occiput, Symphalangism of the 5th finger, Mesoaxial foo...	ORPHA:46627
Atelosteogenesis Type Ii	Wide nasal base, Sandal gap, Tracheobronchomalacia, Short metacarpal, Short lower limbs, Dumbbell...	ORPHA:56304
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Broad thumb, Craniosynostosis, Hypertelorism, Depress...	ORPHA:794
Rhombencephalosynapsis	Polydactyly, Short nose, Macrocephaly, Finger syndactyly, Anteverted nares, Hydrocephalus, Short ...	ORPHA:59315
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn...	OMIM:183600
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Highly arched eyebrow, Proptosis, Overlappin...	ORPHA:221120
Fountain Syndrome	Macrocephaly, Abnormal metacarpal morphology, Craniofacial hyperostosis, Spina bifida occulta, Lo...	ORPHA:3219
Apert Syndrome	Limited elbow movement, Proptosis, Brachyturricephaly, Shallow orbits, Broad thumb, Syndactyly, C...	OMIM:101200
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Short clavicles, Hirsutism, Steep acetabular roof, Hypoplastic ischia, Coronal cranio...	ORPHA:313855
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S...	OMIM:611263
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Flat capital femoral epiphysis, Delayed eruption of teeth, Dislocated radial head, Fl...	OMIM:612350
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos...	OMIM:201000
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Trisomy 1Q	Macrocephaly, Hypotelorism, Wide nose, Hydrocephalus, Frontal bossing, Arachnodactyly, Camptodact...	ORPHA:261344
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis, Abnormal facial shape, Syndactyly, Flat face, Hypertelorism, Depress...	OMIM:616006
Coffin-Siris Syndrome 6	Retrognathia, Plagiocephaly, Abnormal facial shape, Frontal bossing, Micrognathia, Broad nasal ti...	OMIM:617808
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, Short nose, Convex nasal ridge, Hydrocephalus, Single transverse palmar...	ORPHA:2409
Aarskog-Scott Syndrome	High anterior hairline, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndact...	ORPHA:915
Diamond-Blackfan Anemia 21	Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Synophrys, Horizontal eyebrow...	OMIM:620072
Curry-Jones Syndrome	Hypopigmented skin patches, Finger syndactyly, Foot polydactyly, Broad thumb, Toe syndactyly, Gen...	ORPHA:1553
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia, Hirsutism, Syndactyly, Sparse hair, Deeply set eye, Hypertelor...	OMIM:618087
Acrofacial Dysostosis, Catania Type	Bilateral single transverse palmar creases, Short nose, Clinodactyly of the 5th finger, Spina bif...	ORPHA:1786
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Proximal placement of thumb, Tracheomalacia, Wide anterior fontanel, Anteverted nares...	OMIM:217980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Rocker bottom foot, Sandal gap, Highly arched eyebrow, Bicoronal synostosis, 2-3 toe syndactyly, ...	OMIM:619951
Acalvaria	Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Holoprosencephaly, Calvarial skull defec...	ORPHA:945
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Joint hypermobility, Short distal ph...	OMIM:177170
Myopathy, Centronuclear, X-Linked	Macrocephaly, Hydrocephalus, Long face, Dandy-Walker malformation, Narrow face, Arachnodactyly, D...	OMIM:310400
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Apert Syndrome	Proptosis, Brachyturricephaly, Broad thumb, Ventriculomegaly, Aplasia/Hypoplasia of the thumb, Hy...	ORPHA:87
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Depressed nasa...	OMIM:118651
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Absent fingernail, Synostosis of carpal bones, Sh...	ORPHA:140908
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Brachycephaly, Short nose, Triangular face, Clinodactyly of the 5th finger, Hypopigment...	ORPHA:1974
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Clinodactyly of the 5th finger, Hydranencephaly, Narrow nasal ridge, 2-3 toe syndactyly, Antevert...	OMIM:236500
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal cortical bone morphology...	ORPHA:2635
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol...	ORPHA:1458
Non-Distal Deletion 10Q	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Biparietal narrowing,...	ORPHA:1581
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly, Delayed eruption of teeth	OMIM:613382
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Triangular face, Hypotelorism, Hydrocephalus, Narrow nasal ridge, Bowing of the long ...	OMIM:612940
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Trisomy 17P	High anterior hairline, Clinodactyly of the 5th finger, Broad eyebrow, Wide nose, Hydrocephalus, ...	ORPHA:261290
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Marfanoid-Progeroid-Lipodystrophy Syndrome	Retrognathia, Macrocephaly, Triangular face, Hydrocephalus, Hyperextensibility of the finger join...	OMIM:616914
Joubert Syndrome 10	Macrocephaly, Hirsutism, Postaxial hand polydactyly, Microcephaly, Frontal bossing, Brachydactyly...	OMIM:300804
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Hydrocephalus, Proptosis, Communicating hydrocephalus, ...	OMIM:112240
Melanocytic Nevus Syndrome, Congenital	Short nose, Congenital giant melanocytic nevus, Narrow nasal ridge, Anteverted nares, Round face,...	OMIM:137550
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Abnormal f...	ORPHA:2619
Kleefstra Syndrome 1	Brachycephaly, Tracheobronchomalacia, Mandibular prognathia, Anteverted nares, Single transverse ...	OMIM:610253
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Prominent occiput, Relative macrocephaly, Proptosis, Hypoplastic ilia, ...	OMIM:617895
Craniosynostosis, Philadelphia Type	Finger syndactyly, Craniosynostosis	ORPHA:1527
Monosomy 18P	Brachycephaly, Low posterior hairline, Microcephaly, Carious teeth, Micrognathia, Holoprosencepha...	ORPHA:1598
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Macrocephaly, Tapered finger, Abnormal facial shape, Frontal bossing, E...	OMIM:607131
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Microcephaly, Elbow flexion contracture, Hydrocephalus, Small nail	OMIM:619470
Chromosome 17P13.1 Deletion Syndrome	Turricephaly, Proximal placement of thumb, Highly arched eyebrow, Microcephaly, Arachnodactyly, J...	OMIM:613776
Kury-Isidor Syndrome	Brachycephaly, Rocker bottom foot, Proximal placement of thumb, Talipes equinovarus, Finger synda...	OMIM:619762
Oculomaxillofacial Dysostosis	Abnormality of the nose, Sparse or absent eyelashes, Abnormal eyelash morphology, Abnormality of ...	ORPHA:1794
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Larsen Syndrome	Broad distal phalanx of finger, Joint hypermobility, Finger syndactyly, Laryngotracheomalacia, Ab...	ORPHA:503
Oculodentodigital Dysplasia, Autosomal Recessive	Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Sparse hair, Fine hair,...	OMIM:257850
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Turricephaly, Crumpled long bones, Delayed eruption of teeth, Abn...	ORPHA:2050
Greenberg Dysplasia	Retrognathia, Short long bone, Short metacarpal, Decreased skull ossification, Multiple prenatal ...	OMIM:215140
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Secondary microcephaly, Retrognathia, Hydrocephalus, Anteverted nares, Dandy-Walker malformation,...	OMIM:612938
Lowry-Wood Syndrome	Limited elbow extension, Clinodactyly of the 5th finger, Irregular epiphyses, Small epiphyses, El...	OMIM:226960
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis, Brachydactyly	ORPHA:1937
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Wide anterior fontanel, Prominent fingertip pads, Low posterior h...	OMIM:300963
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Multiple Epiphyseal Dysplasia, Beighton Type	Flattened humeral heads, Reduced proximal interphalangeal joint space, Flat capital femoral epiph...	ORPHA:166011
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Macrocephaly, Calvarial osteosclerosis, Flared metaphysis, Increas...	OMIM:259700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, Triangular face, Brittle hair, Bicoronal synostosis, Long face, Tracheobronchomalacia,...	OMIM:619184
Smith-Magenis Syndrome	Brachycephaly, Broad face, Mandibular prognathia, Synophrys, Short palm, Malar flattening, Brachy...	OMIM:182290
Fibrochondrogenesis 2	Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short long bone, Hypop...	OMIM:614524
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Cranial hyperostosis, Osteopetrosis, Genu valgum, Di...	OMIM:259710
Dislocation Of The Hip-Dysmorphism Syndrome	Anteverted nares, Depressed nasal ridge, Congenital hip dislocation, Deviation of finger, Malar f...	ORPHA:2412
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Anteverted nares, Decreased skull ossification, Syndactyly, Toe s...	OMIM:601163
Achondroplasia	Narrow greater sciatic notch, Femoral bowing, Trident hand, Genu varum, Rhizomelia, Hydrocephalus...	OMIM:100800
Orofaciodigital Syndrome Viii	Polydactyly, Bifid nasal tip, Broad nasal tip, Syndactyly, Short tibia, Hypertelorism	OMIM:300484
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Aplastic/hypoplastic toenai...	OMIM:186500
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Microcephaly, Carious teeth, Microg...	ORPHA:96097
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Proptosis, Low posterior hairline, Gener...	OMIM:245600
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Femoral bowing, Short long bone, Clubbing, Tibial bo...	OMIM:601559
Wiedemann-Steiner Syndrome	Broad lateral eyebrow, Highly arched eyebrow, Generalized hypertrichosis, Low posterior hairline,...	OMIM:605130
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Genu valgum, Small epiphyses, Mandibular prognathia, Round face, Short l...	OMIM:618363
49,Xyyyy Syndrome	Large carpal bones, Turricephaly, Abnormality of the epiphyses of the elbow, Finger clinodactyly,...	ORPHA:99330
8Q22.1 Microdeletion Syndrome	Abnormal nostril morphology, Sandal gap, Highly arched eyebrow, Finger syndactyly, Limitation of ...	ORPHA:178303
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Arachnodactyly, Syndactyly, Hypertelorism, Clinodactyly	OMIM:619092
Antley-Bixler Syndrome	Brachycephaly, Short nose, Turricephaly, Anteverted nares, Femoral bowing, Proptosis, Choanal atr...	ORPHA:83
Infantile Sialic Acid Storage Disease	Osteopenia, Hydrocephalus, Anteverted nares, Hypopigmentation of the skin, Metaphyseal irregulari...	OMIM:269920
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Wide nose, Hypoplastic fifth toenail, Anteverted nares, Thick nas...	OMIM:618027
Prolidase Deficiency	Bilateral single transverse palmar creases, Reduced bone mineral density, Palmoplantar keratoderm...	ORPHA:742
Sweeney-Cox Syndrome	Small nail, Short distal phalanx of finger, Widow's peak, Choanal atresia, Broad nasal tip, Flat ...	OMIM:617746
Anauxetic Dysplasia 1	Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Mandibular...	OMIM:607095
Aredyld Syndrome	Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu...	ORPHA:1133
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci...	OMIM:114290
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Short nose, Hydrocephalus, Dandy-Walker malformation, Thick nasal alae, Frontal bos...	ORPHA:163961
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormal calvaria morphology, Denta...	ORPHA:3079
Bartsocas-Papas Syndrome	Hypoplastic toenails, Short nose, Sparse or absent eyelashes, Finger syndactyly, Synostosis of jo...	ORPHA:1234
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Hydrocephalus, Dandy-Walker malformation, Low posterior hairlin...	OMIM:220210
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Dislocated radial head, Progressive microcephaly, Delayed ossificat...	OMIM:617425
Cardioacrofacial Dysplasia 2	Nail dysplasia, Genu valgum, Clinodactyly of the 5th finger, Long face, Mandibular prognathia, Cl...	OMIM:619143
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Metaphyseal irregularity, Joint hypermobility, Hip dislocation, Hydrocephalus, D...	OMIM:616007
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Retrognathia, Abnormal metaphysis morphology, Clinodactyly of the 5th...	ORPHA:2637
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Coloboma Of Macula With Type B Brachydactyly	Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph...	OMIM:120400
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Proptosis, Dumbbell-shaped long bone, Hypoplastic ...	OMIM:228520
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Clinodactyly of the 5th finger, Abnormal facial shape, Syndactyly, Tapered finger	OMIM:618725
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Macrocephaly, Cubitus valgus, Mandibular prognathia, Patchy alopecia, Hypoplasia of the maxilla, ...	OMIM:300534
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Desbuquois Dysplasia 2	Round face, Short long bone, Flat acetabular roof, Short metacarpal, Relative macrocephaly, Broad...	OMIM:615777
Hamamy Syndrome	Low posterior hairline, Syndactyly, Sparse hair, Craniosynostosis, Long toe, Anteverted nares, Sp...	OMIM:611174
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Proptosis, Short humerus, Fibular aplasia, Short finge...	OMIM:108720
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Joint hypermobility, Short long bone, Flat face, Adducted thumb, A...	OMIM:620269
Leopard Syndrome 2	Multiple lentigines, Cubitus valgus, Mandibular prognathia, Curly hair, Cafe-au-lait spot, Dolich...	OMIM:611554
Saethre-Chotzen Syndrome	Long nose, Parietal foramina, Shallow orbits, Partial duplication of the distal phalanx of the 3r...	OMIM:101400
Dubowitz Syndrome	Sandal gap, Broad thumb, Microcephaly, Abnormality of thumb phalanx, Joint hypermobility, Cranios...	ORPHA:235
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Silver-Russell Syndrome 3	Retrognathia, Triangular face, Clinodactyly of the 5th finger, Frontal bossing, Syndactyly, Melan...	OMIM:616489
Mulibrey Nanism	Triangular face, Wide nose, Absent frontal sinuses, Single transverse palmar crease, Hypoplastic ...	OMIM:253250
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micrognathia, Ventriculomegaly, Preaxial ...	OMIM:614120
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Wide nose, Clinodactyly of the 3rd toe, ...	ORPHA:521308
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe	OMIM:190680
Spondyloepiphyseal Dysplasia Congenita	Increased head circumference, Limited elbow movement, Genu valgum, Reduced bone mineral density, ...	ORPHA:94068
Kbg Syndrome	Finger clinodactyly, Triangular face, Anteverted nares, Single transverse palmar crease, Round fa...	ORPHA:2332
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Dislocated radial head, Limited elbow extension and supination, Synophrys, Prominent ...	ORPHA:401935
Beemer Lethal Malformation Syndrome	Hydrocephalus, Wide nasal bridge	OMIM:209970
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Retrognathia, Hypotelorism, Hydrocephalus, Congenital contracture, Synophrys, Micrognathia, Colpo...	OMIM:620156
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, Short finger, Wide nasal base, Hypotelorism, Sandal gap, Del...	ORPHA:2980
3C Syndrome	Short nose, Macrocephaly, Hypoplastic fingernail, Abnormal hip bone morphology, Prominent occiput...	ORPHA:7
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Wi...	ORPHA:2319
Campomelic Dysplasia	Tracheobronchomalacia, Femoral bowing, Short long bone, Tibial bowing, Proptosis, Ventriculomegal...	ORPHA:140
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Highly arched eyebrow, Round face, Lo...	ORPHA:261318
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Retrognathia, Preaxial polydactyly, Highly arched eyebrow, Bilateral talipes equin...	OMIM:618142
Schneckenbecken Dysplasia	Short nose, Macrocephaly, Snail-like ilia, Short long bone, Flat acetabular roof, Dumbbell-shaped...	OMIM:269250
Robinow Syndrome, Autosomal Dominant 1	Nail dysplasia, Retrognathia, Radial deviation of finger, Dislocated radial head, Short long bone...	OMIM:180700
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Sparse lateral eyebrow, Long face, High anterior hairline, Brachydactyly	OMIM:618879
Lenz-Majewski Hyperostotic Dwarfism	Hyperconvex fingernails, Abnormal finger morphology, Symphalangism affecting the phalanges of the...	ORPHA:2658
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Short nose, Turricephaly, Macrocephaly, Hydrocephalus, Long face, Mandibular progn...	OMIM:613603
15Q Overgrowth Syndrome	Retrognathia, Turricephaly, Abnormal coccyx morphology, Arachnodactyly, Contracture of the proxim...	ORPHA:314585
Band Heterotopia	Plagiocephaly, Macrocephaly, Hydrocephalus, Lateral ventricle dilatation, Ventriculomegaly	OMIM:600348
Marshall-Smith Syndrome	Retrognathia, Short nose, Reduced bone mineral density, Slender long bone, Anteverted nares, Prop...	ORPHA:561
Short Syndrome	Abnormal zygomatic bone morphology, Triangular face, Abnormal dental enamel morphology, Short pal...	ORPHA:3163
Orofaciodigital Syndrome Xix	Retrognathia, Underdeveloped nasal alae, Bifid nasal tip, Postaxial hand polydactyly, Thick nasal...	OMIM:620107
Spondyloepimetaphyseal Dysplasia, Krakow Type	Irregular epiphyses, Delayed pubic bone ossification, Clinodactyly of the 5th finger, Knee flexio...	OMIM:618162
Pettigrew Syndrome	Aqueductal stenosis, Calvarial osteosclerosis, Hydrocephalus, Long face, Mandibular prognathia, D...	OMIM:304340
Multiple Sulfatase Deficiency	Macrocephaly, Hydrocephalus, Anteverted nares, Broad thumb, Microcephaly, Joint stiffness, Abnorm...	ORPHA:585
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Small nail, Round face, Joint stiffness, Clinodactyly, Medial flaring of the eyebrow, Long face, ...	OMIM:620494
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density, Short femoral neck, Brachydac...	OMIM:618392
Isolated Arrhinia	Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal cartilage...	ORPHA:1134
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Large tarsal bones, Flared metaphysis, Anteverted nares, Short long bone, Aplasia/Hypoplasia of t...	OMIM:215150
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Round face, Short metacarpal, Brachydact...	OMIM:113300
Robinow Syndrome, Autosomal Recessive 1	Nail dysplasia, Retrognathia, Radial deviation of finger, Mesomelic arm shortening, Small nail, D...	OMIM:268310
Endocrine-Cerebroosteodysplasia	Sandal gap, Tibial bowing, Syndactyly, Ventriculomegaly, Fibular bowing, Hydrocephalus, Depressed...	OMIM:612651
Hartsfield Syndrome	Semilobar holoprosencephaly, Hypotelorism, Wide nose, Alobar holoprosencephaly, Hypoplasia of the...	OMIM:615465
Blepharocheilodontic Syndrome 2	Nail dysplasia, Distichiasis, Flat face, Cutaneous syndactyly, Hypertelorism, Facial asymmetry	OMIM:617681
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Sparse eyelashes, Hypoplasia ...	ORPHA:306542
Hajdu-Cheney Syndrome	Partial absence of toe, Prominent occiput, Decreased skull ossification, Short distal phalanx of ...	ORPHA:955
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Round face, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Flat face,...	OMIM:132450
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Proptosis, ...	ORPHA:508533
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Short nose, Small nail, Highly arched eyebrow, Hydrocephalus, Mandibular prognathi...	OMIM:239300
Crouzon Syndrome	Brachycephaly, Deviated nasal septum, Lambdoidal craniosynostosis, Hydrocephalus, Mandibular prog...	OMIM:123500
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, Short 4th metacarpal, Finger syndactyly, Sparse eyelashes, Sparse lateral ey...	ORPHA:1787
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Wide nasal base, Anteverted nares, Patchy alopecia, Extra-axial c...	OMIM:617763
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Small nail, Absent eyelashes, Short metacarpal, Absent eyebrow, Cafe-au-lait spot, Frontal bossin...	ORPHA:166035
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Thanatophoric Dysplasia, Type Ii	Short greater sciatic notch, Flared metaphysis, Cloverleaf skull, Hypoplastic ilia, Micromelia, F...	OMIM:187601
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Trigonocephaly, Sparse eyelashes, Micrognathia, Natal tooth, Sparse eyebrow, D...	OMIM:616901
Temple Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Relative macrocephaly, Frontal bossing, Few cafe-a...	ORPHA:254516
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones	OMIM:600384
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Osteopenia, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cuppi...	OMIM:156400
Cleidocranial Dysplasia 1	Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ...	OMIM:119600
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Fg Syndrome Type 1	Plagiocephaly, Abnormal thumb morphology, Macrocephaly, Clinodactyly of the 2nd finger, Prominent...	ORPHA:93932
Genitopalatocardiac Syndrome	Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Micrognathia, Brachydactyly, Hypertelori...	ORPHA:2075
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Rocker bottom foot, Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, B...	OMIM:612582
Rabin-Pappas Syndrome	Retrognathia, Postnatal macrocephaly, Tracheomalacia, Highly arched eyebrow, Long face, Mandibula...	OMIM:620155
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Aarskog-Scott Syndrome	Short nose, Radial deviation of finger, Hyperextensibility of the finger joints, Anteverted nares...	OMIM:305400
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Mandibular prognathia, 2-3 toe syndactyly, Flared nostrils, Abnormal faci...	ORPHA:284180
Tarsal-Carpal Coalition Syndrome	Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit...	OMIM:186570
Multiple Synostoses Syndrome 4	Otosclerosis, Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Otopalatodigital Syndrome Type 2	Flared iliac wing, Hypoplastic frontal sinuses, Myelomeningocele, Fibular aplasia, Tarsal synosto...	ORPHA:90652
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Weaver Syndrome	Retrognathia, Radial deviation of finger, Hypoplastic iliac wing, Round face, Prominent fingertip...	OMIM:277590
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Short nose, Hypopigmentation of hair, Abno...	ORPHA:894
Spondylocarpotarsal Synostosis Syndrome	Short metacarpal, Tarsal synostosis, Bowed humerus, Broad face, Anteverted nares, Frontal bossing...	OMIM:272460
Specific Granule Deficiency 2	Nail dysplasia, Amelogenesis imperfecta, Osteopenia, Sandal gap, Hirsutism, Fragile nails, Brachy...	OMIM:617475
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Proptosis, Short metacarpal, Fla...	OMIM:271665
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Lambotte Syndrome	Retrognathia, Semilobar holoprosencephaly, Microcephaly, Convex nasal ridge, Hypertelorism, Preax...	OMIM:245552
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bilateral single transverse palmar creases, Retrognathia, Aplasia/hypoplasia of the femur, Broad ...	ORPHA:2636
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Lowry-Wood Syndrome	Abnormality of nail color, Irregular epiphyses, Dislocated radial head, Coxa vara, Epiphyseal dys...	ORPHA:1824
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Triangular face, Abnormal diaphysis morphology, Generalized bone demi...	ORPHA:73230
Autosomal Recessive Kenny-Caffey Syndrome	Calvarial osteosclerosis, Decreased skull ossification, Thin long bone diaphyses, Cortical thicke...	ORPHA:93324
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, High anterior hairline, Macrocephaly, Triangular face, Joint contracture of the 5th...	OMIM:620098
Thanatophoric Dysplasia, Type I	Macrocephaly, Short greater sciatic notch, Flared metaphysis, Cloverleaf skull, Hydrocephalus, Fe...	OMIM:187600
Prader-Willi Syndrome Due To Translocation	Retrognathia, Stellate iris, Hypopigmentation of the skin, Proptosis, Microcephaly, Lateral ventr...	ORPHA:177907
Triploidy	Macrocephaly, Meningocele, Finger syndactyly, Hydrocephalus, Decreased skull ossification, Microg...	ORPHA:3376
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Czeizel-Losonci Syndrome	Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar crease, Hypoplast...	ORPHA:2437
Rudiger Syndrome	Hypoplastic fingernail, Single transverse palmar crease, High axial triradius, Frontal bossing, F...	OMIM:268650
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Osteopenia, Short nose, Flared metaphysis, Ventriculomegaly, Anteverted nares, Dec...	OMIM:616897
Polysyndactyly With Cardiac Malformation	Small nail, Anteverted nares, Abnormal facial shape, Duplication of phalanx of hallux, Syndactyly...	OMIM:263630
Craniofrontonasal Syndrome	Hypoplastic nasal tip, Ridged nail, Bifid nasal tip, Low posterior hairline, Joint hypermobility,...	OMIM:304110
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal metacarpal morphology, Short hallux, Finger syndactyly, Abnormal nasal morphology, Facia...	ORPHA:3224
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short long bone, Femoral bowing, Relative macrocephaly, Metaphyseal irregularity, Joint hypermobi...	OMIM:618019
Fried Syndrome	Hydrocephalus, Long face, Thickened calvaria, Coarse facial features	ORPHA:85335
Holoprosencephaly 7	Cranial asymmetry, Shallow orbits, Microcephaly, Hypoplasia of the premaxilla, Broad face, Hypopl...	OMIM:610828
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Silver-Russell Syndrome 1	Triangular face, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Cafe-au-...	OMIM:180860
Craniotelencephalic Dysplasia	Hydrocephalus, Microcephaly, Frontal bossing, Craniosynostosis, Frontal encephalocele	ORPHA:1528
Cardiofaciocutaneous Syndrome	Multiple lentigines, Sparse or absent eyelashes, Low posterior hairline, Sparse hair, Generalized...	ORPHA:1340
16P12.1P12.3 Triplication Syndrome	Retrognathia, Short nose, 2-3 toe syndactyly, Prominent fingertip pads, Bulbous nose, Thick eyebr...	ORPHA:485405
Shashi-Pena Syndrome	Retrognathia, Macrocephaly, Deep palmar crease, Cervical C2/C3 vertebral fusion, Highly arched ey...	OMIM:617190
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Abnormal calvaria morphology, Piebald skin ...	ORPHA:2884
Craniolenticulosutural Dysplasia	Osteopenia, Macrocephaly, Brittle hair, Delayed eruption of teeth, Wide anterior fontanel, Narrow...	OMIM:607812
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Hypertelor...	OMIM:258860
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Palmoplantar cutis gyrata, Abnormality of the nail, Cloverleaf skull, Anteverted na...	ORPHA:1555
Fanconi Anemia, Complementation Group S	Proximal placement of thumb, Anteverted nares, Long eyelashes, Microcephaly, Hypertelorism, Low a...	OMIM:617883
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Short long...	ORPHA:1190
Basilar Impression, Primary	Craniofacial asymmetry, Platybasia, Abnormal cervical myelogram	OMIM:109500
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormality of the nose, Hypopigmentation of hair, Synophrys, White fo...	ORPHA:897
Cardiofacioneurodevelopmental Syndrome	Clinodactyly of the 5th finger, Hypotelorism, Camptodactyly, Microcephaly, Micrognathia, Aplasia/...	OMIM:619123
Trisomy 12P	Short nose, Turricephaly, Clinodactyly of the 5th finger, Proptosis, Micrognathia, Large hands, T...	ORPHA:1699
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Bohring-Opitz Syndrome	Retrognathia, Dislocated radial head, Proptosis, Trigonocephaly, Syndactyly, Overlapping toe, Dee...	OMIM:605039
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Aplasia of the distal phalanx of the 5th toe, Small nail, Underdeveloped nasal alae, ...	ORPHA:364577
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Unilateral brachydactyly, Plagiocephaly, Wide nose, Low posterior hairline, Midline nasal groove,...	ORPHA:1521
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Short finger, Hypotelorism, Long face, Single transverse palmar crease, Slender fi...	OMIM:615656
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Microcephaly, Frontal bossing, Micrognathia, Short toe, Malar flattening, Flexion c...	ORPHA:98791
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Rapp-Hodgkin Syndrome	Nail dystrophy, Decreased number of sweat glands, Small nail, Syndactyly, Sparse hair, Fine hair,...	OMIM:129400
Dysosteosclerosis	Abnormal metaphysis morphology, Macrocephaly, Craniofacial hyperostosis, Delayed eruption of teet...	ORPHA:1782
Gorlin Syndrome	Brachycephaly, Macrocephaly, Palmar pits, Hydrocephalus, Mandibular prognathia, Carious teeth, Fr...	ORPHA:377
1Q44 Microdeletion Syndrome	Hydrocephalus, Biparietal narrowing, Synophrys, Microcephaly, Frontal bossing, Micrognathia, Vent...	ORPHA:238769
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal	OMIM:112410
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Coarse facial features, Hypopigmentation of hair	ORPHA:90023
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Macrocephaly, Palmar pits, Broad face, Hydrocephalus, Mandibul...	OMIM:109400
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Hemifacial hypoplasia, Sandal gap, Scarring alopecia of scalp, Thick nasal alae, Persistence of p...	OMIM:618727
Schizophrenia 1	Short proximal phalanx of the 4th toe, Frontal bossing, Syndactyly, Flat occiput, Hypertelorism	OMIM:181510
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hyperconvex fingernails, Proptosis, Arachnodactyly, Advanced eruption of teeth, Talipes equinovar...	ORPHA:2215
15q26 overgrowth syndrome	High anterior hairline, Macrocephaly, Triangular face, Joint hypermobility, Long face, Mandibular...	DECIPHER:81
Chitayat Syndrome	Tracheomalacia, Anteverted nares, Proptosis, Brachydactyly, Hallux valgus, Hypertelorism, Depress...	OMIM:617180
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Abnormal metacarpal morphology, Hypoplasia of the maxilla, Coronal craniosynostosi...	ORPHA:2095
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Short nose, Triangular face, Clinodactyly of the 5th finger, Widow's peak, Antever...	OMIM:227330
Feingold Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Deviation of the 2nd finger, Microcephaly, Micr...	ORPHA:1305
Sillence Syndrome	Short finger, Chess-pawn distal phalanges, Large tarsal bones, Oval face, Intervertebral disk deg...	ORPHA:3168
Cerebrooculonasal Syndrome	Brachycephaly, Short nose, Macrocephaly, Proboscis, Encephalocele, Hydrocephalus, Anteverted nare...	OMIM:605627
Jeune Syndrome	Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:474
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, White forelock, Dolichocephaly, Joint hypermob...	ORPHA:2475
Hurler Syndrome	Diaphyseal undertubulation, Cranial hyperostosis, Macrocephaly, Hydrocephalus, Short clavicles, A...	OMIM:607014
Donnai-Barrow Syndrome	Short nose, Macrocephaly, Wide anterior fontanel, Proptosis, Hypertelorism, Depressed nasal bridg...	ORPHA:2143
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Short nose, Small epiphyses, Femoral...	OMIM:616723
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, Dislocated radial ...	OMIM:617604
Stolerman Neurodevelopmental Syndrome	Hypermelanotic macule, Clinodactyly of the 5th finger, Mandibular prognathia, Round face, Hypopla...	OMIM:618505
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Abnormal facial shape, Micrognathia, Broad columella, Malar flattening, Brachydactyly, Dental mal...	ORPHA:436245
Acropectorovertebral Dysplasia	Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B...	OMIM:102510
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu...	ORPHA:968
Xylt1-Cdg	Moon facies, Flared metaphysis, Short clavicles, Short long bone, Hirsutism, Relative macrocephal...	ORPHA:370930
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Ulnar deviation of the hand, Malar flattening, Flat face, ...	OMIM:122880
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Pr...	ORPHA:1788
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Highly arched eyebrow, Long face, Biparietal narrowi...	ORPHA:2754
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Long nose, Wide nose, Low insertion of columella, Broad nasal tip, Brachydactyly, ...	OMIM:619995
Shprintzen-Goldberg Syndrome	Retrognathia, Proptosis, Microcephaly, Arachnodactyly, Joint stiffness, Joint hypermobility, Cran...	ORPHA:2462
Tenorio Syndrome	Osteopenia, Macrocephaly, Wide nose, Hydrocephalus, Anteverted nares, Mandibular prognathia, Thic...	OMIM:616260
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal...	OMIM:618728
W Syndrome	Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Clinodactyly, Hyperte...	ORPHA:2804
Beare-Stevenson Cutis Gyrata Syndrome	Limited elbow extension, Hypoplastic fingernail, Palmoplantar cutis laxa, Small nail, Ventriculom...	OMIM:123790
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Hydrocephalus, Camptodactyly of finger, Dolichocephaly, Flexion con...	ORPHA:272
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Dry hair, Triangular face, Brittle hair, Progressive hypotrichosis, Sparse eyelas...	OMIM:225060
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger	OMIM:140450
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Periorbital hyperpigmentation, Small nail, Cone-shaped epiphyses of the phalanges...	ORPHA:261323
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Rocker bottom foot, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, J...	ORPHA:488642
Pyknoachondrogenesis	Short iliac bones, Increased head circumference, Craniofacial hyperostosis, Abnormal iliac wing m...	ORPHA:3003
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Retrognathia, Clinodactyly of the 5th finger, Sparse or absent eyelashes, Finger ...	ORPHA:217346
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Underdeveloped nasal alae, Heterochromia ...	OMIM:193510
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Facial hirsutism, Hydranencephaly, ...	ORPHA:2839
Six2-Related Frontonasal Dysplasia	Macrocephaly, Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Frontal bossing, Broa...	ORPHA:488437
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Nail dystrophy, Dystrophic fingernails, Palmoplantar ...	ORPHA:3253
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Delayed eruption of teeth, Round face, Short metacarpal, Osteoporosis, Enamel h...	OMIM:612462
Methylmalonic Acidemia With Homocystinuria	Microcephaly, Hydrocephalus	ORPHA:26
Desmosterolosis	Short nose, Macrocephaly, Rhizomelia, Hydrocephalus, Anteverted nares, Relative macrocephaly, Bil...	OMIM:602398
Frank-Ter Haar Syndrome	Short long bone, Proptosis, Anteverted nares, Camptodactyly, Osteoporosis, Cafe-au-lait spot, Sho...	OMIM:249420
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dislocated radial head, Narrow nasal ridge, Microcephaly, Hydrocephalus, Long face, Frontal bossi...	OMIM:619512
6P22 Microdeletion Syndrome	Hypotelorism, Finger syndactyly, Hydrocephalus, Deeply set eye, Clinodactyly	ORPHA:251046
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Mandibular prognathia, Hypopigmentation of the skin, Cessation of head ...	ORPHA:411515
Teebi Hypertelorism Syndrome 1	Short nose, Highly arched eyebrow, Anteverted nares, Coronal craniosynostosis, Frontal bossing, M...	OMIM:145420
17Q23.1Q23.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Patellar hypoplasia, ...	ORPHA:261279
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Hydrocephalus, Shoulder dislocation, Frontal bossing, Arachnodactyly, Joint hypermobility, Adduct...	ORPHA:2181
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Overlapping fingers, Triangular face, Highly arched eyebrow, Anteverted nares, Synoph...	OMIM:618316
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Microcephaly, Joint stiffnes...	OMIM:139210
Kabuki Syndrome 2	Short columella, Highly arched eyebrow, Hirsutism, Prominent fingertip pads, Long eyelashes, Spar...	OMIM:300867
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Short long bone, Bowing of the long bones, Micromelia, Microcephaly, Mic...	OMIM:224410
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Progressive Osseous Heteroplasia	Hypermelanotic macule, Limitation of joint mobility, Ectopic ossification in muscle tissue, Osteo...	ORPHA:2762
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Turricephaly, Proximal tibial and fibular fusion, Femoral bowing, Short metac...	ORPHA:95699
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Sandal gap, Joint contracture of the 5th finger, Mandibular prognathia, 2-3 toe syn...	OMIM:618914
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Relative macrocephaly, Proptosis, Low posterior hairline, Sparse hair, Deep ...	OMIM:115150
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar...	ORPHA:177910
12Q14 Microdeletion Syndrome	Abnormal nostril morphology, Triangular face, Clinodactyly of the 5th finger, Osteopoikilosis, Hy...	ORPHA:94063
Craniometaphyseal Dysplasia	Abnormal metaphysis morphology, Osteopetrosis, Craniofacial hyperostosis, Hypertelorism, Wide nas...	ORPHA:1522
Craniolenticulosutural Dysplasia	Wide nose, Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Decreased skul...	ORPHA:50814
Orofaciodigital Syndrome I	Radial deviation of finger, Myelomeningocele, Microcephaly, Syndactyly, Sparse hair, Clinodactyly...	OMIM:311200
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small nail, Low posterior hairline, Trigonocephaly, Microcephaly, Craniosynostosis, Overlapping t...	OMIM:309590
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Wide nose, Talipes equinovarus, Humeroradial synostosis,...	OMIM:610017
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Sparse hair, Cone-shaped epiphysis, Tarsal synostosis, Brittle hair...	ORPHA:2750
Brachydactyly-Arterial Hypertension Syndrome	Short phalanx of finger, Short metacarpal, Brachydactyly	ORPHA:1276
Genitopatellar Syndrome	Knee flexion contracture, Delayed eruption of teeth, Wide nose, Sparse scalp hair, Hypoplastic il...	ORPHA:85201
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Secondary microcephaly, Macrocephaly, Hydrocephalus, Bilateral talipes equinovarus	OMIM:618174
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Macrocephaly, Triangular face, Long face, Mandibular prognathia, Proptosis, Communicating hydroce...	OMIM:617011
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Sparse eyebrow, Dolichocephaly, Hypert...	OMIM:167730
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Distal 22Q11.2 Microduplication Syndrome	Low posterior hairline, Microcephaly, Hydrocephalus, Biparietal narrowing, Frontal bossing, Hypop...	ORPHA:261337
Robinow Syndrome, Autosomal Dominant 3	Short nose, Macrocephaly, Anteverted nares, Proptosis, Camptodactyly, Long eyelashes, Broad thumb...	OMIM:616894
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Highly arched eyebrow, Mandibular prognathia, Anosmia, Synophrys, Thick eyebrow, Hypertelorism	ORPHA:2057
Pfeiffer Syndrome Type 3	Short nose, Tracheomalacia, Short hallux, Finger syndactyly, Limitation of joint mobility, Choana...	ORPHA:93260
Bresek Syndrome	Plagiocephaly, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, Convex nasal ridge, Alopecia	ORPHA:85284
Marshall Syndrome	Brachycephaly, Short nose, Genu valgum, Anteverted nares, Proptosis, Hypoplastic frontal sinuses,...	ORPHA:560
Intellectual Developmental Disorder, Autosomal Recessive 78	Retrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Hypopigmentation of the skin, Micro...	OMIM:620237
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Talipes equinovarus, Facial hypertrichosis, Relative macrocephaly, Camptodactyly...	ORPHA:397709
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Macrocephaly, Diaphyseal sclerosis, Hydrocephalus, Dandy-Walker malformation, Long...	OMIM:618476
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia	OMIM:166990
Short-Rib Thoracic Dysplasia 12	Short finger, Macrocephaly, Anencephaly, Hydrocephalus, Hypoplastic nipples, Short long bone, Sho...	OMIM:269860
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Cubitus valgus, Hydrocephalus, Low posterior hairline, Sparse facial hair, ...	ORPHA:2183
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Triangular face, Hypoplastic fingernail, Clinodactyly of the 5th finger, Ectrodactyl...	ORPHA:397590
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Biparietal narrowing, Broad thumb, Large hands, Abnor...	ORPHA:1770
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Prominent occiput, Highly arched eyebrow, Prominent fingerti...	OMIM:602535
Leri Pleonosteosis	Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal finger m...	ORPHA:2900
Craniosynostosis 4	Retrognathia, Lambdoidal craniosynostosis, Bicoronal synostosis, Proptosis, Coronal craniosynosto...	OMIM:600775
Cri-Du-Chat Syndrome	Premature graying of hair, Short metatarsal, Anterior open-bite malocclusion, Long face, Single t...	OMIM:123450
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Abnormal 5th metacarpal morphology, Colpoceph...	ORPHA:397715
Cranioectodermal Dysplasia 1	Radial deviation of finger, Short humerus, Sparse hair, Short distal phalanx of finger, Joint hyp...	OMIM:218330
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Abnormal facial shape, Microcephaly, Broad nasal tip, Prominent nasal bridge, Brac...	ORPHA:457193
Acrofacial Dysostosis 1, Nager Type	Retrognathia, Radial deviation of finger, Temporomandibular joint ankylosis, Microcephaly, Absent...	OMIM:154400
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Retrognathia, Clinodactyly of the 5th toe, Medial flaring of the eyebrow,...	OMIM:620113
Isolated Exencephaly	Abnormal facial skeleton morphology, Abnormal calvaria morphology, Hypoplasia of the frontal bone...	ORPHA:563612
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly, Hypertelor...	OMIM:244600
Diastrophic Dysplasia	Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Short long bone, Hip contractur...	OMIM:222600
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Macrocephaly, Hydrocephalus, Thumb contracture, Adducted thumb	OMIM:307000
Mucopolysaccharidosis, Type Vi	Cervical myelopathy, Hypoplastic iliac wing, Flared iliac wing, Joint stiffness, Metaphyseal irre...	OMIM:253200
Jacobsen Syndrome	Short nose, Macrocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Anteverted nares, Abnorm...	OMIM:147791
Hypertelorism, Microtia, Facial Clefting Syndrome	2-3 toe syndactyly, Microcephaly, Micrognathia, Broad nasal tip, Bifid nose, Short 5th finger, Hy...	OMIM:239800
Trisomy 8P	Retrognathia, Clinodactyly of the 5th toe, Clinodactyly of the 2nd finger, Low posterior hairline...	ORPHA:264450
Abruzzo-Erickson Syndrome	Short toe, Malar flattening, Brachydactyly, Radioulnar synostosis, Flat face, Toe syndactyly, Uln...	ORPHA:921
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Progressive microcephaly, CSF lymphocytic pleiocytosis, Convex nasal ridge, Ventri...	OMIM:610333
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Radial bowing, Brachydactyly, Short femoral neck, Thic...	OMIM:602152
Chromosome 17Q12 Duplication Syndrome	Triangular face, Broad thumb, Micrognathia, Brachydactyly, Deeply set eye	OMIM:614526
Nablus Mask-Like Facial Syndrome	Retrognathia, Sandal gap, Highly arched eyebrow, Sparse hair, Craniosynostosis, Clinodactyly, Ant...	OMIM:608156
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Finger syndactyly, Abnormal toenail morphology,...	ORPHA:1433
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Short long bone, Proptosis, Microcephaly, Broad femoral neck, Lateral v...	OMIM:611209
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Palmoplantar cutis gyrata, Dislocated radial head, Proptosis, Arachnodactyly, Joint hypermobility...	OMIM:130070
Duane Retraction Syndrome	Irregular hyperpigmentation, Low posterior hairline, Microcephaly, Absent radius, Central heteroc...	ORPHA:233
Lethal Acantholytic Erosive Disorder	Absent hair, Clinodactyly of the 5th finger, Absent eyelashes, 4-5 finger syndactyly, Absent fing...	ORPHA:158687
Oculocerebrocutaneous Syndrome	Hypopigmented skin patches, Finger syndactyly, Hydrocephalus, Dandy-Walker malformation, Congenit...	ORPHA:1647
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Widow's peak, B...	OMIM:304120
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis, Short thumb, Brachydactyly	ORPHA:435804
Frias Syndrome	Micrognathia, Hypertelorism, Proptosis	OMIM:609640
Emanuel Syndrome	Broad jaw, Low hanging columella, Hydrocephalus, Dandy-Walker malformation, Congenital hip disloc...	OMIM:609029
Cono-Spondylar Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Anteverted nares, Abnormal facial shape, Epip...	ORPHA:420794
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Hypotelorism, Round face, Microcephaly, Broad nasal tip, Brachydactyly, Tapered fi...	OMIM:619680
Frontonasal Dysplasia 2	Parietal foramina, Bifid nasal tip, Microcephaly, Aplasia of the nasal bone, Sparse hair, Cranios...	OMIM:613451
Peho Syndrome	Short nose, Hydrocephalus, Anteverted nares, Limitation of joint mobility, Biparietal narrowing, ...	ORPHA:2836
Mucopolysaccharidosis, Type Ii	Macrocephaly, Delayed eruption of teeth, Hydrocephalus, Tracheobronchomalacia, Split hand, Scapho...	OMIM:309900
Kniest Dysplasia	Macrocephaly, Fused cervical vertebrae, Enlarged metaphyses, Abnormal cartilage collagen, Delayed...	ORPHA:485
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Macrocephaly, Rhizomelia, Hydrocephalus, Wide anterior fontanel, Femoral bowing, Tibial bowing, F...	OMIM:616482
Mucopolysaccharidosis Type 1	Abnormal metaphysis morphology, Macrocephaly, Abnormal hip bone morphology, Hydrocephalus, Split ...	ORPHA:579
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Mandibular prog...	ORPHA:2916
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Mic...	OMIM:614091
Frontorhiny	Encephalocele, Midline nasal groove, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Camp...	ORPHA:391474
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Neuralgic Amyotrophy	Round face, Upper limb amyotrophy, Syndactyly, Scapular winging	ORPHA:2901
Houge-Janssens Syndrome 1	Macrocephaly, Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Deeply set eye, Hypert...	OMIM:616355
Tatton-Brown-Rahman Syndrome	Macrocephaly, Mandibular prognathia, Round face, Short toe, Thick eyebrow, Joint hypermobility, V...	ORPHA:404443
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Osteoporosis	ORPHA:2786
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Hypotelorism, Flexion contracture, Syndactyly	OMIM:619091
Laurence-Moon Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly, B...	ORPHA:2377
Macs Syndrome	Macrocephaly, Single transverse palmar crease, Osteoporosis, Micrognathia, Sparse eyebrow, Sparse...	OMIM:613075
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Mend Syndrome	Abnormal nasal bridge morphology, Hydrocephalus, Wide anterior fontanel, 2-3 toe syndactyly, Dand...	ORPHA:401973
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal	OMIM:604381
Tetrasomy 15Q26	Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Arachnodactyly, Microretrognathia, Hyper...	OMIM:614846
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Relative macrocephaly, Hypop...	OMIM:616300
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Abnormality of the nail, Metaphyseal cupping, Narrow iliac w...	OMIM:250420
Corpus Callosum, Partial Agenesis Of, X-Linked	Dislocated radial head, Ventriculomegaly, Microcephaly, Hydrocephalus	OMIM:304100
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Genu valgum, Cubitus valgus, Mandibular prognathia, Low posterior hairline, Joint hypermobility, ...	ORPHA:1778
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Wide distal femoral metaphysis, Wide nose, Delayed epiphyseal ossification, Metaphyse...	OMIM:613320
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Arachnodactyly, Slender long bones with narrow diaphyses, Dentinogenesis imperfecta, J...	ORPHA:536467
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Bowing of the legs, Hirsutism, Lower limb undergrowth, Brachydactyly	OMIM:612847
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse...	OMIM:226980
Jansen-De Vries Syndrome	Small nail, Parietal foramina, Anteverted nares, Brachydactyly, Short foot, Small hand	OMIM:617450
Proteus-Like Syndrome	Irregular hyperpigmentation, Macrocephaly, Hyperostosis, Anteverted nares, Mandibular prognathia,...	ORPHA:2969
Chops Syndrome	Short nose, Cervical C2/C3 vertebral fusion, Thick hair, Tracheomalacia, Anteverted nares, Round ...	OMIM:616368
Craniosynostosis And Dental Anomalies	Turricephaly, Proptosis, Trigonocephaly, Clinodactyly, Frontal bossing, Short phalanx of finger, ...	OMIM:614188
Trisomy 8Q	Deep palmar crease, Bone cyst, Myelomeningocele, Joint stiffness, Camptodactyly of finger, Microg...	ORPHA:1752
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Limitation of joint mobility, ...	OMIM:151200
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Dystrophic fingernails, Tarsal synostosi...	ORPHA:1657
Acrocallosal Syndrome	Prominent occiput, Bifid distal phalanx of the thumb, Postaxial hand polydactyly, Frontal bossing...	OMIM:200990
Nasu-Hakola Disease	Reduced bone mineral density, Hydrocephalus, Bone cyst, Limitation of joint mobility, Abnormal ep...	ORPHA:2770
Congenital Disorder Of Deglycosylation 2	Macrocephaly, Sandal gap, Highly arched eyebrow, Bilateral talipes equinovarus, Broad thumb, Micr...	OMIM:619775
Squalene Synthase Deficiency	Retrognathia, Slender long bone, 2-3 toe syndactyly, Elbow flexion contracture, Abnormality of ha...	OMIM:618156
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
X Small Rings	Reduced bone mineral density, Clinodactyly of the 5th finger, Upper limb undergrowth, Anteverted ...	ORPHA:96201
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Frontofacionasal Dysplasia	Brachycephaly, Short nose, Midline defect of the nose, Hypoplasia of the frontal bone, Bifid nose...	OMIM:229400
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat occiput, Clinodactyly of the 5th finger, Broad thumb, Micrognathia, Flat face, Hypertelorism	ORPHA:2001
Desmosterolosis	Abnormality of the nose, Retrognathia, Osteopetrosis, Macrocephaly, Short nose, Increased bone mi...	ORPHA:35107
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of ...	ORPHA:3320
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Trigonocephal...	ORPHA:1587
Alexander Disease	Progressive macrocephaly, Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Proptosis, ...	ORPHA:1507
Aplasia Cutis Congenita	Finger syndactyly, Abnormality of bone mineral density, Calvarial skull defect, Toe syndactyly	ORPHA:1114
Holoprosencephaly	Highly arched eyebrow, Anosmia, Microcephaly, Joint hypermobility, Absent nares, Cyclopia, Enceph...	ORPHA:2162
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Onychogryposis of toenails, 2-3 toe syndactyly, Sparse eyebrow, 3-4 finger syndactyly, Wide nasal...	OMIM:600906
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Ankle flexion contracture, Finger syndactyly, Single transverse palmar crease, Mandibular prognat...	ORPHA:435938
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Abnormal fingernail ...	ORPHA:1319
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Genu valgum, Abn...	ORPHA:93316
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Anosmia, Synophrys, Cutaneous finger syndactyly, Thick eyebrow, Wide nasal...	OMIM:210745
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Advanced eruption of teeth, Delayed eruption of teeth, Low hanging columella, Sing...	OMIM:619148
Brittle Cornea Syndrome 1	Macrocephaly, Red hair, Congenital hip dislocation, Dentinogenesis imperfecta, Joint hypermobilit...	OMIM:229200
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Brachydactyly	OMIM:619248
Adnp Syndrome	Sandal gap, Abnormal finger morphology, Trigonocephaly, Broad thumb, Microcephaly, Abnormal toe m...	ORPHA:404448
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Macrocephaly at birth, Occipital encephalocele, Ventriculomegaly, Hydrocephalus	ORPHA:324416
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Bird-like facies, Hyperpigmented nevi, Low posterior hairline, Microcephaly, Generali...	ORPHA:2959
19P13.12 Microdeletion Syndrome	Brachycephaly, Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Narrow nasal bridg...	ORPHA:254346
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Short nose, Hypoplastic fingernail, Anterior plagiocephaly, Shortening of all dist...	OMIM:614749
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Low...	OMIM:601358
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Long face, Proptosis, Scapular winging, Congenital finger flexion ...	OMIM:620351
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F...	OMIM:608940
Autosomal Dominant Robinow Syndrome	Retrognathia, Proptosis, Coxa valga, Hip dislocation, Anteverted nares, Micromelia, Frontal bossi...	ORPHA:3107
Icf Syndrome	Macrocephaly, Communicating hydrocephalus, Micrognathia, Flat face, Hypertelorism, Depressed nasa...	ORPHA:2268
Infantile Systemic Hyalinosis	Osteopenia, Macrocephaly, Hyperpigmentation of the skin, Osteoporosis, Micromelia, Joint stiffnes...	ORPHA:2176
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Breast hypoplasia, Rocker bottom foot, Short nose, Camptodactyly, Long eyelashes, ...	OMIM:601353
Baller-Gerold Syndrome	Limited elbow movement, Turricephaly, Carpal bone aplasia, Oligodactyly, Brachyturricephaly, Shor...	OMIM:218600
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, Turricephaly, Talipes equinovarus, Highly arched eyebrow, S...	OMIM:272950
Geroderma Osteodysplasticum	Osteopenia, Abnormal hair morphology, Hyperextensibility of the finger joints, Mandibular prognat...	OMIM:231070
1Q21.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Broad thumb, Frontal bossing, Foot polydactyly, Ha...	ORPHA:250989
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Proptosis, Decreased...	ORPHA:3472
Marinesco-Sjögren Syndrome	Abnormal metacarpal morphology, Abnormal finger morphology, Microcephaly, Short palm, Brachydacty...	ORPHA:559
Edinburgh Malformation Syndrome	Frontal hirsutism, Hydrocephalus	OMIM:129850
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Kbg Syndrome	Brachycephaly, Radial deviation of finger, Triangular face, Clinodactyly of the 5th finger, Antev...	OMIM:148050
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Cone-shaped epiphyses of the phalanges of the hand, Delayed epiphyseal ossification, ...	OMIM:618618
Hajdu-Cheney Syndrome	Dislocated radial head, Crowded carpal bones, Pathologic fracture, Joint hypermobility, Foot acro...	OMIM:102500
Momo Syndrome	Brachycephaly, Abnormal bone ossification, Macrocephaly, Wide nasal base, Delayed eruption of tee...	ORPHA:2563
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic...	ORPHA:246
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	High anterior hairline, Macrocephaly, Clinodactyly of the 5th finger, Anteverted nares, Sparse sc...	ORPHA:477993
Cardiospondylocarpofacial Syndrome	Short palm, Failure of eruption of permanent teeth, Synostosis of carpal bones, Brachydactyly	ORPHA:3238
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Brachydactyly, Sho...	ORPHA:2150
Spastic Paraplegia 20, Autosomal Recessive	Hammertoe, Short foot, Camptodactyly, Ulnar deviation of the hand, Flexion contracture, Brachydac...	OMIM:275900
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Increased arm span, Abnormal bone ossification, Abnormal columella morphology, Thin m...	ORPHA:2463
Adams-Oliver Syndrome	Hypoplastic fingernail, Abnormal metacarpal morphology, Encephalocele, Aplastic/hypoplastic toena...	ORPHA:974
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Micrognathia, Joint cont...	OMIM:225790
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Mosaic Trisomy 1	Rocker bottom foot, Small nail, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th toe...	ORPHA:1692
Joubert Syndrome With Oculorenal Defect	Encephalocele, Highly arched eyebrow, Long face, Anteverted nares, Hydrocephalus, Biparietal narr...	ORPHA:2318
Elsahy-Waters Syndrome	Cervical C2/C3 vertebral fusion, Bifid nasal tip, Proptosis, Impacted tooth, Agenesis of incisor,...	OMIM:211380
3P25.3 Microdeletion Syndrome	Brachycephaly, Proximal placement of thumb, Anteverted nares, Mandibular prognathia, Broad thumb,...	ORPHA:435638
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,...	OMIM:601438
Oliver Syndrome	Clinodactyly of the 5th finger, Hyperconvex fingernails, Mandibular prognathia, Elbow flexion con...	ORPHA:2920
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Paranasal sinus hypoplasia, Arachnodactyly, Craniofacial osteoscleros...	OMIM:300373
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext...	ORPHA:239
Mal De Meleda	Fragile nails, Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Banki Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo...	ORPHA:1228
Carey-Fineman-Ziter Syndrome	Short nose, Aplasia of the pectoralis major muscle, Anteverted nares, Microcephaly, Micrognathia,...	ORPHA:1358
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:2928
10Q22.3Q23.3 Microdeletion Syndrome	Macrocephaly, Hypotelorism, Breast aplasia, Anteverted nares, Microcephaly, Frontal bossing, Arac...	ORPHA:276413
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Talipes equinovarus, Hyperextensibility of the finger joints, Mandibular prognathi...	OMIM:309583
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Macrocephaly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial ...	OMIM:615503
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplasti...	OMIM:617925
Van Maldergem Syndrome 2	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Short fourth metatarsal, Ulnar deviation...	OMIM:615546
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Aplasti...	OMIM:228900
Adult Syndrome	Breast hypoplasia, Toenail dysplasia, Abnormality of the nail, Finger syndactyly, Hypoplastic nip...	ORPHA:978
Blepharonasofacial Malformation Syndrome	Wide nose, Finger syndactyly, Abnormal eyelash morphology, Low posterior hairline, Sparse lateral...	ORPHA:1252
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Bowed humerus, Short long bone, Frontal bossing, Short humerus, Depressed nasal bridge, Flexion c...	OMIM:619479
7Q11.23 Microduplication Syndrome	Retrognathia, Round face, Joint hypermobility, Ventriculomegaly, Craniosynostosis, Abnormal colum...	ORPHA:96121
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Marshall Syndrome	Small proximal tibial epiphyses, Irregular femoral epiphysis, Irregular proximal tibial epiphyses...	OMIM:154780
Hydrolethalus	Retrognathia, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Micromelia, Micrognathia, A...	ORPHA:2189
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Turricephaly, Cone-shaped epiphyses of the phalanges of the hand, S...	OMIM:250220
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Prominent occiput, Round face, Femoral bowing, Bifid first metacarpal, Short...	OMIM:210710
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Absent eyebrow, Sparse ...	ORPHA:2890
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Long nose, Short nose, Slender long bone, Hydrocephalus, Long face, Depressed nasal b...	OMIM:618590
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Joint hypermobility, Long fa...	OMIM:618050
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Short distal phalanx of f...	ORPHA:989
Roifman-Chitayat Syndrome	Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Abnormal facial shape, Ventriculomegal...	OMIM:613328
Robinow Syndrome	Nail dysplasia, Mesomelic arm shortening, Acromesomelia, Small nail, Proptosis, Bifid distal phal...	ORPHA:97360
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Acetabular dysplasia, Genu valgum, Macrocephaly, Talipes equinovaru...	OMIM:253220
Joubert Syndrome	Encephalocele, Highly arched eyebrow, Long face, Anteverted nares, Hydrocephalus, Biparietal narr...	ORPHA:475
White-Sutton Syndrome	Brachycephaly, Mandibular prognathia, Depressed nasal tip, Broad thumb, Microcephaly, Micrognathi...	OMIM:616364
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Wide nose, Abnormal eyelash morphology, Depressed nasal tip, Hypo...	ORPHA:2399
Alpha-Mannosidosis, Infantile Form	Highly arched eyebrow, Proptosis, Joint stiffness, Joint hypermobility, Craniosynostosis, Osteoly...	ORPHA:309282
Achondrogenesis, Type Ii	Brachycephaly, Short tubular bones of the hand, Hypoplastic iliac wing, Short long bone, Frontal ...	OMIM:200610
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Ridged nail, Hypopigmentation of the skin, Short metacarpal, Myel...	OMIM:305600
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Hydrocephalus, Microcephaly, Enamel hypoplasia, Postaxial polydactyly, Hip dysplasi...	OMIM:614576
Distal Triplication 15Q	Retrognathia, Hydrocephalus, Dandy-Walker malformation, Camptodactyly, Abnormal facial shape, Ara...	ORPHA:314588
Cohen Syndrome	Abnormal hip bone morphology, Sandal gap, Arachnodactyly, Joint hypermobility, Abnormality of ret...	ORPHA:193
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, Tibial bowing, Postaxial hand polydactyly, Central Y...	OMIM:277170
Carpenter Syndrome 2	Retrognathia, Highly arched eyebrow, Trigonocephaly, Broad thumb, Narrow naris, Craniosynostosis,...	OMIM:614976
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Turricephaly, Prominent occiput, Highly arched eyebrow, Round face, Prominent fingertip pads, Bro...	OMIM:612474
Meester-Loeys Syndrome	Broad distal phalanx of finger, Relative macrocephaly, Proptosis, Camptodactyly, Frontal bossing,...	OMIM:300989
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Secondary microcephaly, Retrognathia, Tracheomalacia, Hypoplasia of teeth, Sparse eyebrow, Microg...	OMIM:620654
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Postaxial foot p...	OMIM:617405
Cantú Syndrome	Abnormal metaphysis morphology, Curly eyelashes, Short hallux, Finger syndactyly, Anteverted nare...	ORPHA:1517
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Macrocephaly, Hydrocephalus, Postaxial polydactyly, Frontal bossing, Knee flexion contracture, Ve...	OMIM:603387
Maternal Phenylketonuria	Deviated nasal septum, Hypotelorism, Anteverted nares, Abnormal facial shape, Microcephaly, Micro...	ORPHA:2209
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Oval face, Dislocated radial head, Short long bone, Large iliac w...	OMIM:271640
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Proptosis, Microcephaly, Sparse hair, Joint hypermobility, Ventriculomegaly, Long face, Anteverte...	OMIM:300966
Mosaic Trisomy 8	Hypopigmented skin patches, Deep palmar crease, Clinodactyly of the 5th finger, Wide nose, Long f...	ORPHA:96061
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Macrocephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Frontal boss...	OMIM:614643
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus, Micrognathia, Dolichocephaly, Short nasal bridge, Malar flattening, S...	OMIM:130720
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Progressive microcephaly, Single transverse palmar crease, Hirsutism, Hypopigmenta...	OMIM:614969
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Short long bone, ...	OMIM:615630
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Long face, Abnormality of hair textu...	ORPHA:96169
Meckel Syndrome 14	Retrognathia, Anteverted nares, Postaxial hand polydactyly, Bowing of the long bones, Decreased c...	OMIM:619879
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Osteopenia, Subperiosteal bone formation, Anteverted nares, Femoral bowing, Short ...	OMIM:618188
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Finger syndactyly, Short palm, Sparse eyebrow, Arachnodactyly, Toe syndactyly	ORPHA:73246
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hydrocephalus, Triceps weakn...	ORPHA:99947
Stromme Syndrome	Preaxial polydactyly, Hydrocephalus, Microcephaly, Micrognathia, Prominent nasal bridge, Deeply s...	OMIM:243605
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Small nail, Epiphyseal stippling, Absent toe, Fi...	OMIM:308050
Baller-Gerold Syndrome	Brachycephaly, Short nose, Abnormal carpal morphology, Hypotelorism, Abnormal metacarpal morpholo...	ORPHA:1225
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Sparse hair, Fine hair, Clinodactyly, Narrow nose, Hip dislo...	OMIM:164200
Mosaic Variegated Aneuploidy Syndrome 1	Brachycephaly, Short nose, Wide nose, Hydrocephalus, Anteverted nares, Dandy-Walker malformation,...	OMIM:257300
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Sparse hair, Absent eyelashes, Osteoporosis, Sparse ey...	OMIM:268400
Satoyoshi Syndrome	Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,...	OMIM:600705
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Monosomy 18Q	Talipes equinovarus, Hydrocephalus, Mandibular prognathia, Biparietal narrowing, Prominent nose, ...	ORPHA:1600
Joubert Syndrome With Renal Defect	Encephalocele, Highly arched eyebrow, Long face, Anteverted nares, Hydrocephalus, Biparietal narr...	ORPHA:220497
Frontometaphyseal Dysplasia	Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr...	ORPHA:1826
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Opsismodysplasia	Short nose, Macrocephaly, Rhizomelia, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nar...	OMIM:258480
Hurler Syndrome	Abnormal diaphysis morphology, Abnormality of the elbow, Hydrocephalus, Anteverted nares, Limitat...	ORPHA:93473
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Flared metaphysis, Hyperextensibility of the finger joints, Mandibula...	OMIM:151050
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Syndactyly, Brachydactyly	OMIM:610023
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Hip subluxation, Osteopetrosis, Flared metaphysis, Increased bone mineral d...	OMIM:259720
Congenital Toxoplasmosis	Microcephaly, Ventriculomegaly, Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:858
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Wide nose, Absent palmar crease, Finger syndactyly, Round face, A...	ORPHA:284160
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Small nail, ...	OMIM:140000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Brachycephaly, Plagiocephaly, Hydrocephalus, Relative macrocephaly, Dilated third ventricle, Abno...	ORPHA:500055
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Microcephaly, Epistaxis, Sparse hair, Mild fetal ventriculomegaly, Joint h...	OMIM:619841
Wiedemann-Rautenstrauch Syndrome	Small nail, Narrow nasal ridge, Proptosis, Hypoplastic facial bones, Short humerus, Long toe, Cli...	OMIM:264090
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Retrognathia, Short nose, Cubitus valgus, Short metatarsal, Anteverted nares, Shor...	OMIM:617157
Lissencephaly 5	Hydrocephalus, Occipital encephalocele, Macrocephaly	OMIM:615191
Alg6-Cdg	Abnormal facial shape, Shortening of all distal phalanges of the fingers, Hypertelorism, Brachyda...	ORPHA:79320
Fontaine Progeroid Syndrome	Retrognathia, Turricephaly, Small nail, Proptosis, Low posterior hairline, Microcephaly, Syndacty...	OMIM:612289
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Proptosis, Depressed nasal ridge, Spina bifida, Microcepha...	OMIM:616038
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Short sternum, Hyperconvex nail, Bulbous nose, H...	OMIM:258850
Angelman Syndrome Due To A Point Mutation	Secondary microcephaly, Hypopigmentation of hair, Mandibular prognathia, Hypopigmentation of the ...	ORPHA:411511
Okur-Chung Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Highly arched eyebrow, Anteverted nares, Single transverse palmar...	OMIM:617062
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Sandal gap, Hydrocephalus, Anteverted nares, Prominent fingertip p...	OMIM:612863
Mucolipidosis Ii Alpha/Beta	Short long bone, Hypopigmentation of the skin, Flat acetabular roof, Flared iliac wing, Trigonoce...	OMIM:252500
Limb-Mammary Syndrome	Nail dysplasia, Hypoplastic nipples, Split hand, Camptodactyly, Split foot, Syndactyly, Hallux va...	OMIM:603543
Chromosome 8Q21.11 Deletion Syndrome	Underdeveloped nasal alae, Round face, Short metacarpal, Camptodactyly, Micrognathia, Syndactyly,...	OMIM:614230
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Aymé-Gripp Syndrome	Rocker bottom foot, Shallow orbits, Craniosynostosis, Ventriculomegaly, Reduced arm span, Breast ...	ORPHA:1272
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Angulated humerus, Short long bone, Bowing of the long bones, Decreased c...	OMIM:616229
Osteogenesis Imperfecta	Abnormal femur morphology, Reduced bone mineral density, Abnormal hip bone morphology, Prominent ...	ORPHA:666
Joubert Syndrome With Ocular Defect	Encephalocele, Highly arched eyebrow, Long face, Anteverted nares, Hydrocephalus, Biparietal narr...	ORPHA:220493
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Macrocephaly, Flared metaphysis, Increased bone mineral density, Anteverted nares, Relative macro...	OMIM:620558
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Low insertion of columella, Progressive...	ORPHA:79328
Ring Chromosome 21 Syndrome	Multiple cafe-au-lait spots, Narrow palm, Abnormal facial shape, Syndactyly, Fused thoracic verte...	ORPHA:1445
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon...	OMIM:143095
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Osteopenia, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Round face, Short metatarsal, Type E brachydactyly	OMIM:113301
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Shallow orbits, Microcephaly, Arachnodac...	OMIM:613406
Mgat2-Cdg	Osteopenia, Low hanging columella, Progressive microcephaly, Hirsutism, Hypoplastic nipples, Long...	ORPHA:79329
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Joint stiffness, Holoprosencephaly, Adducted thumb, Coarse fa...	ORPHA:2182
Toriello-Carey Syndrome	Short nose, Wide anterior fontanel, Dandy-Walker malformation, Microcephaly, Sparse eyebrow, Micr...	ORPHA:3338
Emanuel Syndrome	Broad jaw, Delayed eruption of teeth, Low hanging columella, Hydrocephalus, Dandy-Walker malforma...	ORPHA:96170
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormality of the nail, Finger syndactyly, Split hand, Choanal atresia, Joint stiffness, Microgn...	ORPHA:1300
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Hydrocephalus, Abnormal dental enamel morphology, Yellow-brown discolora...	ORPHA:1946
Cerebrofacioarticular Syndrome	Osteopenia, Caudal appendage, Bilateral choanal atresia/stenosis, Tracheomalacia, Camptodactyly, ...	ORPHA:314679
Joubert Syndrome 14	Encephalocele, Meningocele, Highly arched eyebrow, Hydrocephalus, Dandy-Walker malformation, Post...	OMIM:614424
2,4-Dienoyl-Coa Reductase Deficiency	Increased CSF lysine concentration, Hydrocephalus, Increased CSF lactate, Microcephaly, Colpoceph...	OMIM:616034
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Abnormality of the nose, Clinodactyly of...	ORPHA:999
Cranioectodermal Dysplasia 2	Retrognathia, Mesomelia, Syndactyly, Sparse hair, Joint hypermobility, Craniosynostosis, Clinodac...	OMIM:613610
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Macrocephaly, Triangular face, Broad eyebrow, Long face, Mandibular prognathia, Limitation of joi...	ORPHA:457359
Cinca Syndrome	Reduced bone mineral density, Macrocephaly, Proptosis, Frontal bossing, Brachydactyly	ORPHA:1451
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Short iliac bones, Rhizomelia, Broad long bone diaphyses, Acetabular spurs, Metaphyseal widening,...	OMIM:614376
Distal Deletion 9P	Short nose, Proptosis, Trigonocephaly, Brachydactyly, Hypertelorism, Wide nasal bridge	ORPHA:1642
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Wide nasal base, Wide nasal bridge, Bilateral talipes equinovarus	OMIM:616521
Holoprosencephaly 9	Agenesis of incisor, Short nose, Single naris, Hypotelorism, Alobar holoprosencephaly, Hydrocepha...	OMIM:610829
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Clinodactyly of the 5th finger, Hyperconvex fingernails, Delayed eruption...	ORPHA:1071
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	High anterior hairline, Sandal gap, Short 2nd finger, Highly arched eyebrow, 2-3 toe syndactyly, ...	OMIM:600987
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Secondary microcephaly, Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Trigonocephal...	OMIM:266920
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Talipes equinovarus, Round face, Proptosis, Sparse scalp hair, Camp...	OMIM:620029
Developmental And Epileptic Encephalopathy 95	Short 4th metacarpal, Long nose, Clinodactyly of the 5th finger, Multiple joint contractures, Hig...	OMIM:618143
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Abnormal nostril morphology, Branchial anomaly, Single transverse palmar crease, Hirsutism, Promi...	ORPHA:466950
Costello Syndrome	Limited elbow movement, Sparse hair, Concave nail, Ventriculomegaly, Deep palmar crease, Hydrocep...	OMIM:218040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microcephaly, Flexion contracture, Hydrocephalus	OMIM:613155
Barber-Say Syndrome	Clinodactyly of the 5th finger, Wide nose, Delayed eruption of teeth, Talipes equinovarus, Anteve...	OMIM:209885
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Proximal radio-ulnar synostosis, Round face, Abnormal facial shape, Joint stiffnes...	ORPHA:2062
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal metacarpal morphology, Abnormal dental enamel morphology, Abnor...	ORPHA:3194
Cree Mental Retardation Syndrome	Brachycephaly, Rocker bottom foot, Triangular face, Cutaneous finger syndactyly, Micrognathia, Hy...	OMIM:606851
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Microcephaly, Hydrocephalus, Secondary microcephaly	OMIM:615599
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Hydrocephalus, Anteverted nares, Postaxial polydac...	ORPHA:457284
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Abnormal nasopharynx morphology, ...	OMIM:607323
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Highly arched eyebrow, Parietal foramina, Dislocate...	OMIM:180849
Joubert Syndrome 2	Macrocephaly, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Frontal bossing, Dolichoc...	OMIM:608091
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Plagiocephaly, Short nose, Wide anterior fontanel, Eruption fa...	OMIM:230740
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
3Mc Syndrome 1	Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Spina bifida occul...	OMIM:257920
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint hypermobility, Hydrocephalus	OMIM:236660
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Macrocephaly, Hydrocephalus, Communicating hydrocephalus, Abnormal facial shape, Frontal bossing,...	OMIM:615219
Combined Oxidative Phosphorylation Deficiency 2	Mild fetal ventriculomegaly, Brachydactyly	OMIM:610498
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Broad lateral eyebrow, Anteverted nares, Underdeveloped nasal alae, Long eyelashes, Frontal bossi...	OMIM:608624
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ...	ORPHA:85167
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Diabetic Embryopathy	Hydrocephalus, Microcephaly, Frontal bossing, Micrognathia, Spinal dysraphism	ORPHA:1926
Coffin-Siris Syndrome 12	Small nail, Highly arched eyebrow, Microcephaly, Broad thumb, Noncommunicating hydrocephalus, Joi...	OMIM:619325
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Acetabular dysplasia, Small nail, Mandibular prognathia, Long eyebrows, Short meta...	OMIM:201180
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Hypoplastic ilia, M...	ORPHA:93296
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Hydrocephalus, Brachyturricephaly, Frontal bossing, Abnormal shape of the occiput,...	OMIM:218350
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Proptosis, Wrist flexion contracture, Shallow orbits, Microcephaly, S...	OMIM:268300
Arboleda-Tham Syndrome	Sandal gap, Highly arched eyebrow, Bifid nasal tip, Proptosis, Microcephaly, Upper limb amyotroph...	OMIM:616268
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Short long bone, Brachydactyly	OMIM:615633
Cohen-Gibson Syndrome	Osteopenia, Retrognathia, Macrocephaly, Thin nail, Small nail, Flared metaphysis, Hypoplastic ili...	OMIM:617561
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Anteverted nares, Communicating hydrocephalus, Frontal bossing, Micrognathia, Craniosynostosis, D...	ORPHA:1064
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macrocephaly	OMIM:300886
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Proptosis, Microcephaly, Mesomelia, Ventriculomegaly, Hip dislocatio...	ORPHA:818
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Talipes equ...	OMIM:619859
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, Short nose, Proportionate shortening of all digits, Hypoplastic fingernail...	ORPHA:280633
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Overlapping fingers, Finger syndactyly, Anteverted nares, Mandibular prognathia, Pr...	ORPHA:464738
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Short nose, Advanced eruption of teeth, Clinodactyly of the 5th finger, Highly arc...	ORPHA:1519
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Macrocephaly, Reduced bone mineral density, Delaye...	ORPHA:667
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Communicating hydrocephalus, Micrognathia, Bulbous nose, Wide nas...	ORPHA:1237
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Short toe, Coarse facial features, Brachydactyly	ORPHA:3085
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Sparse scalp hair, Sparse eyebrow, Hypertelorism, Wide nasal bridge	ORPHA:66629
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Macrocephaly, Cyclopia, Proboscis, Alobar holoprosenceph...	OMIM:619895
Adams-Oliver Syndrome 6	Foot oligodactyly, Syndactyly, Brachydactyly, Hypoplastic toenails, Calvarial skull defect	OMIM:616589
Floating-Harbor Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Generalized hypertric...	OMIM:136140
Fanconi Anemia	Irregular hyperpigmentation, Abnormal femur morphology, Reduced bone mineral density, Abnormality...	ORPHA:84
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum...	ORPHA:957
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Bardet-Biedl Syndrome 9	Polydactyly, Bone spicule pigmentation of the retina, Postaxial hand polydactyly, Postaxial polyd...	OMIM:615986
Pseudohypoparathyroidism Type 1A	Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Delayed eruption of teeth, ...	ORPHA:79443
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Round face, Short metaca...	OMIM:261540
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Plagiocephaly, Normal pressure hydrocephalus, Genu valgum, Macrocephaly, Cubitus valgus, Metatars...	ORPHA:300570
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Anteverted nares, Single transv...	OMIM:311900
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand...	OMIM:611134
Bardet-Biedl Syndrome 17	Polydactyly, Bone spicule pigmentation of the retina, Mesoaxial polydactyly, Hyposmia, Postaxial ...	OMIM:615994
14Q22Q23 Microdeletion Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of ...	ORPHA:264200
Alexander Disease Type I	Progressive macrocephaly, Hydrocephalus	ORPHA:363717
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Hypoplastic pelvis, Microcephaly, Sparse hair, Delaye...	OMIM:133540
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Dandy-Walker malformation, Abnormal facial shape, Holoprosencepha...	OMIM:617967
Alg12-Cdg	Abnormal bone ossification, Proximal placement of thumb, Sandal gap, Small nail, Progressive micr...	ORPHA:79324
Ellis-Van Creveld Syndrome	Nail dysplasia, Genu valgum, Talipes equinovarus, Delayed eruption of teeth, Hypoplastic iliac wi...	OMIM:225500
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Hip dislocation, Long fac...	OMIM:265000
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Osteoporosis, Microcephaly, Syndactyly, Ventriculomegaly, Clinodactyly	ORPHA:2169
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Taurodontia, Postaxial hand polydactyly, Talo...	ORPHA:2751
Bartsocas-Papas Syndrome 1	Small nail, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Abs...	OMIM:263650
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Secondary microcephaly, Hypopigmentation of hair, Mandibular prognathia, Hypopigmentation of the ...	ORPHA:98795
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Round face, Proptosis, Microcephaly, Fibu...	ORPHA:444077
Toriello-Lacassie-Droste Syndrome	Short nose, Macrocephaly, Anteverted nares, Proptosis, Abnormal facial shape, Short palm, Brachyd...	ORPHA:3339
Pallister-Hall Syndrome	Nail dysplasia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda...	OMIM:146510
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Short metatarsal, Delayed eruption of teeth, Increased bone mineral density...	ORPHA:79444
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Abnormal pelvic girdle bone morphology, Micrognathia, Facial asymmetry, Hypertelorism	ORPHA:1834
47,Xyy Syndrome	Macrocephaly, Finger clinodactyly, Hydrocephalus, Malar flattening, Hypertelorism	ORPHA:8
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Secondary microcephaly, Hypopigmentation of hair, Mandibular prognathia, Hypopigmentation of the ...	ORPHA:98794
Monosomy 9Q22.3	Polydactyly, Short nose, Macrocephaly, Palmar pits, Delayed eruption of teeth, Hydrocephalus, Tri...	ORPHA:77301
Geleophysic Dysplasia 3	Limited elbow movement, Anteverted nares, Round face, Epiphyseal dysplasia, Limb undergrowth, Bra...	OMIM:617809
Craniofacioskeletal Syndrome	Triangular face, Clinodactyly of the 5th finger, Narrow iliac wing, Choanal atresia, Hypoplastic ...	OMIM:300712
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cyclopia, Hypotelorism, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Microcephaly, M...	ORPHA:2166
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Mandibular prognathia, Short long bone, Split hand, Limitation of joint m...	OMIM:252600
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Hypoplastic pelvis, Microcephaly, Sparse hair, Ventri...	OMIM:216400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Broad 2nd toe, Sparse hair, Fine hair, Clinodactyly, Camptodactyly, Sparse...	OMIM:280000
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy, Freckling, Hypoplastic toenails	ORPHA:1547
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Split hand, Proptosis, Long eyelashes, Split f...	ORPHA:2008
Monosomy 22	Retrognathia, Clinodactyly of the 5th finger, Wide nose, Prominent occiput, Finger syndactyly, Si...	ORPHA:96123
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Choanal atresia, Congenital hip dislocation, Mi...	OMIM:263750
Waardenburg Syndrome, Type 1	Premature graying of hair, Mandibular prognathia, Underdeveloped nasal alae, Heterochromia iridis...	OMIM:193500
Multiple Sulfatase Deficiency	Hydrocephalus, Anteverted nares, Increased CSF protein concentration, Broad thumb, Broad hallux, ...	OMIM:272200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Hypopigmentation of hair, Single transverse palmar crease, Hypopigmentation of the...	OMIM:618541
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Myoclonic-Astatic Epilepsy	Frontal balding, Anteverted nares, Thick nasal alae, Abnormal facial shape, Syndactyly, Wide nasa...	ORPHA:1942
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Dandy-Walker malformation, Long eyelashes, Microcephaly, Frontal bossing, Thick ey...	OMIM:617281
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation, Abnormal facial shape, Hypertelorism, Wide nasal bridge	ORPHA:79332
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus, Mandibular prognathia, Hypoplasia of the maxilla, Hypertelorism, Wide nasal bridge	OMIM:601499
Alg8-Cdg	Camptodactyly, Abnormal facial shape, Brachydactyly, Ventriculomegaly, Hypertelorism, Talipes equ...	ORPHA:79325
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Delayed eruption of teeth, Hyperpigmentatio...	ORPHA:3214
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Triangular face, Clinodactyly of the 5th finger, Relative macrocephaly, Abnormal facial shape, Fr...	ORPHA:96182
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Fused cervical vertebrae, Brachydactyly	ORPHA:1436
Tolchin-Le Caignec Syndrome	Triangular face, Clinodactyly of the 5th finger, Prominent occiput, Long face, Hirsutism, Arachno...	OMIM:618971
Mesomelia-Synostoses Syndrome	Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti...	OMIM:600383
Meier-Gorlin Syndrome 7	Bowing of the legs, Copper beaten skull, Breast aplasia, Dislocated radial head, Wide anterior fo...	OMIM:617063
Radio-Renal Syndrome	Retrognathia, Hypoplasia of the radius, Micromelia, Short palm, Micrognathia, Brachydactyly, Abno...	ORPHA:3015
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Proptosis, Short humerus, Shor...	OMIM:309350
Fraser Syndrome 1	Small nail, Myelomeningocele, Microcephaly, Aplasia/Hypoplasia of the phalanges of the hand, Calv...	OMIM:219000
Rin2 Syndrome	Hirsutism, Sparse scalp hair, Brachydactyly, Joint hypermobility, Coarse facial features, Increas...	ORPHA:217335
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Short nose, Hypopigmentation of hair, Anteverted nares, Dandy-Walker m...	ORPHA:2719
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Deeply set eye, Synophrys	ORPHA:261272
Oculocerebral Hypopigmentation Syndrome, Preus Type	Reduced bone mineral density, Abnormal hip bone morphology, Hydrocephalus, Generalized hypopigmen...	ORPHA:2720
Weill-Marchesani Syndrome	Limitation of joint mobility, Short thumb, Brachydactyly	ORPHA:3449
Holt-Oram Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormality o...	ORPHA:392
Congenital Syphilis	Periostitis, Hydrocephalus, Tibial bowing, Notched primary central incisor, CSF pleocytosis, Syno...	ORPHA:499009
Grange Syndrome	Short palm, Syndactyly, Increased susceptibility to fractures	ORPHA:79094
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Joint stiffness, Adenoiditis, Ventriculomegaly, Craniofacial hypero...	ORPHA:581
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Triphalangeal thumb, Abnormal metacarpal morphology, Mandibular pro...	ORPHA:2673
Coffin-Lowry Syndrome	Hyperconvex fingernails, Highly arched eyebrow, Short metacarpal, Microcephaly, Thick nasal septu...	OMIM:303600
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Inguinal freckling, Abnormality of the sphenoid sinus, Abnormal tibia morphology, Genu valgum, Ma...	ORPHA:363700
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Abnormal hair morphology	ORPHA:64754
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Anteverted nares, Depressed nasal ridge, Joint stiffness, Microce...	ORPHA:847
Acrodysplasia Scoliosis	Brachydactyly, Spina bifida occulta	ORPHA:2956
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp...	ORPHA:93322
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Mycophenolate Mofetil Embryopathy	Tracheomalacia, Hydrocephalus, Foot polydactyly, Short palm, Micrognathia, Bifid nose, Hypoplasti...	ORPHA:268249
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Macrocephaly, Highly arched eyebrow, Long face, Anteverted nares, Hydroc...	ORPHA:1454
Camptodactyly Syndrome, Guadalajara, Type Iii	Retrognathia, Absent phalangeal crease, Camptodactyly, Malar flattening, Flat face, Small hypothe...	OMIM:611929
Diencephalic Syndrome	Hydrocephalus, Large hands	ORPHA:1672
Bloom Syndrome	Clinodactyly of the 5th finger, Hypopigmentation of the skin, Narrow face, Cafe-au-lait spot, Han...	OMIM:210900
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndactyly, Postaxial po...	OMIM:217085
Basal Cell Nevus Syndrome 2	Hydrocephalus, Frontal bossing, Macrocephaly, Palmar pits	OMIM:620343
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ...	ORPHA:198
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Incontinentia Pigmenti	Irregular hyperpigmentation, Broad nail, Osteolysis, Abnormal hair morphology, Abnormality of the...	ORPHA:464
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly, Pigmentary retinopathy	OMIM:600151
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Rudimentary fibula, Finger syndactyly, Split ha...	ORPHA:958
Mend Syndrome	Polydactyly, Hydrocephalus, Dandy-Walker malformation, 2-3 toe syndactyly, Micrognathia, Long fin...	OMIM:300960
Wrinkly Skin Syndrome	Progressive microcephaly, Microcephaly, Sparse hair, Joint hypermobility, Deep palmar crease, Car...	OMIM:278250
Nivelon-Nivelon-Mabille Syndrome	Nail dysplasia, Short metacarpal, Micromelia, Microcephaly, Short phalanx of finger, Brachydactyly	OMIM:600092
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Dolichocephaly, Clubbing of ...	ORPHA:1318
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Micrognath...	ORPHA:3301
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Finger syndactyly, Proptosis, Depressed nasal ridge, Broad thumb, Abnormal toenail...	ORPHA:2211
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Hydrocephalus, Absent nipple, Congenital hip dislocation, Syndactyly, Hypertelori...	OMIM:104350
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Triangular face, Hammertoe, Tracheomalacia, Highly arched eyebrow, Anteverted nares, Mandibular p...	OMIM:620371
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Anencephaly, Microcephaly, Syndactyly, Ventr...	OMIM:249000
Gracile Bone Dysplasia	Slender long bone, Hydrocephalus, Flared metaphysis, Decreased skull ossification, Brachydactyly	OMIM:602361
Iniencephaly	Rocker bottom foot, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformat...	ORPHA:63259
Griscelli Syndrome	Premature graying of hair, Hypopigmented skin patches, Encephalocele, Silver-gray hair, Hydroceph...	ORPHA:381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Increased CSF lactate, Abnormal facial shape, Hypopigmentation of hair	ORPHA:70472
Congenital Sialidosis Type 2	Polydactyly, Macrocephaly, Hydrocephalus, Generalized hypertrichosis, Coarse facial features	ORPHA:93400
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Clinodactyly of the 5th finger, Hypotelorism, Breast aplasia, Finger syndactyly, ...	OMIM:181270
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing...	OMIM:613091
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Lateral ventricle dilatati...	OMIM:602200
Fanconi Anemia, Complementation Group R	Microcephaly, Radial dysplasia, Absent thumb, Hydrocephalus	OMIM:617244
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Syndactyly, Hypertelorism, Wide nasal bridge, Depressed nasal bridge	OMIM:616430
Myhre Syndrome	Abnormal metaphysis morphology, Craniofacial hyperostosis, Mandibular prognathia, Large iliac win...	ORPHA:2588
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Macrocephaly, Anteverted nares, Proptosis, 3-4 finger syndactyly, Broad isc...	OMIM:619727
Eec Syndrome	Nail dystrophy, Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Slow-growing hair, ...	ORPHA:1896
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Degcags Syndrome	Premature graying of hair, Retrognathia, Hypopigmentation of the skin, Proptosis, Low posterior h...	OMIM:619488
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Frontal bossing, Abnormal femoral epiphysis morphology, Triangular face, Brachydactyly	ORPHA:3218
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Lethal Congenital Contracture Syndrome 9	Triangular face, Talipes equinovarus, Anteverted nares, Wrist flexion contracture, Congenital con...	OMIM:616503
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly of the 5th finger, Small...	OMIM:608670
Mucopolysaccharidosis Type 2	Macrocephaly, Hip osteoarthritis, Wide nose, Flexion contracture of digit, Otosclerosis, Temporom...	ORPHA:580
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Tibial bowing, ...	ORPHA:93315
Lymphedema-Hypoparathyroidism Syndrome	Brachydactyly, Increased carrying angle, Wide nasal bridge, Hypertrichosis	OMIM:247410
Poland Syndrome	Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Reduced bo...	ORPHA:2911
Dahlberg-Borer-Newcomer Syndrome	Generalized hirsutism, Brachydactyly, Anonychia, Short distal phalanx of finger, Wide nasal bridge	ORPHA:1563
Weill-Marchesani Syndrome 3	Joint stiffness, Brachydactyly	OMIM:614819
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Cubitus valgus, Facial hirsutism, Hirsutism, Synophrys, ...	ORPHA:247768
Osteopetrosis, Autosomal Recessive 7	Increased head circumference, Femur fracture, Osteopetrosis, Hydrocephalus, Proptosis, Abnormal t...	OMIM:612301
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Anteverted nares, Single transverse palmar crease, Postaxi...	ORPHA:2886
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Slender long bone, Hydrocephalus, Proptosis, Wrist flexion contracture, Ulnar...	OMIM:208150
Genitopatellar Syndrome	Prominent nose, Knee flexion contracture, Delayed eruption of teeth, Wide nose, Sparse scalp hair...	OMIM:606170
Aase-Smith Syndrome I	Hydrocephalus, Dandy-Walker malformation, Slender finger, Flexion contracture, Talipes equinovarus	OMIM:147800
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Limb undergrowth, Depressed nasal ridge, Communicating hydrocephalus	ORPHA:1861
H Syndrome	Recurrent pharyngitis, Hyperpigmentation of the skin, Hydrocephalus, Proptosis, Camptodactyly, Ch...	ORPHA:168569
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Hypertelorism, Syndactyly, Depressed nasal bridge, Small nail	OMIM:614520
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short metacarpal, Rhizomelic arm shortening, Trigonocephaly, Abnormal ...	ORPHA:508542
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Tracheobronchomalacia, Femoral bowing, Microcephaly, Craniosynostosis, Ventriculome...	OMIM:616462
Meckel Syndrome	Anencephaly, Encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly,...	ORPHA:564
Prader-Willi Syndrome	Osteopenia, Acromicria, Genu valgum, Radial deviation of finger, Narrow nasal bridge, Generalized...	OMIM:176270
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Single transverse palmar crease, Synophrys, Abnormal facial shape, Short palm, Hypertelorism, Bro...	ORPHA:466943
Curry-Jones Syndrome	High anterior hairline, Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Hirsut...	OMIM:601707
Trichorhinophalangeal Syndrome, Type Ii	Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, 2-4 toe syndactyly, Syndact...	OMIM:150230
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Anencephaly, Aplasia/Hypoplasia of the thumb, Abs...	ORPHA:96176
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Albinism-Deafness Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom...	ORPHA:998
Chromosome 1P36 Deletion Syndrome, Distal	Microcephaly, Abnormality of the hairline, Lateral ventricle dilatation, Short 5th finger, Hydroc...	OMIM:607872
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral fusion, Proximal placement of th...	OMIM:142900
Developmental And Epileptic Encephalopathy 100	Hypoplastic fingernail, Bilateral camptodactyly, Single transverse palmar crease, Elbow flexion c...	OMIM:619777
Pallister-Hall Syndrome	Nail dysplasia, Mesoaxial polydactyly, Oligodactyly, Trigonocephaly, Broad thumb, Polydactyly aff...	ORPHA:672
Pseudotrisomy 13 Syndrome	Cyclopia, Hypotelorism, Encephalocele, Hydrocephalus, 2-3 toe syndactyly, Postaxial hand polydact...	OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Low anterior hairline	OMIM:613153
Restrictive Dermopathy 1	Rocker bottom foot, Narrow nasal ridge, Temporomandibular joint ankylosis, Overtubulated long bon...	OMIM:275210
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Triangular face, Broad eyebrow, Clinodactyly of the 5th finger, Small nail, Hypotelorism, Antever...	OMIM:616975
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Hypopigmentation of the skin, Microcephaly, Arachnodactyly, Anomaly of ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Hypopigmentation of the skin, Microcephaly, Arachnodactyly, Anomaly of ...	ORPHA:363958
Noonan Syndrome	Osteopenia, Triangular face, Clinodactyly of the 5th finger, Abnormal hair quantity, Proptosis, L...	ORPHA:648
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Macrocephaly, Triangular face, Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatati...	OMIM:619575
Fanconi Anemia, Complementation Group L	Hydrocephalus, Depressed nasal tip, Cafe-au-lait spot, Bilateral talipes equinovarus, Micrognathi...	OMIM:614083
Focal Dermal Hypoplasia	Narrow nasal bridge, Abnormality of the nail, Abnormal dental enamel morphology, Finger syndactyl...	ORPHA:2092
Microphthalmia, Syndromic 6	Brachycephaly, Retrognathia, Plagiocephaly, Lambdoidal craniosynostosis, Polydactyly, Clinodactyl...	OMIM:607932
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi...	ORPHA:2502
Fraser Syndrome 3	Wide nose, Hydrocephalus, Micrognathia, Short toe, Convex nasal ridge, Cutaneous syndactyly	OMIM:617667
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Hirsutism, Short long bone, Broad metacarpals, Flared iliac wing, Abno...	ORPHA:79255
Poland Syndrome	Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
Focal Facial Dermal Dysplasia Type Iv	Microcephaly, Hydrocephalus	ORPHA:398189
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial hand po...	OMIM:607361
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Long face, Limitation of joint mobility, Low posterior hairline, Camptodactyly...	ORPHA:2990
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Cervical myelopathy, Abnormal lower limb ...	ORPHA:321
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, De...	OMIM:216340
Hennekam Syndrome	Retrognathia, Supernumerary tooth, Delayed eruption of teeth, Finger syndactyly, Abnormal facial ...	ORPHA:2136
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Prominent occiput, Abnormal ...	ORPHA:79500
Peters Plus Syndrome	Round face, Microcephaly, Ventriculomegaly, Rhizomelia, Hydrocephalus, Long face, Anteverted nare...	ORPHA:709
Acromelic Frontonasal Dysostosis	Brachycephaly, Midline defect of the nose, Patellar hypoplasia, Parietal foramina, Bifid nasal ti...	OMIM:603671
Albinism-Deafness Syndrome	Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism	OMIM:300700
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Loeys-Dietz Syndrome 2	Retrognathia, Hydrocephalus, Absent distal phalanges, Proptosis, Camptodactyly, Osteoporosis, Pos...	OMIM:610168
Fanconi Anemia, Complementation Group D2	Hypotelorism, Hydrocephalus, Cafe-au-lait spot, Abnormality of skin pigmentation, Aplasia of the ...	OMIM:227646
Periventricular Nodular Heterotopia 1	Short finger, Clinodactyly, Syndactyly	OMIM:300049
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Microcephaly, Colpocephaly, Overlapping toe, Hip dislocation, 2-3 to...	OMIM:270400
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Menkes Disease	Abnormal metaphysis morphology, Tarsal synostosis, Hypopigmentation of hair, Prominent occiput, B...	ORPHA:565
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Microcephaly, Dilated fourth ventricle, Ventriculomegaly	ORPHA:370959
Spondyloepimetaphyseal Dysplasia, Shohat Type	Fibular overgrowth, Generalized bone demineralization, Flared metaphysis, Delayed epiphyseal ossi...	ORPHA:93352
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Optic Pathway Glioma	Hydrocephalus, Proptosis	ORPHA:2086
Charge Syndrome	Polydactyly, Aqueductal stenosis, Abnormal tibia morphology, Clinodactyly of the 5th finger, Dela...	ORPHA:138
Dubowitz Syndrome	Triangular face, Clinodactyly of the 5th finger, Delayed eruption of teeth, Single transverse pal...	OMIM:223370
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Flared iliac wing, Trigonocephaly, Bro...	OMIM:312870
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Relative macrocephaly, Cranial asymmetry, Short humerus, Aplasia/Hypoplasia of the ...	ORPHA:3455
Lethal Congenital Contracture Syndrome 10	Convex nasal ridge, Stiff neck, Short long bone, Femoral bowing, Micrognathia, Adducted thumb, Ov...	OMIM:617022
Bardet-Biedl Syndrome 1	Radial deviation of finger, Bone spicule pigmentation of the retina, Macrocephaly, Hirsutism, Pos...	OMIM:209900
Walker-Warburg Syndrome	Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Microcephaly, Metatarsus valgus, Ventricu...	ORPHA:899
Vacterl Association With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Radial club hand, Absent thumb	OMIM:276950
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Genu valgum, Hydrocephalus, Generalized hypopigmentation, Microcephaly, Flexion contr...	OMIM:619321
Ring Chromosome 12 Syndrome	Breast hypoplasia, Abnormal 5th finger morphology, Hirsutism, Dystrophic toenail, Abnormal facial...	ORPHA:1439
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Hypopigmented skin patches, Nail dystrophy, Turricephaly, Dystrophic...	ORPHA:2907
22Q11.2 Deletion Syndrome	Turricephaly, Multiple suture craniosynostosis, Microcephaly, Arachnodactyly, Joint hypermobility...	ORPHA:567
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ...	ORPHA:959
Down Syndrome	Brachycephaly, Short nose, Bilateral single transverse palmar creases, Clinodactyly of the 5th fi...	ORPHA:870
Lhermitte-Duclos Disease	Hydrocephalus, Trichilemmoma, Hand polydactyly, Macrocephaly	ORPHA:65285
Primrose Syndrome	Reduced bone mineral density, Generalized osteoporosis, Joint hypermobility, Short distal phalanx...	OMIM:259050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Progressive microcephaly, Flexion contracture, Hydrocephalus	OMIM:615249
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
L1 Syndrome	Aqueductal stenosis, Adducted thumb, Hydrocephalus	ORPHA:275543
Primary Ciliary Dyskinesia	Hydrocephalus, Clubbing, Nasal congestion, Chronic rhinitis, Nasal polyposis, Ventriculomegaly, C...	ORPHA:244
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Geleophysic Dysplasia 1	Osteopenia, Short nose, Small nail, Anteverted nares, Short long bone, Round face, Short foot, Wr...	OMIM:231050
Plasminogen Deficiency, Type I	Macrocephaly, Hydrocephalus, Dandy-Walker malformation, Recurrent upper respiratory tract infecti...	OMIM:217090
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Marden-Walker Syndrome	Retrognathia, Hydrocephalus, Metatarsus adductus, Camptodactyly of finger, Micrognathia, Arachnod...	ORPHA:2461
Hereditary Cryohydrocytosis With Reduced Stomatin	Macrocephaly, Communicating hydrocephalus, Microcephaly, Brachydactyly, Hypoglycorrhachia	ORPHA:168577
Brittle Cornea Syndrome	Abnormality of hair pigmentation, Camptodactyly, Osteoporosis, Arachnodactyly, Hip dysplasia, Abn...	ORPHA:90354
Orofaciodigital Syndrome Type 4	Retrognathia, Short nose, Wide nose, Finger syndactyly, Postaxial hand polydactyly, Choanal atres...	ORPHA:2753
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Oval face, Hypopigmentation of the skin, Proptosis, Microcephaly, Joint hypermobility, Ventriculo...	OMIM:619475
Melanosis, Neurocutaneous	Hydrocephalus, Dandy-Walker malformation, Numerous congenital melanocytic nevi, Choroid plexus pa...	OMIM:249400
Neurofibromatosis, Type I	Inguinal freckling, Aqueductal stenosis, Genu valgum, Macrocephaly, Hydrocephalus, Multiple cafe-...	OMIM:162200
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Micrognathia	OMIM:243440
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Spina bifida occulta, Encepha...	ORPHA:2369
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ...	OMIM:263520
Kabuki Syndrome 1	Highly arched eyebrow, Hydrocephalus, Hirsutism, Prominent fingertip pads, Congenital hip disloca...	OMIM:147920
Neurofibromatosis Type 1	Hypopigmented skin patches, Inguinal freckling, Osteopenia, Genu valgum, Macrocephaly, Abnormal h...	ORPHA:636
Cog1-Cdg	Osteopenia, Rhizomelia, Talipes equinovarus, Progressive microcephaly, Short long bone, Flat acet...	ORPHA:263508
Tetrasomy 9P	Amelogenesis imperfecta, Bilateral single transverse palmar creases, Macrocephaly, Clinodactyly o...	ORPHA:3310
1P36 Deletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Deeply set eye, Depressed nasal ridge, Horizontal ...	ORPHA:1606
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Narrow nasal bridge, Hypopigmentation of the skin, Osteopor...	ORPHA:398079
Vacterl With Hydrocephalus	Retrognathia, Hypoplasia of the radius, Aqueductal stenosis, Hydrocephalus, Spina bifida, Microgn...	ORPHA:3412
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Nail dysplasia, Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short long bone,...	OMIM:617088
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Radial deviation of finger, Genu valgum, Talipes equinovarus, Anteverted nares, Tapered finger, S...	OMIM:309580
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Clinodactyly of the 5th finger, Absent eyelashes, Aplastic zygomatic arch...	OMIM:200110
Cutis Marmorata Telangiectatica Congenita	Reduced bone mineral density, Finger syndactyly, Abnormality of the upper limb, Multiple cafe-au-...	ORPHA:1556
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Kabuki Syndrome	Short columella, Small hand, Highly arched eyebrow, Hydrocephalus, Long eyelashes, Sparse lateral...	ORPHA:2322
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Abnormal number of hair whorls, Radial deviation of finger, Sandal gap, Anteverted nares, Long ha...	OMIM:618164
Isotretinoin-Like Syndrome	Microcephaly, Anteverted nares, Micrognathia, Hydrocephalus	ORPHA:2306
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe...	OMIM:208500
Simpson-Golabi-Behmel Syndrome	Nail dysplasia, Small nail, Broad thumb, Anteverted nares, Postaxial hand polydactyly, Toe syndac...	ORPHA:373
Microphthalmia, Lenz Type	Abnormal shoulder morphology, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger s...	ORPHA:568
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Loeys-Dietz Syndrome 1	Retrognathia, Joint hypermobility, Hydrocephalus, Postaxial hand polydactyly, Proptosis, Camptoda...	OMIM:609192
Floating-Harbor Syndrome	Long nose, Triangular face, Narrow nasal bridge, Dislocated radial head, Short clavicles, Low han...	ORPHA:2044
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Limb-Mammary Syndrome	Nail dysplasia, Clinodactyly of the 5th finger, Breast aplasia, Hypoplastic nipples, Oligodactyly...	ORPHA:69085
Proteus Syndrome	Irregular hyperpigmentation, Macrodactyly, Abnormal finger morphology, Round face, Calvarial hype...	ORPHA:744
Obesity And Hypopigmentation	Red hair	OMIM:620195
Joubert Syndrome 33	Syndactyly	OMIM:617767
Lacrimoauriculodentodigital Syndrome	Nail dysplasia, Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Abnormal ...	ORPHA:2363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation, Meningoencephalocele, Congenit...	OMIM:236670
Neurocardiofaciodigital Syndrome	Polydactyly, Retrognathia, Sparse eyebrow, Syndactyly, Sparse hair, Overhanging nasal tip	OMIM:619869
Semilobar Holoprosencephaly	Cyclopia, Macrocephaly, Single naris, Proboscis, Neural tube defect, Hypotelorism, Hydrocephalus,...	ORPHA:220386
Alobar Holoprosencephaly	Cyclopia, Macrocephaly, Single naris, Proboscis, Neural tube defect, Hypotelorism, Hydrocephalus,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Cyclopia, Macrocephaly, Single naris, Proboscis, Neural tube defect, Hypotelorism, Hydrocephalus,...	ORPHA:93926
Lobar Holoprosencephaly	Cyclopia, Macrocephaly, Single naris, Proboscis, Neural tube defect, Hypotelorism, Hydrocephalus,...	ORPHA:93924
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Short nose, Posterior plagiocephaly, Sandal gap, Mandibular prognathia, Prominent ...	OMIM:620330
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Small nail	OMIM:615631
Dural Sinus Malformation	Hydrocephalus, Macrocephaly, Proptosis, Myelopathy	ORPHA:97339
Alexander Disease	Osteopenia, Aqueductal stenosis, Macrocephaly, Hyperpigmented nevi, Hydrocephalus, Frontal bossin...	ORPHA:58
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Anencephaly, Hydrocephalus, Micromelia, Postaxial polydactyly, Occipital me...	OMIM:616546
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus	OMIM:312190
Vici Syndrome	Triangular face, Hypotelorism, Hypopigmentation of hair, Wide nose, Hypopigmentation of the skin,...	OMIM:242840
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair	ORPHA:2221
Genitourinary And/Or Brain Malformation Syndrome	Short nose, Long face, Joint stiffness, Aplasia of the nasal bone, Micrognathia, Acrania, Syndact...	OMIM:618820
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Down Syndrome	Brachycephaly, Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Shallow aceta...	OMIM:190685
Glutaric Acidemia I	Hydrocephalus, Macrocephaly, Lateral ventricle dilatation	OMIM:231670
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Wide nose, Finger syndactyly, Absent eyelashes, P...	OMIM:256520
Timothy Syndrome	Cutaneous syndactyly, Round face, Depressed nasal bridge	OMIM:601005
Jacobsen Syndrome	Short nose, Finger syndactyly, Anteverted nares, Trigonocephaly, Frontal bossing, Broad columella...	ORPHA:2308
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Hypopigmentation of hair, Narrow nasal bridge, Hypopigmentation of the skin, Osteopor...	ORPHA:398069
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Proximal placement of thumb, Hydrocephalus, Hand polydactyly, Short humerus, Absent radius	OMIM:314390
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Midline defect of the nose, Finger syndactyly, Generalized hypopigmentation, Anteverted nares, Mu...	ORPHA:1969
Femoral-Facial Syndrome	Limited elbow movement, Short nose, Aplasia/hypoplasia of the femur, Talipes equinovarus, Hypopla...	OMIM:134780
Classic Phenylketonuria	Microcephaly, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
Adams-Oliver Syndrome 1	Encephalocele, Small nail, Microcephaly, Brachydactyly, Toe syndactyly, Ventriculomegaly, Calvari...	OMIM:100300
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly, Pigmentary retinopathy	OMIM:605231
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Short long bone, Long eyelashes, Wide nasal bridge, Prominent nasolabial fold	OMIM:301110
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Retrognathia, Wide nose, Hyperpigmentation of the skin, Abnormality o...	ORPHA:2556
Autosomal Recessive Spondylocostal Dysostosis	Prominent occiput, Finger syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal ...	ORPHA:2311
Neonatal Lupus Erythematosus	Hydrocephalus, Macrocephaly	ORPHA:398124
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Hydrocephalus, Bone cyst, Narrow iliac wing, Calcification of the auricular cartil...	ORPHA:3042
Adams-Oliver Syndrome 5	Dystrophic toenail, Absent toenail, Syndactyly, Brachydactyly, Hypoplastic toenails	OMIM:616028
Noonan Syndrome 1	Radial deviation of finger, Triangular face, Cubitus valgus, Woolly hair, Low posterior hairline,...	OMIM:163950
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Pseudoepiphyses of second met...	OMIM:107480
Neurooculorenal Syndrome	Aqueductal stenosis, Short hallux, Highly arched eyebrow, Hydrocephalus, Micrognathia, Short 1st ...	OMIM:620305
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Knobloch Syndrome	Occipital encephalocele, Abnormal hair morphology, Hydrocephalus, Joint hypermobility, Calvarial ...	ORPHA:1571
You-Hoover-Fong Syndrome	Microcephaly, Clinodactyly, Brachydactyly	OMIM:616954
Prader-Willi Syndrome	Osteopenia, Hypopigmentation of hair, Narrow nasal bridge, Hypopigmentation of the skin, Osteopor...	ORPHA:739
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Finger aplasia, Hand polydactyly, Syndactyly, Hyperpigmented nevi and streak	OMIM:149000
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Fused cervical vertebrae, Hypoplastic nasal tip, Anteverted nares, Short foot,...	OMIM:157800
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Hypopigmentation of the skin, Epistaxis, Melanocytic nevus, Albinism, F...	OMIM:203300
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Turricephaly, Finger syndactyly, Abnormal dental enamel morphology, Carious...	ORPHA:2908
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Congenital giant melanocytic nevus, Hydrocephalus, Abnormality of ski...	ORPHA:626
Griscelli Syndrome Type 2	Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair	ORPHA:79477
Osteootohepatoenteric Syndrome	Reduced bone mineral density, Hydrocephalus, Hip dysplasia, Avascular necrosis of the capital fem...	OMIM:619377
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Highly arched eyebrow, Broad thumb, Syn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Highly arched eyebrow, Broad thumb, Syn...	ORPHA:353277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly, Macrocephaly	OMIM:616538
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hydrocephalus, Overlapping fingers, Talipes equinovarus	OMIM:617053
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Ventriculomegaly, Nasofrontal encephalocele, Hypertelorism	OMIM:614195
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short nose, Deep palmar crease, Thick hair, Hydrocephalus, Long eyelashes, Joint stiffness, Abnor...	ORPHA:505248
Sturge-Weber Syndrome	Hyperostosis, Macrocephaly, Heterochromia iridis, Hydrocephalus	ORPHA:3205
Functioning Gonadotropic Adenoma	Abnormality of secondary sexual hair, Hydrocephalus, Osteoporosis, Osteopenia	ORPHA:91348
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Wide nose, Communicating hydrocephalus	ORPHA:2184
Bardet-Biedl Syndrome	Retrognathia, Medial flaring of the eyebrow, Talipes equinovarus, Finger syndactyly, Postaxial po...	ORPHA:110
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Whipple Disease	Hydrocephalus, Generalized hyperpigmentation, Proptosis, Arthritis	ORPHA:3452
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus, Retrognathia	ORPHA:2736
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Orthostatic Hypotension 1	Joint hypermobility, Nasal congestion, Brachydactyly	OMIM:223360
Cerebral Visual Impairment	Microcephaly, Hydrocephalus	ORPHA:447788
Fanconi Anemia, Complementation Group B	Hydrocephalus, Bilateral radial aplasia, Ventriculomegaly, Absent thumb	OMIM:300514
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Hypopigmentation of the skin, Long e...	ORPHA:79430
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Oligodactyly, Ectrodactyly	ORPHA:3016
Chiari Malformation Type Ii	Hydrocephalus, Cervical myelopathy, Myelomeningocele, Spina bifida	OMIM:207950
Glutaryl-Coa Dehydrogenase Deficiency	Increased head circumference, Subependymal nodules, Communicating hydrocephalus, Progressive macr...	ORPHA:25
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Abnormal facial...	ORPHA:177904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Congenital contracture, Microcephaly, Ventriculomegaly	OMIM:613150
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:163746
Tukel Syndrome	Carpal bone aplasia, Postaxial oligodactyly, Syndactyly, Carpal synostosis	OMIM:609428
Spondylocostal Dysostosis 4, Autosomal Recessive	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Block vertebrae, Vertebral fusion	OMIM:613686
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventriculomegaly, Hydrocephalus	OMIM:219730
Thakker-Donnai Syndrome	Cervical C2/C3 vertebral fusion, Anteverted nares, Communicating hydrocephalus, Hypertelorism, Bu...	ORPHA:1780
Pentalogy Of Cantrell	Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Split hand, Aplasia/Hypopla...	ORPHA:1335
Syndromic Diarrhea	Trichorrhexis nodosa, Hypopigmentation of hair, Brittle hair, Generalized hypopigmentation, Uncom...	ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Flexion contracture, Lateral v...	OMIM:613154
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen...	ORPHA:98754
Pgm3-Cdg	Allergic rhinitis, Abnormal facial shape, Chronic sinusitis, Brachydactyly, Osteomyelitis	ORPHA:443811
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus, Chronic rhinitis, Chronic sinusitis, Recurrent upper respiratory ...	OMIM:618699
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f...	OMIM:149730
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydact...	OMIM:612284
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydrocephalus, ...	OMIM:244400
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen...	ORPHA:98793
Fraser Syndrome	Cleft ala nasi, Finger syndactyly, Underdeveloped nasal alae, Midline nasal groove, Cutaneous syn...	ORPHA:2052
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypopigmentation of hair, Hypopigmentation of the skin, Osteoporosis, Iris hypopigmen...	ORPHA:177901
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Microphthalmia With Brain And Digit Anomalies	Nail dysplasia, Finger syndactyly, Proximal placement of thumb, Postaxial foot polydactyly	ORPHA:139471
Cowden Syndrome	Hypopigmented skin patches, Macrocephaly, Bone cyst, Multiple cafe-au-lait spots, Brachydactyly, ...	ORPHA:201
Grange Syndrome	Syndactyly, Brachydactyly, Finger clinodactyly, Recurrent fractures, Increased susceptibility to ...	OMIM:602531
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Hydrolethalus Syndrome 1	Midline defect of the nose, Anencephaly, Upper limb undergrowth, Dandy-Walker malformation, Posta...	OMIM:236680
Arachnoid Cyst	Encephalocele, Hydrocephalus, Abnormal occipital bone morphology, Holoprosencephaly, Enlarged fos...	ORPHA:2356
Tetraamelia Syndrome 1	Single naris, Hydrocephalus, Choanal atresia, Hypoplastic pelvis, Micrognathia	OMIM:273395
Craniopharyngioma	Abnormal nasal bone morphology, Abnormal frontal bone morphology, Hydrocephalus, Increased suscep...	ORPHA:54595
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, Micrognathia, Bulbous nose...	OMIM:620025
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Microcephaly, Ventriculomegaly, Hydrocephalus	ORPHA:395
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Numerous pigmented freckles, Microcephaly, Hydrocephalus	ORPHA:220295
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Macrocephaly, Anteverted nares, Brachydactyly, Recurrent upper respiratory tract infections, Hype...	ORPHA:293987
Heterotaxy, Visceral, 1, X-Linked	Aqueductal stenosis, Hydrocephalus, Short long bone, Myelomeningocele, Congenital hip dislocation...	OMIM:306955
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia	ORPHA:90065
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Medulloblastoma	Progressive macrocephaly, Hydrocephalus	ORPHA:616
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Microcephaly, Micrognathia, Short nasal bridge, Malar flattening, Ventriculomegaly	OMIM:253280
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Weill-Marchesani Syndrome 4	Joint stiffness, Brachydactyly	OMIM:613195
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation, Linear hyperpigmentation, Alopecia	OMIM:613001
Isolated Posterior Meningocele	Increased head circumference, Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocel...	ORPHA:268810
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Microcephaly, Long face, Hydrocephalus, Pigmentary retinopathy	OMIM:277400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Flexion contracture, Encephalocele	OMIM:253800
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Hypopigmentation of...	OMIM:214500
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus, Long face, Abnormal facial shape, Microcephaly, Pigmentary retinopathy	ORPHA:79282
Arachnoiditis	Hydrocephalus	ORPHA:137817
Biliary, Renal, Neurologic, And Skeletal Syndrome	Polydactyly, Osteopenia, Aqueductal stenosis, Hydrocephalus, Long face, Anteverted nares, Round f...	OMIM:619534
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Short palm, Brachydactyly	ORPHA:3217
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Single transverse palmar crease, Microcephaly, Colpocephaly, Pigmentary retinopathy	OMIM:309801
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly	ORPHA:77298
Gaucher Disease	Osteopenia, Increased bone mineral density, Hydrocephalus, Abnormal bone structure, Joint stiffne...	ORPHA:355
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Arachnodactyly, Syndactyly, Adducted thumb, Long toe, Camptodactyly, Depressed nasal tip, Ulnar d...	ORPHA:261537
Dextrocardia	Hydrocephalus, Congenital hip dislocation	ORPHA:1666
Mowat-Wilson Syndrome	Syndactyly, Adducted thumb, Long toe, Long face, Camptodactyly, Depressed nasal tip, Horizontal e...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Highly arched eyebrow, Abnormal jaw morphology, Arachnodactyly, Syndactyly, Adducted thumb, Long ...	ORPHA:261552
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Hydrocephalus, Spontaneous, recurrent epistaxis, Ventriculomegaly, Hallux valgus	ORPHA:2072
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Fraser Syndrome 2	Underdeveloped nasal alae, Cutaneous syndactyly, Low anterior hairline, Wide nose	OMIM:617666
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Choanal atresia, Abnormal na...	OMIM:192350
Vacterl/Vater Association	Preaxial hand polydactyly, Finger syndactyly, Aplasia/Hypoplasia of the radius	ORPHA:887
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Cystinosis, Nephropathic	Rickets, Genu valgum, Hypophosphatemic rickets, Hypopigmentation of hair, Hypopigmentation of the...	OMIM:219800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Craniofacial Microsomia 1	Occipital encephalocele, Hemifacial hypoplasia, Genu valgum, Hydrocephalus, Branchial anomaly, Ma...	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
Meningioma	Hydrocephalus, Proptosis, Abnormality of the sense of smell	ORPHA:2495
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus, Epistaxis	ORPHA:137667
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Dermal sinus tract, Myelomeningocele, Bilateral talipes...	OMIM:600145
Constricting Bands, Congenital	Hand polydactyly, Syndactyly, Talipes equinovarus	OMIM:217100
Lymphangioleiomyomatosis	Hydrocephalus, Abnormality of skin pigmentation, Ungual fibroma	ORPHA:538
Full Nf2-Related Schwannomatosis	Hydrocephalus, Myelopathy, Hyperpigmentation of the skin	ORPHA:637
Mckusick-Kaufman Syndrome	Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation	OMIM:236700
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Abnormality of the sphenoid sinus	ORPHA:91350
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Communicating hyd...	OMIM:615287
Histiocytoid Cardiomyopathy	Hydrocephalus	ORPHA:137675
Oeis Complex	Hydrocephalus, Talipes equinovarus, Myelomeningocele, Congenital hip dislocation	OMIM:258040
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Microphthalmia, Syndromic 1	Radial deviation of finger, Short clavicles, Prominent fingertip pads, Camptodactyly, Abnormal pa...	OMIM:309800
Tuberous Sclerosis Complex	Subependymal nodules, Ungual fibroma, Noncommunicating hydrocephalus, Hypomelanotic macule	ORPHA:805
Exstrophy-Epispadias Complex	Microcephaly, Hydrocephalus, Spina bifida	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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