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Gene: Lrp4 MGI:2442252

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

low density lipoprotein receptor-related protein 4

Synonyms:

mdig, 6430526J12Rik, Megf7

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 Lrp4 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 Lrp4 (6 diseases)
Human diseases predicted to be associated with Lrp4 (2196 diseases)

The table below shows human diseases associated to Lrp4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Facial palsy, 2-3 finger syndactyly, Optic atrophy,...	ORPHA:3152
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Sclerosteosis 2	Mandibular prognathia, Facial palsy, Cranial nerve compression, Cutaneous finger syndactyly, Shor...	OMIM:614305
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Weakness of the intrinsic hand muscles...	ORPHA:98913
Myasthenic Syndrome, Congenital, 17		OMIM:616304

The table below shows human diseases predicted to be associated to Lrp4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Incisors, Rotation Of Upper Central	Rotated maxillary central incisors	OMIM:147350
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Diastema, Dental Medial	Diastema, Widely-spaced maxillary central incisors	OMIM:125900
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Taurodontism	Taurodontia	OMIM:272700
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Polydactyly, Preaxial I	Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin...	OMIM:174400
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Anonychia-Microcephaly Syndrome	Clinodactyly of the 5th finger, Abnormality of the dentition, Carious teeth, Bilateral single tra...	ORPHA:1094
Cooks Syndrome	Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd...	ORPHA:1487
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Tetrasomy X	Premature ovarian insufficiency, Abnormality of the dentition, Radioulnar synostosis, Hip dysplas...	ORPHA:9
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Abnormali...	ORPHA:2501
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Symphalangism, Distal	Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte...	OMIM:185700
2q37 monosomy	Brachydactyly	DECIPHER:44
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t...	ORPHA:1264
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion...	ORPHA:1858
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Stillb...	ORPHA:294975
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe	OMIM:176305
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Synophrys, Brachydactyly	OMIM:612001
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Rocker bottom foot, Single transverse palmar crease, Micr...	OMIM:611890
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal palate morphology...	ORPHA:1277
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Preaxial Hallucal Polydactyly	Preaxial hand polydactyly, Preaxial foot polydactyly	OMIM:601759
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Tapered finger, Short finger, Death in childhood, Acrocyanosis	OMIM:302000
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Nail dystrophy, Triphalangeal thumb, Bilater...	OMIM:124480
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Secondary amenorrhea, Irregular vertebral endplates, Platyspo...	OMIM:612847
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow...	OMIM:225280
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Short metacarpal, Dental crowding, Avascular necrosis of the capital fe...	OMIM:190351
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ...	ORPHA:1927
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	ORPHA:79402
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal...	OMIM:612961
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, White hair, Abnormal finger mor...	ORPHA:896
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Charlie M Syndrome	Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Tooth agenesis,...	ORPHA:1406
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip ...	ORPHA:2370
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the dent...	ORPHA:1350
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn...	ORPHA:750
Summitt Syndrome	Syndactyly	OMIM:272350
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo...	OMIM:146000
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Pyle Disease	Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t...	OMIM:265900
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo...	ORPHA:1307
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of th...	ORPHA:3268
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of...	ORPHA:370010
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Eng-Strom Syndrome	Camptodactyly of finger, Scoliosis, Brachydactyly	ORPHA:1937
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang...	OMIM:609616
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ...	OMIM:608940
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Bardet-Biedl Syndrome 7	Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:615984
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Synophrys, Short metatarsal, Broad...	ORPHA:1278
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Postnatal growth retardation, Cutaneous synd...	OMIM:272440
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Thoracolumbar scoliosis, Aplasia/Hypoplasia o...	OMIM:113000
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Cryptorchidism, Hypogonadism, Polydactyly, Brachydactyly	OMIM:615982
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Micrognathia, Narrow mouth, Fibular hypoplasia,...	OMIM:201170
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Postaxial polydactyly, Unilateral renal agenesis, M...	OMIM:618142
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Brachydactyly, Single transverse palmar crease, Dental malocc...	OMIM:601957
Feingold Syndrome 2	Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyly, Short middle phalanx of ...	OMIM:614326
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra...	OMIM:617405
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregul...	OMIM:234250
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Gen...	ORPHA:2831
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Narrow mouth, Thick lower lip vermilion, Small hand, Ab...	ORPHA:969
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Irregular vertebral endplates, Hypoplas...	OMIM:271700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Micrognathia,...	ORPHA:245
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly	OMIM:619692
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Odontochondrodysplasia 1	Respiratory distress, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger...	OMIM:184260
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Abnormality of the vertebral endpla...	ORPHA:1856
Braddock Syndrome	Neonatal respiratory distress, Abnormal hair pattern, Unilateral renal agenesis, Micrognathia, Pr...	ORPHA:52047
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Cryptorchidism, Thin vermilion border, Brachydactyly	ORPHA:3303
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velo...	OMIM:614399
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Acrootoocular Syndrome	Delayed eruption of teeth, Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased pal...	ORPHA:2980
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Camptodactyly	OMIM:617055
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Rhizomelic Syndrome, Urbach Type	Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, K...	ORPHA:3098
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Sillence Syndrome	Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn...	ORPHA:3168
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lower lip vermilion,...	OMIM:102370
Ectrodactyly-Polydactyly	Split hand, Postaxial hand polydactyly, Split foot	OMIM:225290
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu...	OMIM:602418
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha...	OMIM:177170
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic hemivertebrae, Brac...	ORPHA:1436
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarp...	ORPHA:2511
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Short thumb, Brachydactyly	OMIM:165800
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Abnorm...	OMIM:146510
Burn-Mckeown Syndrome	Mandibular prognathia, Unilateral renal agenesis, Micrognathia, Cleft upper lip, 2-3 toe syndacty...	OMIM:608572
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mouth, Abnormality of th...	ORPHA:521308
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Single transverse pal...	OMIM:619951
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Cryptorchidism, Synophrys, 2-3 toe syndactyly, High palate, Talipes eq...	ORPHA:3306
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Delayed eruptio...	OMIM:620099
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Cutis marmorata, Absence of renal corticomedullary differentiat...	OMIM:619758
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Renal cy...	OMIM:236500
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Split foot	OMIM:183700
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, ...	ORPHA:2928
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Multiple impacted teeth, Type E brachydactyl...	OMIM:113300
Cardiospondylocarpofacial Syndrome	High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of eruption of pe...	ORPHA:3238
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Bra...	ORPHA:1919
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Hogue-Janssen Syndrome 2	Tented upper lip vermilion, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Abnor...	OMIM:616362
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Orofaciodigital Syndrome Iii	Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Shor...	OMIM:258850
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	High anterior hairline, Sparse lateral eyebrow, Brachydactyly	OMIM:618879
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Genu val...	OMIM:300602
Keipert Syndrome	Broad hallux, Exaggerated cupid's bow, Downturned corners of mouth, Broad distal phalanx of finge...	OMIM:301026
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness	OMIM:607641
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Joint contracture of the hand, Respiratory insufficiency ...	OMIM:611067
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue, Atelectasi...	OMIM:269860
Multiple Synostoses Syndrome 2	Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn...	OMIM:610017
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Abnormality of the seventh cranial n...	ORPHA:90117
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Overlapping toe, Abnormality of the kidney, Hypospadias, Unil...	ORPHA:363444
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ...	OMIM:155050
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Clinodactyly, Hypoplastic pubic bone, C...	OMIM:184250
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Unilateral ren...	OMIM:101800
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Respiratory failure, Tongue fasciculations, Hypoplasia of the capital femora...	OMIM:600561
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Aurocephalosyndactyly	4-5 toe syndactyly	OMIM:109050
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micro...	OMIM:600325
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Carious teeth, Scoliosis, Clinodactyly of the 5th finger, Malar flattenin...	ORPHA:1390
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in...	ORPHA:88630
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:1515
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Hyperekplexia 4	Respiratory failure, High palate, Talipes equinovarus, Camptodactyly, Umbilical hernia, Adducted ...	OMIM:618011
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morp...	ORPHA:63442
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Humeroradial synostosis, Cleft palate, For...	OMIM:251230
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio...	OMIM:194350
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Brachydactyly, Single transverse palmar crease, Adducted thumb	OMIM:620062
Craniosynostosis 3	Hallux valgus, Dental malocclusion, Single transverse palmar crease, Brachydactyly	OMIM:615314
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Hyperlordosis, Symphalangism affecting t...	ORPHA:710
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Narrow mouth, Short phalanx of finger, Brachydactyly	OMIM:132450
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal...	ORPHA:93307
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,...	OMIM:610978
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb	ORPHA:2091
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow...	ORPHA:263463
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Short femur, Rhizomelia, Short humerus	OMIM:600121
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Trip...	ORPHA:2251
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Micrognathia, 2-3 toe syndactyly, Gingival overgrowth,...	OMIM:618186
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Fo...	OMIM:154400
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology	OMIM:183020
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Overlapping toe, Unilateral renal agenesis, High, narrow palate, Crypto...	OMIM:618494
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges...	OMIM:602849
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Clubbing, Intraalve...	OMIM:610910
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Leri Pleonosteosis	Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal form of the vert...	ORPHA:2900
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Cleft...	OMIM:614078
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Kyphosis, Premature lo...	ORPHA:137834
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space...	OMIM:616737
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Cryptorchidism, Small hand, Wide mouth, Broad finger, Long philtrum, Cl...	OMIM:614684
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital...	OMIM:132400
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag...	OMIM:615993
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Unilateral renal agenesis, Postaxial polydactyly, Optic atrophy, Hip dysplasia,...	OMIM:614576
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of ...	ORPHA:950
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Kyphosis, Cry...	ORPHA:3409
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul...	OMIM:253300
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Bilateral single transverse palmar creases, Abnormality of the dentitio...	ORPHA:502
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater...	OMIM:614900
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Cyanosis, Apn...	ORPHA:2257
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Legg-Calvé-Perthes Disease	Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Fetal pyelectasis, Tali...	OMIM:616531
Atelosteogenesis, Type Ii	Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Shor...	OMIM:256050
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Renal hypoplasia...	ORPHA:2863
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Tapered finger, Respiratory insufficien...	OMIM:313420
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Narrow palate, Brachydactyly	OMIM:617169
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Thick lower lip vermilion, Genu varum, ...	OMIM:619451
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue...	OMIM:258860
Sclerosteosis	Finger syndactyly, Craniofacial hyperostosis, Facial palsy, 2-3 finger syndactyly, Optic atrophy,...	ORPHA:3152
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal ...	OMIM:609441
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti...	ORPHA:1787
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Micrognathia, Metaphyseal widening, High palate, Microdontia, Renal neoplas...	ORPHA:536467
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Neuralgic Amyotrophy	Scapular winging, Respiratory insufficiency, Cleft palate, Narrow mouth, Acrocyanosis	ORPHA:2901
Radio-Renal Syndrome	Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/...	ORPHA:3015
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension,...	OMIM:180870
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Micrognathia, Hypoplasia of the maxilla...	ORPHA:776
Nicolaides-Baraitser Syndrome	Short palm, Sandal gap, Cryptorchidism, High, narrow palate, Abnormal finger morphology, Clubbing...	ORPHA:3051
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Anauxetic Dysplasia 1	Mandibular prognathia, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Hypoplastic ilia, Short...	OMIM:607095
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Cleft palate, Finger joint hypermobil...	OMIM:244200
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di...	ORPHA:2916
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Hip dislocation, Elbow flexion contracture, Respiratory failure, Increase...	ORPHA:75840
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Ectrodact...	ORPHA:1897
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Congenital Muscular Dystrophy With Intellectual Disability	Facial palsy, Abnormality of the tongue muscle, Cryptorchidism, Hip dislocation, Respiratory insu...	ORPHA:370968
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er...	OMIM:265800
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Small hand, Short foot, Clinodactyly of the 5th finge...	ORPHA:444002
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Proximal upper limb muscle hypertrophy, Pulmonary fibrosis, Bronchiolitis, Bilateral...	ORPHA:254361
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Micr...	ORPHA:166272
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Cleft palate, Clinodactyly of the 5th fi...	OMIM:244600
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Nephronophthisis 15	Polydactyly	OMIM:614845
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Polydactyly, Postaxial, Type A6	Postaxial foot polydactyly, Postaxial hand polydactyly, Broad phalanges of the 5th finger, Abnorm...	OMIM:615226
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Metaphyseal widening, Irregular epiphyse...	OMIM:612813
Branchiootorenal Syndrome 1	Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Facial palsy, U...	OMIM:113650
Sacral Agenesis With Vertebral Anomalies	Neonatal death, Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Metaphyseal widening, Respiratory insufficiency, Abnormali...	OMIM:135100
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos...	ORPHA:3121
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,...	OMIM:223800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Renal cyst, Fused teeth, High palate, Microdontia, Sparse hai...	OMIM:614091
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o...	OMIM:600002
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Osteoglosphonic Dysplasia	Rhizomelia, Micrognathia, Cryptorchidism, Abnormal form of the vertebral bodies, Multiple unerupt...	ORPHA:2645
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Hereditary Motor And Sensory Neuropathy, Type Iic	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Decreased distal sensory nerve acti...	OMIM:606071
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Coach Syndrome 1	Encephalocele, Optic disc pallor, Occipital encephalocele, Unilateral renal agenesis, Postaxial h...	OMIM:216360
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A...	OMIM:619797
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Cryptorchidism, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly	OMIM:612626
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Platyspondyly, Brachytelomesoph...	ORPHA:2619
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Hypoplastic iliac wing, Sh...	OMIM:611717
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Abruzzo-Erickson Syndrome	Toe syndactyly, Cryptorchidism, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar sy...	ORPHA:921
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Absent eyebrow, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea,...	ORPHA:2707
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact...	ORPHA:1327
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Thoracolumbar kyphoscoliosis, Hip subluxation, Squ...	OMIM:618853
Schaaf-Yang Syndrome	Mandibular prognathia, Abnormality of the philtrum, Rocker bottom foot, Tapered finger, Kyphosis,...	OMIM:615547
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of...	OMIM:190350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Prominent superficial veins, Camptodactyly of finger...	OMIM:612350
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Shoulder girdle muscle weakness, Facial palsy	OMIM:604801
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Elbow...	OMIM:618414
Emanuel Syndrome	Broad jaw, Recurrent respiratory infections, Recurrent urinary tract infections, Congenital hip d...	OMIM:609029
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Arthrogryposis Multiplex Congenita 6	Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death, Adducted ...	OMIM:619334
Sclerosteosis 2	Mandibular prognathia, Facial palsy, Cranial nerve compression, Cutaneous finger syndactyly, Shor...	OMIM:614305
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior o...	ORPHA:3473
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Arachnodactyly, Hypogonadotropic hypogonadism, Palmar pi...	ORPHA:377
Tarp Syndrome	Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Cryptorchi...	ORPHA:2886
Nevus Comedonicus Syndrome	Abnormal hair morphology, Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Weakness of the intrinsic hand muscles...	ORPHA:98913
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Abnormality of the dentit...	OMIM:157900
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Hypoplastic nipples, Camptodactyly, Joint cont...	OMIM:603543
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptor...	OMIM:300219
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda...	OMIM:257850
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar...	OMIM:618291
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Gingival overgrowth, Gingival fibromatosis, Respirat...	ORPHA:1832
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Irregular verte...	ORPHA:439822
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Long toe, Multicystic k...	OMIM:614527
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia...	OMIM:617895
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Williams-Beuren Region Duplication Syndrome	Cutis marmorata, Decreased response to growth hormone stimulation test, Unilateral renal agenesis...	OMIM:609757
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Emanuel Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Broad jaw, Congenital hip dislocatio...	ORPHA:96170
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Frag...	ORPHA:158687
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Shashi-Pena Syndrome	Thin upper lip vermilion, Short metacarpal, Unilateral renal agenesis, Highly arched eyebrow, Syn...	OMIM:617190
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Hyperlordosis, Hypoplasi...	ORPHA:1798
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morphology, Gloss...	ORPHA:1427
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Postax...	OMIM:619143
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Elbow flexion contracture, Retrognathia, Bilateral talipes equinovarus, Pulmon...	OMIM:617194
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Cryptorc...	OMIM:616331
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Abnormal diaphysis morp...	ORPHA:1657
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Cutaneous syn...	OMIM:617666
Smith-Mccort Dysplasia 2	Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyp...	OMIM:615222
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Neonatal respiratory distress, Optic nerve hypoplasia, Unilat...	ORPHA:221139
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Abnor...	ORPHA:52430
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Hemivertebrae, Abnormal for...	ORPHA:2180
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Macroglossia, Long philtrum, High pal...	OMIM:616354
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Asthma, Cleft palate, Increased overbite, Camptodactyly, To...	OMIM:618761
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Potocki-Shaffer Syndrome	Sparse lateral eyebrow, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachyd...	OMIM:601224
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Urinary incontinence, Decreased nerve conduction velocity, Tachypnea, De...	OMIM:604320
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl...	ORPHA:2538
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Cleft palate, High ...	OMIM:619736
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Adrenal hyperplasia, High, narrow palate, Femoral bowing, Abnormal ovarian morphology, Vesicouret...	ORPHA:95699
48,Xxyy Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Hypoplasia of penis, Broad jaw, Apne...	ORPHA:10
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ...	ORPHA:457395
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Horseshoe kidney	OMIM:613680
Acrofacial Dysostosis, Weyers Type	Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru...	ORPHA:952
Cornelia De Lange Syndrome 2	Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Highly arched eyebrow, Synoph...	OMIM:300590
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Downturned corners of mouth, ...	ORPHA:487796
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Thoracic platyspondyly, Metaphyseal widening, Squared iliac bones, Short long bone...	OMIM:618961
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Sandal gap, Single transverse palmar crease, Progeroid facial appearance, Micro...	OMIM:613177
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplas...	ORPHA:56304
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Abnormality of...	ORPHA:2759
Temtamy Syndrome	Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Clinodactyly of the 5th finger, A...	ORPHA:1777
Trisomy 4P	Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial hand polydactyly, ...	ORPHA:1738
Pallister-Hall-Like Syndrome	Death in infancy, Occipital encephalocele, Toe syndactyly, Median cleft lip, Micromelia, Microgna...	OMIM:241800
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Joubert Syndrome 10	Hirsutism, Postaxial polydactyly	OMIM:300804
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Micrognathia, Myelomeningocele, ...	ORPHA:2437
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Mitten...	OMIM:609638
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Biconvex vertebral bodies, Hypogonadotropic...	ORPHA:353298
Hypomelanosis Of Ito	Syndactyly, Alopecia, Hand polydactyly, Radial deviation of finger, Clinodactyly	OMIM:300337
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Micrognathia, Crypto...	ORPHA:3447
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3...	ORPHA:2712
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Postnatal growth retardation, Upper limb asymmetry, High palate, Polydactyly, Cl...	ORPHA:231140
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood	OMIM:616081
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Lumbar hyperlordosis, Metaphyseal wi...	OMIM:250420
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Submucous cleft soft palate, Cleft hard pala...	ORPHA:69085
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap...	ORPHA:199241
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Occipital encephalocele, Posta...	OMIM:619879
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal...	OMIM:144750
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower...	OMIM:620321
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Roifman Syndrome	Hip contracture, Short metacarpal, Biconvex vertebral bodies, Thin upper lip vermilion, Single tr...	OMIM:616651
Melnick-Needles Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Craniofaci...	ORPHA:2484
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Brachydactyly	ORPHA:221054
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Split hand, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Bra...	ORPHA:2850
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Abnormality of the bladder	ORPHA:247604
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,...	ORPHA:1786
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Optic atrophy, Aspiration pneumonia	OMIM:619057
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:241530
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Secondary ame...	ORPHA:3085
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Synophrys, Premature graying of hair, Cutaneous finger...	OMIM:148820
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Deep philtrum, Microdontia, Cryptorchidism, Thin lower lip vermilion, Retrognathia, Hip contractu...	OMIM:619194
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Renal hypoplasia, Respiratory insufficiency, Respiratory failure,...	OMIM:276950
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Increased density of lo...	OMIM:305620
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus...	ORPHA:2590
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal jo...	ORPHA:1145
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Hi...	OMIM:618419
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Long eyelashes, Generalized hirsutism, Thic...	ORPHA:1514
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate...	OMIM:119600
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Arachnodactyly, Decreased fibular diameter, Long fingers	OMIM:619489
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Severe Congenital Nemaline Myopathy	Hypospadias, Facial palsy, Facial diplegia, Respiratory failure, Pulmonary hypoplasia, Micropenis...	ORPHA:171430
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Short nail, Short thumb, Abnormal metacarpal morphology, Duplication of the dis...	ORPHA:973
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat...	ORPHA:747
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Micrognathia, E...	OMIM:617468
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly	ORPHA:1114
Acrofacial Dysostosis, Catania Type	Single transverse palmar crease, Carious teeth, Cryptorchidism, Short palm, Spina bifida occulta	OMIM:101805
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Exaggerated cupid's bow, Tapered finger, Micrognathia, Long fingers,...	OMIM:618659
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Facial palsy	OMIM:615348
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Joubert Syndrome 23	Polydactyly	OMIM:616490
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Bilateral cryptorchidism, Hypoplastic il...	OMIM:263650
Aarskog-Scott Syndrome	Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f...	ORPHA:915
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Narrow philtrum,...	ORPHA:163654
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Larsen Syndrome	Finger syndactyly, Cryptorchidism, Accessory carpal bones, Cleft palate, Vertebral segmentation d...	ORPHA:503
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Cryptorchidism, Short metatarsal, Advanced ossification ...	OMIM:614613
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Prematurely aged appearance, Micrognathia, Short ...	ORPHA:633
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Sparse hair, Dystroph...	ORPHA:3253
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, Sparse medial eyebrow, Oro...	OMIM:618804
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Cohen Syndrome	Short metacarpal, Single transverse palmar crease, Tapered finger, Micrognathia, Hypoplasia of th...	OMIM:216550
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Single transverse palmar crease, Micrognathia, Abnormal optic disc morpho...	ORPHA:96121
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Overlapping toe, Apnea, Hip dislocation, Elbow flexion contracture, Optic atroph...	OMIM:617301
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Sandal gap, Cryptorchidism, Thick lo...	OMIM:614607
Smith-Lemli-Opitz Syndrome	Dental crowding, Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndact...	OMIM:270400
Temple-Baraitser Syndrome	Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, Low anterior hairline,...	ORPHA:420561
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal pel...	ORPHA:1133
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M...	OMIM:213980
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Del...	OMIM:218400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,...	OMIM:123150
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Abnorma...	ORPHA:1825
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu...	OMIM:136760
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular ...	OMIM:271510
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Polyd...	ORPHA:137914
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Postaxial hand polydactyly, Foot polydactyly	ORPHA:2155
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench f...	OMIM:618870
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, High, n...	OMIM:122470
Satoyoshi Syndrome	Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of the hand, Ge...	OMIM:600705
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly	OMIM:604757
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Premature skin wrinkling, Adduct...	OMIM:616603
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Microdontia, Emphysema,...	ORPHA:289
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrol...	ORPHA:1816
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormality of nail color, Elbow dislocation, Coxa vara, Irregular epiphyse...	ORPHA:1824
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn...	OMIM:225060
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Tooth malposition, Renal hypoplasia, M...	OMIM:616541
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Snail-like ilia, Flat ac...	OMIM:269250
Trisomy 9P	Bilateral single transverse palmar creases, Dental crowding, Kyphosis, Non-midline cleft lip, Imp...	ORPHA:236
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Coxa valga, Micrognathia, Carious teeth, Cryptorch...	OMIM:214150
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Mi...	OMIM:616300
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Highly arched eyebrow, Short palm	OMIM:618522
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Rhizomelia, Thoracolumbar scol...	OMIM:618019
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Diastem...	OMIM:619142
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Clinodactyly of the 5th finger, A...	ORPHA:96264
Pallister-Hall Syndrome	Ectopic kidney, Abnormal lung lobation, Gonadotropin deficiency, Micropenis, Bifid uvula, Microre...	ORPHA:672
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Kyphosis,...	ORPHA:3219
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
8Q24.3 Microdeletion Syndrome	Branchial cyst, Respiratory distress, Ectopic posterior pituitary, Congenital hip dislocation, Si...	ORPHA:508488
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Cryptorchidism, Atrichia, ...	ORPHA:1867
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Cryptorchidism...	ORPHA:1194
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Sparse ...	OMIM:181270
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Split hand, Apnea, Respiratory failure	ORPHA:168486
Erythrokeratodermia Variabilis	Alopecia, Tapered finger, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generaliz...	ORPHA:317
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Pulmonary embolism, Clinodactyly of the 5th finger, A...	ORPHA:96263
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Abnorm...	ORPHA:2314
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol...	ORPHA:2673
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Thin upper lip vermilion, Brachydactyly, Hypogonadotropic hypogonadism, Genu valgum, Hypoplasia o...	ORPHA:1295
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Rin2 Syndrome	Irregular dentition, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchid...	ORPHA:217335
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Apne...	ORPHA:85201
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Ab...	OMIM:123450
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Gener...	ORPHA:1553
Dent Disease 1	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Cryptorchidism, Micrognathia, Short distal...	OMIM:620073
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha...	ORPHA:15
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, ...	ORPHA:3309
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Sandal gap, Kyphosis, Cryptorchidism, Thick lower lip vermilion, Small han...	OMIM:300354
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Amyotrophic late...	OMIM:613954
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Pierre-Robin sequen...	OMIM:215150
Heyn-Sproul-Jackson Syndrome	Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux	OMIM:235750
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation, Abnormal femur ...	ORPHA:2063
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Micrognathia, Synophrys, Low anteri...	ORPHA:199
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Toe syndactyly, Arachnodactyly, Hypospadias, Unilateral renal a...	ORPHA:464306
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Kury-Isidor Syndrome	Finger syndactyly, Tented upper lip vermilion, Rocker bottom foot, Proximal placement of thumb, H...	OMIM:619762
Non-Distal Deletion 10Q	Brachydactyly, Synophrys, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single t...	ORPHA:1581
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormality of the dentition, Abnormal thumb morphology, Abnormal to...	ORPHA:94065
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi...	OMIM:618506
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Amelogenesis imperfecta	OMIM:614727
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Branchial fistula, Toe syndactyly, Camptodactyly of finger, Unilateral ren...	ORPHA:261337
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera...	ORPHA:2890
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Malar flattening, Brachyda...	ORPHA:2145
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Cryptorchidism, Deep philtrum, Abnormality of the elbow, Thick lower lip vermilion...	ORPHA:2701
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Ectopic kidney, Neonatal death, Cystic renal dysplasia	OMIM:613730
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Tongue fasciculations, Respiratory failure, Tongue atrophy	OMIM:613435
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Split...	ORPHA:989
W Syndrome	Hypoplasia of the ulna, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus adductus, Submu...	ORPHA:2804
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Death in infancy, Hydroureter, Respiratory failure, Hydronephrosis	OMIM:618240
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Kyphosis, Abnormality of the elbow, Hip dis...	ORPHA:1005
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tented upper lip vermilion, Tapered finger, Optic atrophy, Narrow palate, Respiratory failure	OMIM:616505
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Disc-like vertebral bodies, Dumbbell-shaped long bone, Micromelia, Hyp...	OMIM:151210
Oculomaxillofacial Dysostosis	Brachydactyly, Median cleft lip, Camptodactyly of finger, Micrognathia, Abnormality of the humeru...	ORPHA:1794
Coffin-Siris Syndrome 6	Kyphoscoliosis, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum, C...	OMIM:617808
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Hypoplastic pubic bone, Flared metaph...	ORPHA:93346
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,...	OMIM:617604
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly	ORPHA:171866
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Cleft upper...	OMIM:305400
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, Cryptorchidism...	ORPHA:3304
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Stuve-Wiedemann Syndrome 1	Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Smooth tongu...	OMIM:601559
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Abnormal form of the ve...	ORPHA:1305
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Farber Disease	Respiratory distress, Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelectasis, Sh...	ORPHA:333
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long eyebrows, Tapered finger, Long fingers, Thick lower lip vermilion, Joint contracture of the ...	OMIM:614407
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Hyperparathyroidism, Short femur, Metaphyseal spurs, Unilateral renal agene...	OMIM:618188
Progressive Osseous Heteroplasia	Brachydactyly	ORPHA:2762
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o...	OMIM:181510
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Renal hypoplasia, Cleft p...	OMIM:246560
Tonne-Kalscheuer Syndrome	Decreased testicular size, Hypospadias, Micrognathia, Cryptorchidism, Velopharyngeal insufficienc...	OMIM:300978
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp...	OMIM:235510
Bent Bone Dysplasia Syndrome 1	Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Short cla...	OMIM:614592
Joubert Syndrome 16	Polydactyly	OMIM:614465
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe...	OMIM:613091
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Malar flattening, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphysi...	OMIM:300232
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p...	OMIM:614815
Chand Syndrome	Curly hair, Short fifth metatarsal, Hydroureter, Atelectasis, Cleft palate, Agenesis of permanent...	ORPHA:1401
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bilateral cryptorchidism, High, narrow palate, 2-3 toe syndactyly,...	ORPHA:485405
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Kyphoscoliosis, Tapered finger, Micrognathia, Narrow mouth, Carious teeth, Trismus, E...	OMIM:272430
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, 2-5 finger syndactyly, Optic disc pallor, Hypospadias, Camptodactyly of finger...	ORPHA:468631
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Heparan sulfate excretion in urine, Asthma, Split hand, R...	OMIM:309900
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Unilateral renal agenesis, Postaxial polydactyly, Abnormal ...	ORPHA:457284
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ...	OMIM:618381
Kleefstra Syndrome 1	Mandibular prognathia, Recurrent respiratory infections, U-Shaped upper lip vermilion, Natal toot...	OMIM:610253
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr...	ORPHA:454836
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Respiratory insufficiency, Respiratory failure, High palate, Beta-aminoisobutyric ...	OMIM:615330
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra...	OMIM:210720
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Vertebral se...	ORPHA:251014
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Thin upper lip vermilion, Single transverse palmar crease, Micrognathia, Pierre-Robin sequence, G...	OMIM:613604
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Malar prominence, Cone-shaped epiphysis, Palmoplantar keratoderma, ...	ORPHA:2824
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival...	OMIM:618529
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Abnormal metacarpal morphology,...	ORPHA:93262
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Thin upper lip vermilion, Single transverse palmar crease, Velopharyngeal insufficien...	OMIM:614701
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro...	ORPHA:2026
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me...	ORPHA:192
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy...	OMIM:141300
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, H...	OMIM:619148
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Pulmonary hypoplasia, Neonatal death, Micrognathia	OMIM:253310
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Syndactyly, Urinary incontinence	OMIM:615284
Congenital Myopathy 17	Ureteropelvic junction obstruction, Mandibular prognathia, Tented upper lip vermilion, Overlappin...	OMIM:618975
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Nephritis, S...	OMIM:208500
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,...	OMIM:269300
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Widow's peak, Brachydactyly	OMIM:266265
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow...	OMIM:108720
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Difficulty in tongue movements, Decreased compound muscle...	OMIM:606353
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Micrognathia, Downt...	OMIM:615761
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ectodermal dysplasia, Atrichia, Death in childhood, Neonatal death, Dystrophic fingernails, Death...	OMIM:308205
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Monosomy 5P	Microretrognathia, Finger syndactyly, High palate, Small hand	ORPHA:281
20P13 Microdeletion Syndrome	Finger syndactyly, Highly arched eyebrow, Synophrys, Polydactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C...	OMIM:620107
Bardet-Biedl Syndrome 19	Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals	OMIM:615996
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Short palm, Thoracic he...	OMIM:268310
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass ...	ORPHA:99931
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Sarcoidosis, Susceptibility To, 2	Facial palsy, Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial mo...	OMIM:612387
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi...	OMIM:618825
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Renal dysplasia, Tapered toe, Death in infan...	OMIM:608836
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, ...	ORPHA:568
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Sandal gap, Single transverse palmar crease, Dental c...	OMIM:617061
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnor...	ORPHA:1782
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Ureteral s...	OMIM:309350
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Congenital laryngeal stridor, Degeneration of anterior horn cells, Respiratory fai...	ORPHA:2254
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Hypoplastic ischia	OMIM:616910
Lowry-Maclean Syndrome	Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High...	ORPHA:2409
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Zttk Syndrome	Curly hair, Absent gallbladder, Unilateral lung agenesis, Polyuria, Unilateral renal agenesis, Ab...	OMIM:617140
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Spina bifida occulta, Bif...	OMIM:218600
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate...	OMIM:166250
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac...	OMIM:607131
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe...	OMIM:620233
Joubert Syndrome 33	Syndactyly	OMIM:617767
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Hypogonadotropic hypogonadism,...	ORPHA:570
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up...	OMIM:225500
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Thin upper lip vermilion, Cryptorchidism, Short thumb, Lo...	ORPHA:401935
Penoscrotal Transposition	Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in...	OMIM:602088
Chime Syndrome	Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:3474
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Short philtrum, Hypoplasia of the thymus, Vesicoureteral re...	ORPHA:567
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Selective tooth agenesis, Abnormal dental enam...	ORPHA:2909
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary...	ORPHA:330012
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary...	ORPHA:36238
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flatten...	ORPHA:86818
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho...	ORPHA:3194
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Respiratory insuf...	ORPHA:375
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:602099
Dystonia 31	Abnormal posturing	OMIM:619565
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma...	ORPHA:364028
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr...	OMIM:606070
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Resp...	OMIM:224410
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Hypoplastic ilia, M...	ORPHA:1865
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Cerebellofaciodental Syndrome	Single transverse palmar crease, Tapered finger, Dental malocclusion, Shortening of all distal ph...	OMIM:616202
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti...	ORPHA:2222
Monosomy 18P	Kyphoscoliosis, Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short phi...	ORPHA:1598
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul...	OMIM:226960
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Frontotemporal hypertrichosis, Metaphyseal widening, A...	OMIM:263210
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ...	OMIM:304120
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Intermediate Nemaline Myopathy	Facial palsy, High, narrow palate, Facial diplegia, Respiratory failure, Long philtrum	ORPHA:171433
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Sparse hair, Absent eyebrow, Alopecia, Abnormality of the kidney, Abnormality of the upper urinar...	ORPHA:2273
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Hypospadias, Unilateral renal agenesis, Tapered finger, Cryptorchidism, Short ...	ORPHA:464311
Coffin-Siris Syndrome 3	Sparse scalp hair, Thick eyebrow, Short distal phalanx of the 5th finger, Cleft palate, Wide mout...	OMIM:614608
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Narrow mouth, Delayed eruption of permanent teeth, Short distal phalanx of toe, Mic...	OMIM:619356
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv...	ORPHA:2025
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Hypoplastic facial bones, Overtubulated long b...	OMIM:619793
Periventricular Nodular Heterotopia 7	Microretrognathia, Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2n...	OMIM:617201
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Clubbing of fingers, Gingival bleeding, Micropenis, Bruising ...	ORPHA:335
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Optic atrophy, Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, M...	OMIM:180860
Joubert Syndrome 27	Polydactyly	OMIM:617120
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Cra...	OMIM:259710
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal ...	OMIM:182290
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor...	OMIM:620250
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Abnormal eyelash morphology, Cryptorchidism, Non-midline cleft lip, Optic atro...	ORPHA:1252
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Genitopalatocardiac Syndrome	Micrognathia, Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cleft ...	ORPHA:2075
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Abnormal oral mucosa morphology, Renal cyst, Aplasia/Hy...	ORPHA:79404
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Hypogonadism, Short fin...	OMIM:103580
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly ...	ORPHA:2636
Hepatic Veno-Occlusive Disease	Renal insufficiency, Respiratory failure, Jaundice	ORPHA:890
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchi...	OMIM:613390
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Atelectasis, Dyspnea, E...	ORPHA:538
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Urinary incontinence, Abnormality of the hand	OMIM:221770
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Micrognathia, Cryptorchidi...	ORPHA:171839
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Short...	OMIM:268400
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac bones, Supernu...	OMIM:614376
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Facial palsy, Cryptorchi...	ORPHA:98905
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Cranioectodermal Dysplasia 4	Thin vermilion border, Smooth philtrum, Taurodontia	OMIM:614378
Mosaic Trisomy 1	Single transverse palmar crease, Renal cyst, Orofacial cleft, Finger clinodactyly, Pulmonary arte...	ORPHA:1692
Vitamin K Antagonist Embryofetopathy	Punctate vertebral calcifications, Macroglossia, Epiphyseal stippling, Short distal phalanx of fi...	ORPHA:1914
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly	OMIM:602501
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Spa...	ORPHA:1433
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Jansen-De Vries Syndrome	Thin upper lip vermilion, Hyperlordosis, Small hand, Short foot, Wide mouth, Brachydactyly	OMIM:617450
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus	OMIM:150260
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ...	OMIM:100800
Al-Raqad Syndrome	Narrow mouth, Thin upper lip vermilion, Sandal gap, Brachydactyly	OMIM:616459
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Dislocated radial he...	ORPHA:2839
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Prematurely aged appearance, Sparse e...	ORPHA:2067
Ear-Patella-Short Stature Syndrome	Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, H...	ORPHA:2554
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and ...	ORPHA:1997
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Neonatal death, Microdontia, Long h...	OMIM:259775
Acrocraniofacial Dysostosis	Tapered finger, Coxa valga, Micrognathia, Cleft palate, Ulnar deviation of finger, Genu valgum, P...	ORPHA:949
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Premature loss of t...	OMIM:224300
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f...	OMIM:617809
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Renal Tubular Dysgenesis	Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Renotubular dysgen...	ORPHA:3033
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ...	ORPHA:217346
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Recurrent respiratory infections, Thin upper lip vermilion, Overlapping toe, Hypospadia...	OMIM:618316
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Facial palsy, Macroglossia, Respiratory failure, Shoulder girdle muscle weakness, Restrictive ven...	OMIM:606612
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Abnormality of the temporomandibular joint, Facial palsy, Protruding tongue, Ate...	ORPHA:258
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow, Large placen...	ORPHA:254528
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High palate, Abnormal e...	ORPHA:1784
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Kyphoscoliosis, High palate, Clinodactyly of the 5th finger, Cubitus valgus, R...	OMIM:620237
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal renal morphology, Abnormal res...	ORPHA:449280
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop...	ORPHA:2746
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ...	OMIM:614753
Pitt-Hopkins Syndrome	Aganglionic megacolon, Single transverse palmar crease, Supernumerary nipple, Tapered finger, Cry...	ORPHA:2896
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Blepharocheilodontic Syndrome 2	Distichiasis, Cutaneous syndactyly	OMIM:617681
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux,...	OMIM:600987
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral fusion, Scapu...	OMIM:272460
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Temtamy Syndrome	Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Talipes equin...	OMIM:218340
Alg6-Cdg	Macroglossia, Scoliosis, Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral de...	OMIM:166220
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Femoral bowing,...	OMIM:617952
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Single transverse palmar crease, Cryptorchidism, Thi...	OMIM:618950
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand...	ORPHA:420794
Cockayne Syndrome	Dry hair, Urinary incontinence, Abnormal dental morphology, Cryptorchidism, Renal hypoplasia, Age...	ORPHA:191
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do...	ORPHA:261494
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Thic...	OMIM:220500
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Synophrys, Short phalanx ...	OMIM:615777
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Pierre-Robin sequ...	ORPHA:93296
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Cyanosis, Sudden...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Recurrent respiratory infections, Congenital hip dislocation, Cyanosis, Sudden...	ORPHA:590
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Abnormality of the kidney, Renal agenesis, Proteinuria, Aganglionic megacolon, Ch...	ORPHA:261222
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Lacticaciduria, Methylmalonic aciduria, Respirat...	OMIM:245400
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Neurogenic bladder, Congenital hip dislocatio...	ORPHA:496641
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex...	ORPHA:2920
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, M...	OMIM:612651
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis, Abnormal palate morphology	ORPHA:251046
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, High palate, Widely spaced te...	OMIM:143095
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp...	OMIM:614922
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Apnea, Pulmonary hypoplasia	OMIM:615228
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Optic atrophy, Hydronephrosis, Abnormal autonomic nervous system physiology	OMIM:598500
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Alopecia, Aganglionic megacolon, Optic nerv...	ORPHA:85284
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Upper lim...	OMIM:607323
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Supernu...	ORPHA:800
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,...	ORPHA:1716
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy	OMIM:304700
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hem...	ORPHA:2038
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, High anterior hairline, Cutaneous syndactyly, Neural tube defect,...	OMIM:119580
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Specific Granule Deficiency 2	Brachydactyly, Sandal gap, Conical tooth, Tooth malposition, Amelogenesis imperfecta	OMIM:617475
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Short hallux, Unilateral renal agenesis, ...	OMIM:620305
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Upper limb undergrowth	OMIM:613124
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Advanced ...	ORPHA:818
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Leigh Syndrome	Optic atrophy, Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration, H...	OMIM:256000
Trisomy 20P	Micrognathia, Low anterior hairline, Downturned corners of mouth, Coarse hair, Short philtrum, Mi...	ORPHA:261318
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Optic atrophy, Thin ...	ORPHA:3255
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Thanatophoric Dysplasia	Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Respiratory insuffic...	ORPHA:2655
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Hypospadias, Cleft soft palate, Unilateral ren...	ORPHA:268261
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint...	OMIM:618914
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Urinary incontinence	OMIM:607225
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Kyphoscoliosis, Short foot, Hammertoe, Camptodactyly, Clinodactyly, ...	OMIM:275900
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Postnatal growth retardation, Cleft palate, Short 5th finger, Polydacty...	ORPHA:397590
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str...	ORPHA:93357
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Frontal balding, Micrognathia, Long fingers, High, narrow palate, Syno...	ORPHA:96092
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu...	OMIM:605711
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Short hallux, Abnormality of the dentit...	ORPHA:3224
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Optic atrophy,...	OMIM:614800
Meckel Syndrome, Type 10	Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd...	OMIM:614175
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves...	ORPHA:2237
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Hyperlordosis, Kyphosis,...	ORPHA:582
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Synophrys, Widow...	OMIM:620072
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Retrognathia	ORPHA:314621
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Urinary incontinence, Tibial bowing, Femoral bow...	OMIM:616482
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure	ORPHA:1861
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hyperlordosis, ...	ORPHA:794
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Methylmalonic Acidemia With Homocystinuria Type Cblf	Methylmalonic aciduria, Unilateral renal agenesis	ORPHA:79284
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Renal agenesis, Optic nerve hypoplasia, Hip dislocation...	OMIM:615583
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox...	OMIM:617425
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyse...	OMIM:253000
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Hypopl...	OMIM:187600
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Kyphoscoliosis, Carious teeth, Hypodo...	OMIM:612079
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Renal hypoplasia, Cleft pal...	OMIM:614083
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the...	ORPHA:2994
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5...	ORPHA:2710
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Low anterior hairlin...	ORPHA:235
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ...	ORPHA:90652
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Downturned corners of mouth, Short philtrum,...	ORPHA:500150
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Cleft palate, Slender long bone, Retrognathia, Brachydactyly	OMIM:618265
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Cleft palate, Camptodactyly, Clinodactyly of t...	OMIM:619123
17Q12 Microduplication Syndrome	Finger syndactyly, Synophrys, Toe syndactyly	ORPHA:261272
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Cl...	ORPHA:1752
Bone Marrow Failure Syndrome 3	Micrognathia, Oral ulcer, Downturned corners of mouth, Hypodontia, Hernia, Microdontia, Enamel hy...	OMIM:617052
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Dental malocclusion, Gingival over...	OMIM:616894
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial...	ORPHA:476126
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Platyspondyly, Bilateral t...	OMIM:601356
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Branchial cyst, Thin upper lip vermilion, Hypospadias, ...	ORPHA:435938
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Median cleft lip, Alopecia totalis, Renal hypoplasia/aplasia, ...	ORPHA:1234
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Aplasia of the pectoralis major muscle, Pierre-Ro...	ORPHA:1358
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow...	OMIM:166200
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Dental malocclusion, Slender long bone, Short 5th fi...	OMIM:612921
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Lacticaciduria, Aminoaciduria, Respiratory failure	OMIM:619386
Pelger-Huet Anomaly	Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd...	OMIM:169400
Spastic Paraplegia 9A, Autosomal Dominant	Urinary incontinence, Urinary urgency, Abnormal pelvic girdle bone morphology, Abnormal upper mot...	OMIM:601162
Bohring-Opitz Syndrome	Micrognathia, Low anterior hairline, Vesicoureteral reflux, Dislocated radial head, Syndactyly, N...	OMIM:605039
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Facial palsy, Micrognathia, High, narrow palate, Facial hyperostosis, ...	ORPHA:2780
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metata...	OMIM:305600
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Hyperlordosis, Abnormal form of the vertebral bodies, Brac...	ORPHA:3218
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Cleft upper lip, Cleft palate, Polydactyly, Talipes equin...	OMIM:613885
Roifman-Chitayat Syndrome	Short metacarpal, Pneumonia, Ectopic kidney, Thin lower lip vermilion, Optic atrophy, Short metat...	OMIM:613328
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,...	ORPHA:1001
Kbg Syndrome	Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Abnormal hair pattern, Cr...	ORPHA:2332
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Syngap1-Related Developmental And Epileptic Encephalopathy	Impaired social interactions, Postaxial polydactyly	ORPHA:544254
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Irregular dentition, Pulmonary lymphangiectasia, Narrow mouth, Camptodactyly	OMIM:616006
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Renal malrotation, Sparse scalp hair, Decreased response to growth hor...	OMIM:615866
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger c...	ORPHA:2754
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Widely spaced teeth, Clinodactyly, Retrognathia	OMIM:619092
Recon Progeroid Syndrome	Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement of thumb, Proge...	OMIM:620370
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Finger syndactyly, Multicystic kidney dysplasia, Alopecia, Abnor...	ORPHA:2092
Ulbright-Hodes Syndrome	Respiratory distress, Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short met...	ORPHA:3404
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Cryptorchidism, Gingival overgrowth, Patellar hypoplasia, Thin vermilion...	ORPHA:464288
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co...	ORPHA:391408
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Cl...	OMIM:603194
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Functional abnormality of the bladder, Myelitis	ORPHA:71211
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:3220
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Sparse eyelashes, Abnormal dental enamel morphology...	ORPHA:1071
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge...	OMIM:619721
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Micrognathia, Tapered finger, P...	OMIM:613792
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Arterial Tortuosity Syndrome	Respiratory distress, Long palm, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular necros...	ORPHA:3342
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
Distal Duplication 5Q	Hypoplasia of the ulna, Absent thumb, Micrognathia, Cryptorchidism, Carious teeth, Hypoplasia of ...	ORPHA:96097
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Sparse eyebrow, ...	ORPHA:73246
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Poems Syndrome	Papilledema, Metaphyseal sclerosis, Respiratory insufficiency due to muscle weakness, Leukonychia...	ORPHA:2905
Immunodeficiency 9	Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Coxa valga, Epiphyse...	OMIM:253010
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, 2-3 toe syndactyly...	OMIM:614099
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode, Bilateral talipes equinovarus, Micrognathia	ORPHA:284417
Teebi-Shaltout Syndrome	Single transverse palmar crease, High, narrow palate, Low anterior hairline, Oligodontia, Sparse ...	OMIM:272950
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micrognathia, Wido...	OMIM:145420
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Fractured radius, Hypospadias, Decreased fibular diameter, Micrognathia, Flared meta...	OMIM:616897
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Tibial Muscular Dystrophy	Distal upper limb muscle weakness, Weakness of long finger extensor muscles, Respiratory failure	ORPHA:609
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Autosomal Dominant Cutis Laxa	Prematurely aged appearance, Unilateral renal agenesis, Hip dislocation, Bronchiectasis, Pyelonep...	ORPHA:90348
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, Thick lower l...	OMIM:618342
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Congenital hip dislocation, Tapered finger, Hyperlordosis, Micrognathia, D...	OMIM:616007
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Kniest Dysplasia	Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Flared m...	OMIM:156550
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Brachydactyly, Hypoplasia of the maxilla, Crypt...	ORPHA:2588
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Unilateral renal agenesis	OMIM:620024
Cockayne Syndrome Type 3	Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Dry hair, Unilateral ren...	ORPHA:90324
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal agenesis, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, Micrognathi...	ORPHA:2516
Ciliary Dyskinesia, Primary, 1	Pneumonia, Absent frontal sinuses, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,...	OMIM:244400
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Facial hirsutism, Cubitus valgus, High anterior hairli...	ORPHA:247768
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Pneumonia, Carious teeth, Metaphyseal widening, ...	OMIM:253200
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Widow's peak, Hand polydactyly, Broad thumb	OMIM:239710
Diaphanospondylodysostosis	Respiratory distress, Nephrogenic rest, Micrognathia, Nephroblastomatosis, Horseshoe kidney, Clef...	OMIM:608022
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea...	OMIM:220110
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Death in infancy, Increased urinary sulfite level, F...	OMIM:272300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Low anterior hairline, ...	ORPHA:73272
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Renal agenesis, Bronchitis, Cle...	ORPHA:1199
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Cryptorchi...	OMIM:300963
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaciduria, High palate, D...	OMIM:214100
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Micrognathia, High, narrow palate, Narrow mouth, Cryptorchidism, Ren...	OMIM:248700
White Forelock With Malformations	Finger syndactyly, Deep philtrum, White forelock, Clinodactyly of the 5th finger, Spina bifida oc...	ORPHA:2475
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Protruding tongue, Cryptorchidism, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal ph...	OMIM:612938
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth	ORPHA:2760
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypopla...	OMIM:300534
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Sparse scalp hair, Aganglionic megacolon, Hypospadias, Sparse eyebrow, Cleft p...	ORPHA:66629
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Neonatal respiratory distress, Hypospadias, Miscarriage, Decreased response ...	ORPHA:96179
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormal pelvis bone ossi...	ORPHA:166119
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Low anterior hairline...	ORPHA:369891
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Pulmonary ...	OMIM:619003
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Kyphoscol...	ORPHA:488642
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Abnormality of the dentition,...	OMIM:614813
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Renal cyst, Death in infancy	OMIM:614862
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Sparse scalp hair, Proximal placement of thumb, Sparse eyebrow, Talipes ...	OMIM:615789
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Supernumerary nipple, Cleft upp...	OMIM:612530
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Respiratory distress, Irregular iliac...	ORPHA:99646
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder, Urinary incontinence, Orthostatic hyp...	OMIM:263570
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand	OMIM:146160
Acrorenal-Mandibular Syndrome	Micrognathia, Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Split foot...	OMIM:200980
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Gingival bleeding, E...	ORPHA:449285
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Kabuki Syndrome 2	Natal tooth, Highly arched eyebrow, Micrognathia, Lower lip pit, Hip dislocation, Dental malocclu...	OMIM:300867
Zaki Syndrome	Sparse scalp hair, Toe syndactyly, Renal agenesis, Micrognathia, Sparse eyebrow, Long fingers, Wi...	OMIM:619648
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Sparse ...	OMIM:139210
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Kyphoscoliosis, Deep philtrum, Macroglossia, Long philtrum, High palate, Talipes...	ORPHA:397709
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of...	OMIM:619269
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Facial erythema, High palate, Microdontia, Sparse hair, Short phalanx of fin...	ORPHA:221016
Ring Chromosome 21 Syndrome	Syndactyly, Clinodactyly, Small hand, Narrow palm	ORPHA:1445
Cryofibrinogenemia, Familial Primary	Hematuria, Acrocyanosis, Transient nephrotic syndrome	OMIM:123540
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of...	OMIM:274000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor...	OMIM:615630
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac...	ORPHA:3103
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin...	ORPHA:391474
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala...	OMIM:300373
Acro-Renal-Ocular Syndrome	Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall...	ORPHA:959
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Pu...	OMIM:314390
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Supern...	OMIM:263750
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Sh...	OMIM:212720
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Papilledema, Facial palsy, 2-3 finger syndactyly, Optic atroph...	OMIM:269500
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Phocomelia, Split hand, Foot polydactyly	ORPHA:3004
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, 2-3 toe cutane...	OMIM:300166
Sotos Syndrome	Mandibular prognathia, Abnormality of the kidney, Sparse eyebrow, High, narrow palate, Cryptorchi...	OMIM:117550
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles	OMIM:614373
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Micrognathia, Dental ...	OMIM:269880
Lymphedema-Hypoparathyroidism Syndrome	Hypertrichosis, Increased carrying angle, Brachydactyly	OMIM:247410
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Schimke Immuno-Osseous Dysplasia	Microdontia, Abnormal primary molar morphology, Hypodontia	ORPHA:1830
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Optic atrophy, Wi...	ORPHA:60040
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Ane Syndrome	Alopecia, Ulnar deviation of the hand, Decreased response to growth hormone stimulation test, Red...	ORPHA:157954
Scarf Syndrome	Umbilical hernia, Enamel hypoplasia, Inguinal hernia, Long philtrum	OMIM:312830
Distal Deletion 12Q	Median cleft lip, Broad hallux, Single transverse palmar crease, Overlapping toe, Micrognathia, H...	ORPHA:96149
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radial h...	OMIM:265000
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Respiratory failure, Shoulder girdle muscle weakness, N...	OMIM:603689
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Clinodactyly of the 5th f...	ORPHA:2750
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty...	ORPHA:97360
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Protruding tongue, Abnormality of the den...	ORPHA:870
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urina...	OMIM:205100
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth, Hip dyspla...	ORPHA:531151
Xfe Progeroid Syndrome	Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring	OMIM:610965
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Finger ...	ORPHA:93932
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Micrognathia, Optic atrophy, Flared metaphysis, Gingival overgro...	OMIM:259720
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Malar flattening, Short phalanx of finger, ...	OMIM:600430
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Facial erythema, Sparse hair, Microdontia, Short phalanx of finger, Genu var...	ORPHA:221008
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Micrognathia, Dilatation of the renal pelvis, Horsesho...	ORPHA:314588
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Lujo Hemorrhagic Fever	Respiratory distress, Renal insufficiency, Crackles, Atelectasis, Nonproductive cough, Oliguria, ...	ORPHA:319213
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis, Nephrot...	ORPHA:488627
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Trapezoidal vertebral body, Short phalanx of finger, Brachydactyly	OMIM:600092
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder	ORPHA:2547
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Clinodactyly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Clinodactyly of t...	OMIM:280000
Joubert Syndrome 7	Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum	OMIM:611560
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Micromelia, Aplasia of the ulna, Mi...	ORPHA:2879
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic...	ORPHA:1225
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Zygomycosis	Renal insufficiency, Sinusitis, Epistaxis, Rhinorrhea, Atelectasis, Pneumothorax, Pulmonary infil...	ORPHA:73263
Adnp Syndrome	Respiratory distress, Single transverse palmar crease, Urinary incontinence, Abnormal finger morp...	ORPHA:404448
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Holoprosencephaly-Craniosynostosis Syndrome	Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short distal phalanx of...	ORPHA:2163
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure, Long philtrum	OMIM:312170
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Platyspondyly, Abnormal metaphysis morphology, Brachydactyly	ORPHA:93274
Macs Syndrome	Eclabion, Irregular dentition, Hypergonadotropic hypogonadism, Single transverse palmar crease, M...	OMIM:613075
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, High, narrow palate, High palate, Short philtrum, Long philtrum, Retrognathia, Smoo...	OMIM:620156
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Bilateral single transverse palmar creases, Non-midline cleft lip, C...	ORPHA:1770
Adams-Oliver Syndrome 5	Syndactyly, Dystrophic toenail, Brachydactyly	OMIM:616028
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Sparse hair, Clinodactyly, Hirsutism	OMIM:618087
Chitayat Syndrome	Hallux valgus, Thick vermilion border, Brachydactyly	OMIM:617180
Progeria-Short Stature-Pigmented Nevi Syndrome	Thoracic scoliosis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Selective to...	ORPHA:2959
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup...	OMIM:617088
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Cleft ...	OMIM:617925
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Respiratory failure	ORPHA:70472
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly...	ORPHA:464
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol...	ORPHA:803
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Micrognathia, Cryptorchidism, High...	ORPHA:96182
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:615989
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Thick lower lip vermilion, Downturned corners of mouth, Wide mouth, Sho...	OMIM:618027
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ...	OMIM:180849
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Cle...	OMIM:220210
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis, Clubbing	ORPHA:439
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Abnormal finger morphology, Lo...	ORPHA:79500
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Tetraphocomelia, Hypoplastic vertebral bodie...	OMIM:215140
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Respiratory failure, Optic atrophy, Abnormality of somatosens...	ORPHA:98755
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Congenital hip dislocation	OMIM:614450
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Myoclonic-Astatic Epilepsy	Syndactyly, Thin upper lip vermilion, Frontal balding, Thick lower lip vermilion, Wide mouth, Lon...	ORPHA:1942
You-Hoover-Fong Syndrome	Accessory oral frenulum, Kyphoscoliosis, Cleft palate, Clinodactyly, Brachydactyly	OMIM:616954
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormal fibula morphology, Tibial bowing,...	ORPHA:3035
Microphthalmia, Syndromic 12	Micrognathia, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Neonatal death, Retrognathia	OMIM:615524
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Single transverse...	OMIM:247200
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Deep philtrum, 2-3 toe syndactyly,...	ORPHA:404440
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Hypospadias, Proximal placement ...	OMIM:217980
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Brachydactyly, Prominent superficial veins, Prematurely aged appearanc...	OMIM:601812
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Abnormal thumb morphology, Carious teeth, Hypodontia...	OMIM:620192
Bladder Exstrophy	Hypoplasia of penis, Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, V...	ORPHA:93930
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Aganglionic megacolon, Abnormality of the kidney, Postaxia...	OMIM:209900
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Cerebellar-Facial-Dental Syndrome	Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long philtrum, Macrodo...	ORPHA:444072
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Highly arched eyebrow, Abnormality of the...	ORPHA:178303
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Recurrent respiratory infections, Congenital hip dislocation, Dental crowding, H...	ORPHA:2020
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:615546
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, Micrognathia, Tapered finger, High, narrow palate, Wid...	OMIM:619312
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Small hand, Clinodactyly of the 5th finger, Retrognathia, ...	OMIM:616489
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Bilobed...	OMIM:612284
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Recurrent respiratory infections, Hypospadias, Death in i...	ORPHA:7
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Cyanosis, Overlapping toe, Partial anomalous pulmonary ven...	OMIM:617478
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Decreased response to growth...	ORPHA:79444
Schinzel-Giedion Syndrome	Respiratory distress, Micrognathia, Abnormality of the gingiva, Renal cyst, Tibial bowing, Short ...	ORPHA:798
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Re...	ORPHA:79139
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney, Respiratory failure	ORPHA:79327
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Toe syndactyly, Single transverse palmar crease, Proximal placement of ...	OMIM:610759
Celiac Disease, Susceptibility To, 1	Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis	OMIM:212750
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Pulmonary hypoplasia, Talipes equinovarus, Retrognathia, R...	OMIM:191830
De Barsy Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Proger...	ORPHA:2962
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Hypospadias, Limited elbow movement, Unilateral renal ag...	OMIM:151100
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure, Generalized hirsutism	ORPHA:363400
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal form of the vertebral bodies,...	ORPHA:2021
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Abnormal hair pattern, Highl...	ORPHA:2083
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Delayed eruptio...	OMIM:619322
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Central hypoventilation, Optic atrophy, Apnea	OMIM:618233
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph...	ORPHA:536471
Craniosynostosis And Dental Anomalies	Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, H...	OMIM:614188
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad thumb, Brachydactyly	OMIM:617763
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia	OMIM:243150
Distal Deletion 10Q	Thin upper lip vermilion, Scapular winging, Lumbar hyperlordosis, Sandal gap, Single transverse p...	ORPHA:96148
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Enlarged ovaries, Dental crowding, Th...	ORPHA:769
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Generalized hirsutism, Short distal phalanx of finger	ORPHA:1563
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Apnea, Cyanosis, Optic atrophy, Renal steatosis	OMIM:261680
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Absent toe, Split hand, Absent hand, Abnormality of t...	ORPHA:974
Huntington Disease-Like 1	Abnormal shoulder morphology, Abnormal posturing	ORPHA:157941
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
4H Leukodystrophy	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Abnormality of ...	ORPHA:289494
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hypospadias, Renal agenesis, Abnormal tibia morphology, Split ...	ORPHA:1335
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cryptorchidism,...	OMIM:607812
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephalocele, Microme...	ORPHA:1908
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr...	OMIM:601701
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Abnormality of the dentition, Cryptorchidism, Broad palm, Wide...	OMIM:618505
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Alopecia, Proteinuria, Atelectasis, Dyspnea, Erythema, Hemat...	ORPHA:728
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Meningocele, Abnormality...	ORPHA:2311
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Kagami-Ogata Syndrome	Micrognathia, Coxa valga, Long fingers, Hypoplasia of the maxilla, Pulmonary hypoplasia, Long phi...	OMIM:608149
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Optic atrophy, Hip dislocation, Oligodontia, Hypodontia	OMIM:614381
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Rocker bottom foot, Tapered finger, Cryptorchidism, Narrow mouth, Cleft...	OMIM:601353
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Proteinuria, Pneumonia, Decreased response to g...	ORPHA:1855
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Abnormal rena...	ORPHA:59315
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognat...	ORPHA:50945
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Apnea, Pre...	ORPHA:667
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Nephrolithiasis	ORPHA:352447
Ring Chromosome 12 Syndrome	Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Cryptorchidism, Glandular hyposp...	ORPHA:1439
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi...	OMIM:615873
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cryptorchidism, Deep phi...	OMIM:618143
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Palmoplantar hyperkeratosis, Gingivitis, Dystrophic fingernails, Fing...	ORPHA:2907
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde...	OMIM:109400
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Adrenocorticotr...	OMIM:609981
Pachyonychia Congenita	Respiratory distress, Natal tooth, Alopecia, Angular cheilitis, Palmoplantar keratoderma, Palmopl...	ORPHA:2309
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Boutonneuse Fever	Abnormal skin morphology of the palm, Renal insufficiency, Respiratory failure, Petechiae	ORPHA:83313
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del...	ORPHA:1652
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Micrognathia, Sparse hair, Prominent fingertip ...	OMIM:305450
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, Neural tube defect, Hi...	ORPHA:79321
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Brachydactyly	OMIM:614261
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Glutaric aciduria, Dyspnea, Lacticaciduria, Cardiorespiratory arrest, Restricti...	ORPHA:26791
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Cutaneous syndactyly, Micropenis, Pleural effusion, High palate, T...	OMIM:617822
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced te...	OMIM:617865
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Pulmonary infiltrates, Restrictive...	OMIM:233450
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Cleft pala...	ORPHA:1318
Vacterl/Vater Association	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis...	ORPHA:887
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Tapered finger, Lon...	ORPHA:521445
Hsd10 Disease, Infantile Type	Cyanosis, Abnormal concentration of acylcarnitine in the urine, Optic atrophy, Abnormality of the...	ORPHA:391428
Prader-Willi Syndrome Due To Translocation	Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Bifid uvu...	ORPHA:177907
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Tooth agenesis, Abnormal epiphysis morphology, Scolios...	ORPHA:2637
Proboscis Lateralis	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Abnormal location of the eyebrow,...	ORPHA:141099
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Cutaneous fing...	OMIM:224690
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Sinusitis,...	ORPHA:183
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Cervical myelopathy, Syringomyelia, Inspiratory stridor	OMIM:207950
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Elbow dislocati...	ORPHA:2769
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia	ORPHA:1756
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Hypoplasia of the maxilla, Broad palm, Narrow palate, Scoliosis, Broad phal...	OMIM:277600
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Scoliosis, Brachydactyly	OMIM:619995
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Micrognathia, Short toe, Abnormal lung lobation, ...	OMIM:617667
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Decreased response to growth...	ORPHA:79443
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Renal cyst,...	OMIM:615636
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Single transverse pa...	OMIM:229850
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Mandibular prognathia, Death in infancy, Respiratory distress, Respiratory failure, High palate, ...	OMIM:620278
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Natal tooth, Overlapping toe, Hypospadias, Optic atrophy, Gingival overgrow...	OMIM:123790
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the kidney, Tracheomalacia, Tapered finger, Abnormality of the dentit...	ORPHA:261652
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Downturned corners of mouth, Short palm, M...	OMIM:176270
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Low posterior hairline, ...	ORPHA:1323
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Abnormality of the elbow, Slender long bone, Pulmonary hypoplasia, Abnormal hip bon...	ORPHA:1486
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Short metatarsal, P...	OMIM:601358
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Postaxial polydactyly, Hamartoma of tongu...	OMIM:174300
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowth, Short cla...	ORPHA:313855
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Sparse scalp hair, Optic nerve hypoplasia, Micrognathia, Narrow mouth, ...	OMIM:620029
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl...	OMIM:615512
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Hypospadias, Aganglionic megacolon, Med...	ORPHA:2059
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Hyperechog...	OMIM:617914
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine...	ORPHA:542323
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Thyroid dy...	ORPHA:209905
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Dilatation of the renal pelvis, Optic atrophy, Bronchiectasis, Interstitial emphyse...	OMIM:619708
Mosaic Trisomy 16	Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Abnormal lung morphology, ...	ORPHA:1708
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anterior pituitary hypoplasia, Micrognath...	ORPHA:264200
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Lethal Congenital Contracture Syndrome 10	Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short long bone, High palate, Talipes ...	OMIM:617022
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Femoral bowing, Stillbirth, Talipes equinovarus, Pulmonary hypoplasia, Cy...	OMIM:615415
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Natal tooth, Sparse scalp hair, Proteinuria, Sparse eyelashes, Micrognathia, Sp...	OMIM:616901
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi...	ORPHA:1112
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clinodactyly of t...	ORPHA:1292
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Meckel Syndrome, Type 1	Occipital encephalocele, Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchid...	OMIM:249000
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega...	OMIM:236700
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Sparse eyebrow, Metaphyseal chondrodys...	OMIM:250410
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Hemivertebrae, Vertebral...	ORPHA:2911
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Hypospadias, Cryptorchidism, Synophrys, Cleft palate, ...	ORPHA:254346
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micr...	OMIM:616367
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Apnea, Protruding tongue	OMIM:619580
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ...	OMIM:300990
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Curly eyelashes, Low anterior ...	ORPHA:1517
Amyotrophic Lateral Sclerosis 19	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:615515
Timothy Syndrome	Thin upper lip vermilion, Pneumonia, Bronchitis, Cutaneous syndactyly, Microdontia, Pulmonary art...	OMIM:601005
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Spars...	OMIM:620186
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:604292
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth, Lipoma	ORPHA:247806
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Persistence of primary teeth, Erythema, Recurrent pneumonia, ...	OMIM:147060
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Oligo...	OMIM:612289
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Hypospadia...	ORPHA:1465
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Facial palsy, Respiratory insufficiency, High palate, Pulmonary...	OMIM:255320
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Micrognathia, Cryptorchidism, Cleft palate, Respiratory insufficiency, P...	ORPHA:994
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Neonatal respiratory distress, Camptodactyly of finger, M...	ORPHA:2990
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Ectopic kidney, Conical tooth, Prominent interphalange...	OMIM:135900
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Curly hair, Limited elbow movement,...	OMIM:218040
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Irregular epiphyses, Mesomelia, Cli...	OMIM:618162
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Abnormality of the dentiti...	OMIM:304110
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia	ORPHA:3032
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talon ...	ORPHA:353277
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Short proxim...	ORPHA:261323
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Decreased response to growth hormone stimulat...	ORPHA:293987
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Deep philtrum, Non-midli...	ORPHA:1297
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Neonatal respiratory distress, Optic nerve hypoplasia, Micrognathia, Cryptorch...	OMIM:620025
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly	OMIM:601357
Macrodactyly	Macrodactyly	OMIM:155500
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Abnormal dental morphology, Absent nipple, Sparse sc...	ORPHA:978
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Sparse eyeb...	ORPHA:884
Breath-Holding Spells	Cyanosis	OMIM:607578
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Finger syndactyl...	OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of the tarsal bones, Phocomeli...	OMIM:276820
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Bloom Syndrome	Syndactyly, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiectasis, Agenesi...	OMIM:210900
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Umbilical hernia, High palate, Cubitus val...	OMIM:104350
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palate	OMIM:620249
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, High palate, Short philtrum, Hypoplasi...	OMIM:188400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Hereditary Orotic Aciduria	Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria	ORPHA:30
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Respiratory failure, 3-Methylglu...	ORPHA:445038
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:133540
Trisomy 13	Optic atrophy, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meat...	ORPHA:3378
Bnar Syndrome	Short lingual frenulum, Renal agenesis, Abnormal fifth toe morphology	ORPHA:217266
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Urethral stricture, Hypospadias, Bowing of the legs, Aplasia/Hypoplasia of...	OMIM:617063
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the maxilla, Short metatarsal, Broad palm, ...	OMIM:608328
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta...	OMIM:615948
Restrictive Dermopathy 1	Ureteral duplication, Prominent superficial blood vessels, Micrognathia, Overtubulated long bones...	OMIM:275210
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Osteogenesis Imperfecta, Type Xiii	Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Micrognathia, Open bite, Deep philtrum, Short foot, Wi...	ORPHA:1974
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Broad hallux, Dental crowding, Avascular necrosis of the capital femoral epiphysis, ...	ORPHA:353281
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pro...	OMIM:200600
Kbg Syndrome	Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease, Epispadias,...	OMIM:148050
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Proximal placeme...	OMIM:261540
Lethal Congenital Contracture Syndrome 2	Respiratory failure, Hydronephrosis, Micrognathia	OMIM:607598
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth...	ORPHA:420741
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hip contracture, Death in infancy, Bilateral fetal pyelectasis, Mic...	OMIM:300868
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Treacher-Collins Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the ma...	ORPHA:861
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Hypopituitarism, Optic nerve hypoplasia, Cleft upper lip, Cryptorchidi...	OMIM:603671
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Facial palsy, Abnormal pattern of respiration, Tachypnea, Episodic...	ORPHA:31826
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Micrognathia, Abnormal optic disc morphology, Short palm, Clinodactyly of ...	ORPHA:508498
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent u...	ORPHA:51636
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res...	OMIM:613845
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Respiratory failure, Respiratory insufficiency, Equinus calcaneus	ORPHA:746
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Palmar hyperline...	OMIM:617337
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ...	ORPHA:206436
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Atrophy of the spinal cord, Epiphyseal stippling, Pulmonary hypoplasia, Talipes...	ORPHA:86822
Joubert Syndrome 37	Sparse hair, Postaxial polydactyly	OMIM:619185
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Absent eyelashes, Metaphyseal chondrod...	ORPHA:166035
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ...	ORPHA:740
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Tapered toe,...	OMIM:620369
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Respiratory insufficiency	OMIM:617892
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Bloom Syndrome	Recurrent urinary tract infections, Sparse eyelashes, Pneumonia, Bronchitis, Micrognathia, Respir...	ORPHA:125
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate...	OMIM:614230
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Cutis marmorata, Aciduria, Calcium oxalate nephrolithiasis, Abn...	ORPHA:416
Gapo Syndrome	Prominent scalp veins, Alopecia, Sparse eyelashes, Facial palsy, Micrognathia, Sparse eyebrow, Hi...	OMIM:230740
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Trismus, Deep philtrum, Widow's peak, De...	OMIM:227330
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Micrognathia, Cryptorchidism, Non-midline cl...	ORPHA:3376
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, High anterior h...	OMIM:182250
Cerebrofacioarticular Syndrome	Syndactyly, Irregular dentition, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Narrow mou...	ORPHA:314679
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Genu varum, Long toe, Absent...	OMIM:264090
Leigh Syndrome	Alopecia, Optic atrophy, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal...	ORPHA:506
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Respirato...	OMIM:616733
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Orthostatic Hypotension 1	Retrograde ejaculation, High palate, Brachydactyly	OMIM:223360
15q26 overgrowth syndrome	Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Abnormality of the kidn...	DECIPHER:81
Alg9-Cdg	Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, Bifid uvula, Microretrognathi...	ORPHA:79328
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Optic atrophy, Oligodontia, Hypodontia, Autonomic bladder dysfunction	ORPHA:447896
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Micrognathia	ORPHA:808
Prune Belly Syndrome	Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	ORPHA:79138
Gracile Bone Dysplasia	Slender long bone, Ankyloglossia, Flared metaphysis, Brachydactyly	OMIM:602361
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, High,...	ORPHA:3472
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence...	ORPHA:955
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Respiratory failure requiring assisted ventilati...	ORPHA:1675
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis...	ORPHA:1300
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Cryptorchidism, Cleft palate, Downturned corners of ...	ORPHA:457193
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Hypoplasia of penis, Alopecia, Hypospadias, Abnormal...	ORPHA:2315
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial ...	OMIM:263520
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout...	OMIM:619680
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Short lingual frenulum, Renal agenesis, Bilateral cryptorchidism, Cleft palate, Pulmona...	ORPHA:2326
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Oligodontia, Sho...	ORPHA:2044
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Micrognathia, Cleft palate, Pulmonary hypoplasia, Short finger	OMIM:312150
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Highly arched eyebrow, Ectopic kidney, Cryptorchidism, Short toe, Widow's peak...	ORPHA:1519
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Brachydactyly, Thin upper lip vermilion, Sandal gap, De...	OMIM:616268
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Sparse scalp hair, Hypospadias, Single transverse palmar c...	OMIM:223370
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnorm...	OMIM:302960
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Ectodermal dysplasia, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Ectod...	OMIM:601345
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Micrognathia, Cryptorchidism, Hypoplastic frontal sinuses, Small hand, ...	OMIM:300712
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Microgn...	ORPHA:284160
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Micrognathia, ...	OMIM:614080
Distal Deletion 15Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Finger clinodactyly,...	ORPHA:1596
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias	ORPHA:139466
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Optic disc pallor, Death in infancy, Cyanosis, Hypospadias, Apnea...	OMIM:252010
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphalangeal hal...	OMIM:601707
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Mic...	OMIM:619297
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Ctcf-Related Neurodevelopmental Disorder	Broad hallux phalanx, Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Abno...	ORPHA:363611
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalang...	ORPHA:1647
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury	ORPHA:330021
Incontinentia Pigmenti	Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Erythema, Optic atrophy...	OMIM:308300
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas...	ORPHA:233
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Micrognathia, Proximal upper li...	ORPHA:280365
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Respiratory insufficiency	ORPHA:93941
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Pulm...	OMIM:620306
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf...	ORPHA:508542
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Synophrys, Postaxial polydactyly	OMIM:615824
Cranioectodermal Dysplasia 2	Micrognathia, Renal cyst, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Mi...	OMIM:613610
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel...	OMIM:187300
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Narrow mouth, Thick lower lip vermilion, Thick upper lip vermilion, Brachydactyly	OMIM:608624
Wrinkly Skin Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Cariou...	ORPHA:2834
Distal Deletion 9P	High, narrow palate, Abnormality of the dentition, Cleft palate, Brachydactyly	ORPHA:1642
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Oliguria, Abnormal re...	ORPHA:90051
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Double Outlet Right Ventricle	Hypoparathyroidism, Cyanosis, Submucous cleft hard palate, Tachypnea, Cleft palate, Narrow mouth,...	ORPHA:3426
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb	ORPHA:139471
Cerebrooculonasal Syndrome	Encephalocele, Postaxial polydactyly, Postnatal growth retardation, Postaxial hand polydactyly, N...	OMIM:605627
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Tapered finger, Fetal pyelectasis, 2-3 toe syndactyly, ...	ORPHA:96201
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C...	ORPHA:340
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Papilledema, Stenosis of the medullary cavity of the long bones, Persi...	ORPHA:93325
Lead Poisoning	Delayed eruption of teeth, Miscarriage, Asthma, Chronic kidney disease, Abnormal respiratory syst...	ORPHA:330015
Occipital Horn Syndrome	High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the w...	ORPHA:198
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ...	OMIM:263200
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Hypoplastic cervical vertebrae, Cleft palate, Downturned cor...	OMIM:616364
Joubert Syndrome 39	Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Nijmegen Breakage Syndrome	Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Abn...	ORPHA:647
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Submucous cleft hard palate, Cleft palate, Thick vermilion border, Pulmonary hypo...	ORPHA:250999
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th ...	OMIM:618050
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic aciduria, Bile ...	OMIM:618329
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis...	OMIM:612731
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Long penis, High palate, Advanced eruption of teeth, Hypertrichosis	OMIM:262190
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cryptorchidism, Micropenis, Respiratory failure, Death in childhood	OMIM:619847
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cyst...	OMIM:231680
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Recurrent infections due to aspiration, Hypogeusia, Decreased sensitivit...	OMIM:223900
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia	OMIM:614520
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu...	OMIM:616546
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Delayed eruption of teeth	OMIM:617105
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:612069
Charge Syndrome	Abnormal tibia morphology, Vesicoureteral reflux, Clinodactyly of the 5th finger, Micropenis, Fac...	ORPHA:138
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Micrognathia, Deep philtrum, High palate, Polydactyly	ORPHA:314655
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryp...	OMIM:603467
Constricting Bands, Congenital	Encephalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyl...	OMIM:217100
Peutz-Jeghers Syndrome	Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac...	ORPHA:3310
Degcags Syndrome	Micrognathia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of ...	OMIM:619488
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Congenital hip dislocation, Renal agenesis, Cyanos...	OMIM:306955
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Carious teeth, Bilateral cryptorchidism, Eclabion, Tiger tail banding,...	OMIM:616395
Ayme-Gripp Syndrome	Mandibular prognathia, Thin upper lip vermilion, Tapered finger, Abnormality of the dentition, Na...	OMIM:601088
Microphthalmia, Syndromic 9	Renal malrotation, Micrognathia, Agenesis of pulmonary vessels, Cryptorchidism, Renal hypoplasia,...	OMIM:601186
Multiple Pterygium Syndrome, Lethal Type	Cleft palate, Pulmonary hypoplasia, Short finger, Micrognathia	OMIM:253290
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Meningocele, Cleft palate, Shor...	OMIM:614424
Combined Oxidative Phosphorylation Deficiency 25	Smooth philtrum, Syndactyly, Aspiration pneumonia, Long philtrum	OMIM:616430
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Motor neuron atrophy, Spinocerebellar tract degeneration, Abnormal neuron morphology	ORPHA:412066
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Cutis marmorata, Telangiectasia ...	ORPHA:1556
Neurocardiofaciodigital Syndrome	Syndactyly, Optic disc pallor, Sparse eyebrow, Thin vermilion border, High palate, Polydactyly, S...	OMIM:619869
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure...	ORPHA:93929
Pachyonychia Congenita 2	Natal tooth, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmoplantar hyperke...	OMIM:167210
Alg8-Cdg	Macroglossia, Brachydactyly, Talipes equinovarus, Camptodactyly	ORPHA:79325
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Optic atrophy, Cleft palate, Renal cyst, Polycystic ovaries, Cough, Pulmonar...	ORPHA:137675
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Short long bone, Widely spa...	OMIM:619479
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Synophrys, Clubbing, T...	ORPHA:96123
Methylcobalamin Deficiency Type Cble	Hemolytic-uremic syndrome, Syndactyly, Clinodactyly, Glomerulopathy	ORPHA:2169
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Recurrent urinary tract infections, Renal insufficiency, Spontaneous pneumothora...	ORPHA:731
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Thin upper lip vermilion, Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Pu...	ORPHA:140952
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Bardet-Biedl Syndrome 20	Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly	OMIM:619471
Infantile Systemic Hyalinosis	Abnormal dental morphology, Camptodactyly of finger, Micromelia, Gingival overgrowth, Short palm,...	ORPHA:2176
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Hig...	ORPHA:373
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Okur-Chung Neurodevelopmental Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Micrognathia, Protruding...	OMIM:617062
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Sudden episodic apnea, Cyanosis, Oliguria, Respiratory insufficiency	ORPHA:159
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria, Abnormal renal tubule morph...	ORPHA:839
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Cryptorchidism, Humero...	OMIM:134780
Neu-Laxova Syndrome	Abnormality of the philtrum, Micromelia, Micrognathia, Spina bifida, Trismus, Abnormal eyelash mo...	ORPHA:2671
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Overlapping toe, Tapered finger, Micrognathia, Cryptorchidism, Narrow m...	OMIM:309590
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Abnormality of the kidney, Neonatal asphyxia, Abnormal lung morph...	ORPHA:141127
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Narr...	ORPHA:77301
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Limited knee flexion, Limited hip movement...	OMIM:258315
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Broad eyebrow, Hypospadias, Micrognathia, Cleft lip, Widow's peak, Cryptorchidism, Op...	OMIM:616975
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Ethylmalonic aciduria, Petechiae	OMIM:602473
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return	ORPHA:860
Ogden Syndrome	Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Short philtrum, High palate, Clin...	OMIM:300855
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Neurogenic bladder, Degeneration of anterior horn cells, ...	ORPHA:276244
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Abnormality of hair texture, Abnormality of the dentition	ORPHA:88618
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t...	ORPHA:84
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cleft palate, ...	OMIM:616038
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, High palate, Phocomelia, Sparse hair, Wrist flexion contracture, H...	OMIM:268300
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Micro...	OMIM:250790
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocat...	OMIM:606170
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection...	ORPHA:805
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology...	ORPHA:2908
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Bowing of the long bones, Odontogenic keratocysts of the jaw	ORPHA:199276
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Recurrent respiratory infections, A...	ORPHA:1764
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Tapered finger, Abnormality of canine, Short thumb, Cryptorchidism, Cho...	ORPHA:477993
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure...	ORPHA:3339
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Sinusitis, Pneumonia, Decreased response to growth hormone stimulation...	ORPHA:811
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Dyspnea, Optic atrophy, Respiratory insufficiency, Respirator...	OMIM:610505
Vacterl With Hydrocephalus	Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Hypoplasia ...	ORPHA:3412
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Tapered finger, Gingival overgrowth, Alveolar ridge overgrowth, Widely...	OMIM:301072
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Cyanosis, Orthopne...	ORPHA:980
Fraser Syndrome	Hypoplasia of penis, Dental crowding, Abnormal lung lobation, Orofacial cleft, Urethral atresia, ...	ORPHA:2052
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Stickler Syndrome	Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel mor...	ORPHA:828
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Occipital encephalocele, Tethered cord, Hypospadias, Renal agenesis,...	OMIM:192350
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,...	OMIM:300968
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Congenital Sialidosis Type 2	Polydactyly, Generalized hypertrichosis	ORPHA:93400
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Downturned corners ...	ORPHA:3455
Poliomyelitis	Myelitis, Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal motor...	ORPHA:2912
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia,...	OMIM:202650
Buerger Disease	Acrocyanosis	ORPHA:36258
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Recurrent ...	ORPHA:2308
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Supernumerary nipple, Sparse eyebrow, Unilateral brachydactyl...	ORPHA:1521
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Recurrent lower respiratory tract infections, Long eyelashes, Micrognathia	OMIM:617802
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:105400
Penile Agenesis	Urethral atresia, male, Hydroureter, Atrophy of the spinal cord, Fetal pyelectasis, Bilateral ren...	ORPHA:49
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Short...	OMIM:278250
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermili...	ORPHA:847
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ...	OMIM:608670
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Highly arched eyebrow	OMIM:248340
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Pulmonary hypoplasia, Extrapulmonary...	OMIM:200995
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda...	OMIM:617527
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Mend Syndrome	Microretrognathia, Overlapping toe, Broad hallux, Micrognathia, Long fingers, 2-3 toe syndactyly,...	OMIM:300960
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Respiratory insufficiency due...	ORPHA:600
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Microg...	OMIM:208150
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Ulnar deviation of the hand, Micrognathia, Cardiorespiratory arrest, Ta...	OMIM:616503
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Persistence of primary teeth, Abnormality of the dentition, Cranial nerve compressi...	ORPHA:2785
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Alagille Syndrome	Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia	ORPHA:52
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia, Inguinal hernia, Micrognathia	OMIM:619525
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Respiratory failure, Hydronephrosis	OMIM:620327
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Maternal Phenylketonuria	Micrognathia, Bifid distal phalanx of the thumb, High palate, Long philtrum, Clinodactyly, Brachy...	ORPHA:2209
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Dental malocclusion, Bi...	OMIM:616580
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Chops Syndrome	Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow, Brachydactyly	OMIM:616368
Sotos Syndrome	Ureteral duplication, No permanent dentition, Vesicoureteral reflux, Flushing, Hypospadias, Abnor...	ORPHA:821
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Optic disc coloboma, Renal duplication	OMIM:270420
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p...	ORPHA:1329
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Thin upper lip vermilion, Tented upper lip vermilion, Proportionate shortening...	ORPHA:280633
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Micromelia, Urethrovaginal fistula, Micrognathia, Preaxial hand polydactyly,...	ORPHA:93271
Immunodeficiency 49	Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Umbilical hernia, Hirsutism	OMIM:617237
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p...	OMIM:612474
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Hypopnea, 3-Methylglutaric aciduria, 3-Methylglutaconic acidur...	OMIM:617248
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, D...	OMIM:150230
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Respiratory failure	ORPHA:3240
Cinca Syndrome	Brachydactyly	ORPHA:1451
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Abnormality of the temporomandibular joint, Prematurely aged appearance,...	ORPHA:287
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Optic atrophy	OMIM:614298
Microphthalmia, Syndromic 1	Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Orofacial cleft, High pala...	OMIM:309800
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Hypospadias, Tracheomalacia, Micrognathia, Cleft lip, Widow's peak...	ORPHA:2745
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261537
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Alopecia, Tented upper lip vermilion, Decreas...	ORPHA:273
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion, Enlarged kidney, Pulmonary...	OMIM:261740
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Microgna...	OMIM:601803
Familial Partial Lipodystrophy, Dunnigan Type	Advanced eruption of teeth, Glomerulopathy, Generalized hirsutism, Polycystic ovaries	ORPHA:2348
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Respiratory failure, Respiratory insufficiency	OMIM:609015
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Noonan Syndrome	Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Radioulna...	ORPHA:648
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Everted lower lip vermili...	OMIM:608013
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Dental crowding, Ren...	OMIM:219000
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Cutis marmorata, Optic neuropathy, Calcium oxalate nephrolith...	OMIM:259900
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Micrognat...	ORPHA:83617
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch, Short pa...	OMIM:312870
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Pulmonary hypoplasia, Micrognathia	OMIM:601809
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,...	OMIM:619841
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ...	OMIM:107480
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Dextrocardia	Abnormal renal morphology, Abnormality of the ureter	ORPHA:1666
Renal Agenesis, Bilateral	Renal agenesis, Non-midline cleft lip, Cleft palate, Sirenomelia, Pulmonary hypoplasia	ORPHA:1848
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Ethylmalonic Encephalopathy	Acrocyanosis, Ethylmalonic aciduria, Petechiae	ORPHA:51188
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Mgat2-Cdg	Dental crowding, Kyphosis, Scoliosis, Open mouth, Brachydactyly	ORPHA:79329
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, P...	ORPHA:2211
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure, Telangiectasia of the skin, Abnormality of the lower urina...	ORPHA:679
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m...	ORPHA:306542
Eisenmenger Syndrome	Respiratory distress, Renal insufficiency, Cyanosis, Increased pulmonary vascular resistance, Whe...	ORPHA:97214
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:261552
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Renal Tubular Dysgenesis	Anuria, Respiratory insufficiency, Abnormality of the urinary system, Pulmonary hypoplasia, Renot...	OMIM:267430
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Calcaneovalgus d...	ORPHA:2152
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Thick upper lip vermilion, Optic neuropathy, Thick lower lip vermilion, Br...	OMIM:619727
Noonan Syndrome 1	Male infertility, Kyphoscoliosis, Micrognathia, Cryptorchidism, High, narrow palate, Dental maloc...	OMIM:163950
Proteus Syndrome	Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Clinodactyly ...	ORPHA:744
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard...	OMIM:301022
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Cleft lip, Pulmonary artery stenosis, Cle...	OMIM:611812
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Female hypogonadism, Single transverse palm...	OMIM:607932
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Absent eyelashes, Short upper lip, Wide mouth, ...	OMIM:200110
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Recurrent upper respiratory tract infections, Recu...	OMIM:619769
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly	ORPHA:1587
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770
Restrictive Dermopathy	Ureteral duplication, Natal tooth, Hypospadias, Camptodactyly of finger, Short nail, Micrognathia...	ORPHA:1662
Down Syndrome	Sandal gap, Single transverse palmar crease, Protruding tongue, Hypoplastic iliac wing, Broad pal...	OMIM:190685
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint contracture of the hand	OMIM:309000
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Horseshoe kidney, Aplasia/Hypoplasia ...	ORPHA:2470
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Hypospadias, Abnormal dental enamel morphology, ...	ORPHA:2556
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod...	OMIM:613406
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl...	ORPHA:991
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Cherubism	Jaw swelling, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Ol...	OMIM:118400
Stromme Syndrome	Micrognathia, Preaxial polydactyly, Cleft palate, Wide mouth, Stillbirth	OMIM:243605
Meester-Loeys Syndrome	Arachnodactyly, Gingival overgrowth, High palate, Broad distal phalanx of finger, Camptodactyly, ...	OMIM:300989
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Pyelonephritis, Respiratory failure, Acut...	ORPHA:533
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Telangiectasia of the skin, Erythema, A...	ORPHA:221
Holoprosencephaly	Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Cryptorchidism, Deep philtrum...	ORPHA:2162
Lumbar Syndrome	Renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Renal duplication	ORPHA:83628
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Giant somatosensory evoked pote...	ORPHA:268943
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ni...	ORPHA:1231
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Tachypnea, Abnormal pulmonary interstitial morphology, Respir...	OMIM:613658
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Hypermobile Ehlers-Danlos Syndrome	Apnea, Abnormality of the dentition, Elbow dislocation, Decreased nerve conduction velocity, Abno...	ORPHA:285
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D...	OMIM:618371
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Retrognathi...	OMIM:610168
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Toriello-Carey Syndrome	Micrognathia, Cryptorchidism, Cleft palate, High palate, Clinodactyly, Abnormal palate morphology...	ORPHA:3338
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thick eyebrow, Single transverse palmar crease, Synophrys, Short palm, Prominent fingertip pads, ...	ORPHA:466950
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Charge Syndrome	Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat...	OMIM:214800
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Neonatal respiratory distress, High palate, Pulmonary hypoplasia, Narrow mouth	OMIM:616866
Postinfectious Vasculitis	Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Pneumonia, Abnormality...	ORPHA:48435
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura	ORPHA:343
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Sandal gap, Optic nerve hypoplasia, Long fingers...	OMIM:620330
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Hand oligodactyly	ORPHA:45358
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Exaggerated cupid's bow, Postaxial polydactyly, Open bite, High...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Exaggerated cupid's bow, Postaxial polydactyly, Open bite, High...	ORPHA:352665
Fucosidosis	Acrocyanosis, Mucopolysacchariduria, Vascular skin abnormality, Abnormality of the dentition	ORPHA:349
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal ra...	ORPHA:444077
Hartsfield Syndrome	Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Gonadotropin deficien...	OMIM:615465
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Single transverse palmar crease, Urinary incontinence, Downturned corners of ...	OMIM:619522
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Iniencephaly	Encephalocele, Renal agenesis, Rocker bottom foot, Rhizomelia, Spina bifida, Myelomeningocele, An...	ORPHA:63259
Abetalipoproteinemia	Respiratory failure, Talipes equinovarus	ORPHA:14
Peutz-Jeghers Syndrome	Abnormality of the ureter, Bladder polyp	OMIM:175200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Epistaxis, Carious teeth, Nephrolithiasis, Stage 5 chronic kidney disease, Oral ulce...	ORPHA:79259
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, High palate, Hypospadias, Facial palsy, Highly ar...	OMIM:619325
Tetraamelia Syndrome 1	Renal agenesis, Micrognathia, Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft palate,...	OMIM:273395
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Dental crowding, Short metatarsal, Thin vermilion border, High palate, Long phi...	OMIM:617157
Generalized Arterial Calcification Of Infancy	Respiratory distress, Hyperphosphaturia, Cyanosis, Stippled calcification of the shoulder, Abnorm...	ORPHA:51608
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Neurogenic bladder	OMIM:615911
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Angiokeratoma, Gingival fibromatosis, Narrow palate...	OMIM:266270
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Stage 5 chronic kidney disease, Urete...	OMIM:208540
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Fused cervical vertebrae, ...	OMIM:157800
Dpagt1-Cdg	Arachnodactyly, Optic atrophy, Pulmonary hypoplasia, Camptodactyly, Diffuse optic disc pallor, Cl...	ORPHA:86309
Jacobsen Syndrome	Micrognathia, Cryptorchidism, Clinodactyly of the 5th finger, U-Shaped upper lip vermilion, Brach...	OMIM:147791
Meacham Syndrome	Death in infancy, Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horse...	OMIM:608978
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Diphallia	Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe...	ORPHA:227
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Double Outlet Left Ventricle	Cyanosis, Cryptorchidism, Pulmonary artery stenosis, Tachypnea, Orofacial cleft	ORPHA:3427
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin...	ORPHA:449395
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Apnea, Delayed eruption of primary teeth, Widely spaced teeth, Urinary retention...	OMIM:617799
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Brachydactyly	OMIM:100300
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Single transverse palmar crease, Downturned corners of mouth, Wide mout...	ORPHA:466943
Myasthenia Gravis	Dyspnea, Acrocyanosis, Glycosuria	ORPHA:589
Vici Syndrome	Hypopigmentation of hair, Abnormal posturing, Albinism	OMIM:242840
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Peters Plus Syndrome	Thin upper lip vermilion, Toe syndactyly, Rhizomelia, Exaggerated cupid's bow, Micromelia, Microg...	ORPHA:709
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Cowden Syndrome	Kyphosis, Furrowed tongue, Macroglossia, Palmoplantar keratoderma, High palate, Scoliosis, Brachy...	ORPHA:201
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Triangular mouth, Clinodactyly	OMIM:618460
Niemann-Pick Disease Type C	Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory...	ORPHA:646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail	OMIM:601319
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Neonatal death, Syndactyly, Broad first metatarsal, Pulmonary arte...	OMIM:619534
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Thin upper lip vermilion, Congenital hip dislocation, Overlapping toe, Postaxial p...	ORPHA:480880
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly, Orofacial cleft	ORPHA:17
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Streak ovary, Hypospadias, Micrognathia, Cryptorchidism, Chordee, Long philtrum, Micr...	OMIM:618820
Pgm3-Cdg	Chronic sinusitis, High palate, Brachydactyly	ORPHA:443811
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, Unilateral cryptorchidism, Tracheomalacia, Cryptorchidism, Partial anoma...	OMIM:618280
Moderate Hemophilia A	Cartilage destruction, Hip contracture, Gingival bleeding	ORPHA:169805
1P36 Deletion Syndrome	Camptodactyly of finger, Kyphosis, Cryptorchidism, Short foot, Hip dysplasia, Long philtrum, Hypo...	ORPHA:1606
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia	ORPHA:137605
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Cleft upper lip, Metatarsus adductus, Cryptorchidism, Submucous cleft ha...	OMIM:607872
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Elevated ...	OMIM:619351
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Open bite, Cleft palate, Downturned...	ORPHA:2729
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Cleft upper lip, Anencephaly, Cleft palate, Pulmonary hypoplasia	OMIM:313850
Williams Syndrome	Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Ope...	ORPHA:904
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Hypospadias, Abnormality of the kidney, Pulmona...	OMIM:235730
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hypoplasia...	OMIM:164210
Cardiac Valvular Dysplasia 1	Hydroureter, Cyanosis, Urethral diverticulum, Pulmonary artery atresia, Hydronephrosis	OMIM:212093
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of erupti...	ORPHA:2250
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Adult-Onset Still Disease	Cartilage destruction	ORPHA:829
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Abnormal digit morphology, Abnormality of secondary sexual hair	ORPHA:95494
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Aicardi-Goutières Syndrome	Micropenis, Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology	ORPHA:2396
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Pulmonary hypoplasia, Hydronephrosis	OMIM:271520
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Alkaptonuria	Cartilage destruction, Calcification of cartilage	ORPHA:56
Reactive Arthritis	Cartilage destruction, Recurrent aphthous stomatitis	ORPHA:29207
Johanson-Blizzard Syndrome	Downturned corners of mouth, Hypoplasia of the primary teeth, Long philtrum, Agenesis of permanen...	OMIM:243800
Myasthenic Syndrome, Congenital, 17		OMIM:616304

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 Lrp4

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 Lrp4.

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

Title	Journal	IMPC Allele	PubMed ID
Intrafusal-fiber LRP4 for muscle spindle formation and maintenance in adult and aged animals.	Nature communications (February 2023)	Lrp4^{tm1(KOMP)Vlcg}	PMC9918736
Lrp4 in hippocampal astrocytes serves as a negative feedback factor in seizures.	Cell & bioscience (November 2020)	Lrp4^{tm1(KOMP)Vlcg}	PMC7684739

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
Lrp4^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Lrp4^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lrp4^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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