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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 (2211 diseases)

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

Disease	Matching phenotypes	Source
Cenani-Lenz Syndrome	High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndac...	ORPHA:3258
Sclerosteosis	Optic atrophy, Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand,...	ORPHA:3152
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth	OMIM:212780
Sclerosteosis 2	Short finger, Cranial nerve compression, Cutaneous finger syndactyly, Facial palsy, Mandibular pr...	OMIM:614305
Postsynaptic Congenital Myasthenic Syndromes	Shoulder girdle muscle weakness, Cyanosis, Triceps weakness, Abnormality of the musculature of th...	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	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Digital Clubbing, Isolated Congenital	Clubbing	OMIM:119900
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Incisors, Rotation Of Upper Central	Rotated maxillary central incisors	OMIM:147350
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia	OMIM:614832
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Diastema, Dental Medial	Widely-spaced maxillary central incisors, Diastema	OMIM:125900
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
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
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Sugarman Brachydactyly	Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe...	OMIM:272150
Tendons, Extensor, Of Fingers, Anomalous Insertion Of	Abnormal finger morphology	OMIM:187390
Trigger Thumb	Abnormal thumb morphology	OMIM:190410
Brachydactyly, Type A3	Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact...	OMIM:112700
Taurodontism	Taurodontia	OMIM:272700
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Familial Digital Arthropathy-Brachydactyly	Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all...	ORPHA:85169
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:616270
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Cleidorhizomelic Syndrome	Rhizomelia, Bilateral single transverse palmar creases, Brachydactyly, Diaphyseal undertubulation...	ORPHA:1453
Digital Arthropathy-Brachydactyly, Familial	Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte...	OMIM:606835
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Brachydactyly, Type C	Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha...	OMIM:113100
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Thiemann Disease, Familial Form	Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis morphology	ORPHA:3314
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot	OMIM:190680
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Brachydactyly, Type A4	Short middle phalanx of the 5th finger, Aplasia of the middle phalanges of the toes, Short middle...	OMIM:112800
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Brachydactyly, Type A1, B	Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S...	OMIM:607004
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ...	ORPHA:93396
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:615887
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Dentin Dysplasia	Abnormal dental enamel morphology, Abnormal dental morphology	ORPHA:1653
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Brachydactyly, Type A1	Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h...	OMIM:112500
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly	ORPHA:1078
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Heart-Hand Syndrome, Spanish Type	Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly	OMIM:140450
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach...	ORPHA:1228
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Brachydactyly, Type A2, With Microcephaly	Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ...	OMIM:211369
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Gombo Syndrome	Brachydactyly, Radial deviation of finger, Clinodactyly	OMIM:233270
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Trichodentoosseous Syndrome	Taurodontia, Microdontia, Widely spaced teeth	OMIM:190320
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion...	ORPHA:83451
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Polydactyly, Preaxial I	Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p...	OMIM:174400
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Coloboma Of Macula With Type B Brachydactyly	Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen...	OMIM:120400
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ...	OMIM:611263
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia	OMIM:226650
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Scarring alopecia of scalp, Carious teeth	OMIM:619787
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Lumbar hyperlordosis, Over...	OMIM:618167
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Late-Onset Junctional Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79406
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly	OMIM:618498
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Brachydactyly, Short thumb	ORPHA:435804
Anonychia-Microcephaly Syndrome	Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition, Bilateral single tra...	ORPHA:1094
Multiple Synostoses Syndrome	Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Brachydactyly, Sh...	ORPHA:3237
Cooks Syndrome	Broad thumb, Dystrophic toenail, Dystrophic fingernails, Triphalangeal thumb, Brachydactyly, Spli...	ORPHA:1487
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Arthrogryposis, Distal, Type 2B2	Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Overlapping fingers, Talipes ...	OMIM:618435
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Coloboma Of Macula-Brachydactyly Type B Syndrome	Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger	ORPHA:1471
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Junctional Epidermolysis Bullosa Inversa	Atrophic scars, Carious teeth, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79405
Brachydactyly Type C	Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan...	ORPHA:93384
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Polydactyly, Postaxial, Type A9	Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:618219
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
Tetrasomy X	Abnormality of the dentition, Premature ovarian insufficiency, Radioulnar synostosis, Brachydacty...	ORPHA:9
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Metaphyseal Chondrodysplasia, Spahr Type	Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnormal metaphysis m...	ORPHA:2501
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Symphalangism, Distal	Distal symphalangism of hands, Brachydactyly, Distal foot symphalangism, Absent dorsal skin creas...	OMIM:185700
2q37 monosomy	Brachydactyly	DECIPHER:44
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Feingold Syndrome Type 2	Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb	ORPHA:391646
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal fingertip morphology, Abnormal trabecular bone morpholo...	ORPHA:79106
Oliver Syndrome	Postaxial hand polydactyly	OMIM:258200
Polydactyly, Postaxial, Type A2	Postaxial hand polydactyly	OMIM:602085
Hypertension And Brachydactyly Syndrome	Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal	OMIM:112410
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Abnormality of the hand, Brachyd...	ORPHA:1264
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly	ORPHA:1566
Tarsal-Carpal Coalition Syndrome	Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr...	OMIM:186570
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
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	Short distal phalanx of finger, Abnormality of the dentition, Mandibular prognathia, Dental maloc...	ORPHA:1858
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Stillbirth, Abn...	ORPHA:294975
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Jawad Syndrome	Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ...	OMIM:251255
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly	OMIM:176305
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth	ORPHA:3145
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Bowing of the long bones...	ORPHA:40
Acropectoral Syndrome	Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly	OMIM:605967
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Abnormal anterior horn cell morphology, Retrognathia, Micrognathia, Facial dipleg...	OMIM:611890
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synophrys	OMIM:612001
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Short 5th metacarpal, Brachydactyly, Clinodactyly of the 5th finger	OMIM:604381
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar...	ORPHA:363417
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ...	OMIM:113310
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac...	ORPHA:1277
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic hume...	OMIM:609052
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border	ORPHA:139474
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia	OMIM:618845
Preaxial Hallucal Polydactyly	Preaxial foot polydactyly, Preaxial hand polydactyly	OMIM:601759
Bullous Dystrophy, Hereditary Macular Type	Short finger, Alopecia totalis, Death in childhood, Acrocyanosis, Tapered finger	OMIM:302000
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Tarsal synostosis, Mesomelic arm s...	ORPHA:2756
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac...	OMIM:612847
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Bilateral triphalangeal thumbs, Toe syndactyly, Absent middle phalanx of 5th finger, Nail dystrop...	OMIM:124480
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	High palate, Enamel hypoplasia, Retrognathia	OMIM:617915
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Arachnodactyly, Humeroradial synostosis	OMIM:614416
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Emery-Nelson Syndrome	Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Low ...	ORPHA:1927
Intermediate Generalized Junctional Epidermolysis Bullosa	Atrophic scars, Scarring alopecia of scalp, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Aplasia/Hypoplasia of the radius, Hypoplasia of the maxilla, Microglossia, Micr...	ORPHA:1307
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Epidermolysis Bullosa, Junctional 1B, Severe	Atrophic scars, Carious teeth, Enamel hypoplasia	OMIM:226700
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro...	ORPHA:2972
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Charlie M Syndrome	Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metacarpal morphology, Tr...	ORPHA:1406
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect	ORPHA:2956
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi...	ORPHA:2370
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Microme...	ORPHA:429
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Thiemann Disease	Short phalanx of finger, Broad phalanx	OMIM:165700
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Beaking of verte...	ORPHA:750
Weyers Acrofacial Dysostosis	Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi...	OMIM:193530
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, Narrow mo...	OMIM:201170
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d...	OMIM:102510
Chromosome 20Q11-Q12 Deletion Syndrome	Finger clinodactyly, Tarsal osteovalgus, Adducted thumb, Brachydactyly, Camptodactyly	OMIM:614257
Cenani-Lenz Syndrome	High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndac...	ORPHA:3258
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Atelectasis, White hair, Camptodactyly of finger, Cutaneous finger sy...	ORPHA:896
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Postnatal...	OMIM:272440
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Pyle Disease	Platyspondyly, Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption o...	OMIM:265900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Thick eyebrow, Radioulnar synostosis, Clinodactyly of the 5th finger, Synophry...	ORPHA:3268
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Eng-Strom Syndrome	Scoliosis, Brachydactyly, Camptodactyly of finger	ORPHA:1937
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Short distal phalanx of the thumb, Short 3rd metacarpal, Short to...	ORPHA:370010
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Hypoplastic iliac wing, Lumbar hyperlordosis, Enlarged epiphyses of the phalanges ...	OMIM:609616
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors	OMIM:183300
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Flexion contracture, Carious teeth, Generalized hypoplasia of dental enamel	OMIM:203550
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, Sparse eyebrow, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 fin...	OMIM:225280
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Jalili Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta	ORPHA:1873
Trichodental Dysplasia	Hypodontia, Conical tooth, Odontodysplasia	OMIM:601453
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu...	OMIM:617927
Bardet-Biedl Syndrome 7	2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly	OMIM:615984
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Osebold-Remondini Syndrome	Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos...	OMIM:112910
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Long philtrum, Short ...	OMIM:190351
Brachydactyly-Preaxial Hallux Varus Syndrome	Broad thumb, Preaxial hand polydactyly, Radial club hand, Thick eyebrow, Brachydactyly, Short met...	ORPHA:1278
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Aplasia/Hypoplasia of the distal phalanges of the han...	OMIM:113000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Inguinal hernia, Hip contracture,...	OMIM:618363
Non-Syndromic Bicoronal Craniosynostosis	Brachydactyly, Metacarpal synostosis	ORPHA:35099
Rubinstein-Taybi Syndrome 2	Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,...	OMIM:613684
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident hand, Malar flattening,...	OMIM:146000
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Unilateral renal agenesis, Retrognathia, Preaxial polydactyly, Crossed fus...	OMIM:618142
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Short metacarpal, Brachydactyly	OMIM:113400
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Shor...	OMIM:614326
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir...	OMIM:601957
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p...	OMIM:605282
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Vesicoureteral reflux	ORPHA:2512
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ...	OMIM:617405
Atkin-Flaitz Syndrome	Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,...	ORPHA:1193
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Brachydactyly Type E	Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E br...	ORPHA:93387
Hall-Riggs Syndrome	Platyspondyly, Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Bra...	OMIM:234250
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi...	OMIM:146510
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Hypogonadism, Polydactyly, Brachydactyly, Syndactyly	OMIM:615982
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum...	ORPHA:2831
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic...	ORPHA:969
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man...	ORPHA:2325
Polydactyly, Postaxial, With Progressive Myopia	Postaxial hand polydactyly	OMIM:174310
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi...	ORPHA:245
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand	OMIM:619248
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Nail dystrophy, Brachydactyly, Sparse hair	OMIM:619692
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Cubitus valgus, Hypoplasti...	OMIM:617396
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Scarring alopecia of scalp, Enamel hypoplasia, Abn...	ORPHA:251393
20Q11.2 Microdeletion Syndrome	Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly	ORPHA:444051
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Abnormal lung lobation, Camptodac...	ORPHA:2631
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Art...	ORPHA:1856
Amelocerebrohypohidrotic Syndrome	Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b...	ORPHA:1946
Neuralgic Amyotrophy	Bifid uvula, Respiratory insufficiency, Narrow mouth, Syndactyly, Scapular winging, Acrocyanosis,...	ORPHA:2901
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Pseudopseudohypoparathyroidism	Short 5th finger, Short distal phalanx of the thumb, Short 5th metacarpal, Short 4th metacarpal, ...	ORPHA:79445
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal	OMIM:113301
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Renal hypoplasia, Retrognathia, Umbilical hernia, Oligodactyly, Median pseudocleft lip, Cutis mar...	OMIM:619758
Acromesomelic Dysplasia, Hunter-Thompson Type	Abnormal pelvic girdle bone morphology, Hip dislocation, Elbow dislocation, Short thumb, Bilatera...	ORPHA:968
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Acrootoocular Syndrome	High, narrow palate, Small hypothenar eminence, Dental malocclusion, Short toe, Sandal gap, Short...	ORPHA:2980
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot	DECIPHER:46
ERI1-related disease	Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, ...	OMIM:608739
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, A...	ORPHA:2919
Braddock Syndrome	Unilateral renal agenesis, Neonatal respiratory distress, Preaxial hand polydactyly, Micrognathia...	ORPHA:52047
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o...	ORPHA:2098
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ...	OMIM:112450
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:226670
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Hydranencephaly, Microretrognathia, Ureteral agenesis, Single transverse palmar...	OMIM:236500
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Broad hallux, Short thumb, Lumbar hyperlordosis, Brachydactyly, Mandibular prognathia	OMIM:165800
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Acromicric Dysplasia	Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio...	OMIM:102370
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Sillence Syndrome	Abnormal vertebral morphology, Platyspondyly, Chess-pawn distal phalanges, Broad thumb, Short fin...	ORPHA:3168
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Ectrodactyly-Polydactyly	Split hand, Split foot, Postaxial hand polydactyly	OMIM:225290
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo...	ORPHA:1952
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Unilateral renal agenesis, Sandal gap, Everted upper lip vermilion, Supern...	OMIM:619951
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Brachydactyly, Scoliosis, Short middle phalanx of finger, Fused cervical ...	ORPHA:1436
Pseudoachondroplasia	Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Carpal bone hypopl...	OMIM:177170
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Clinodactyly of the 3rd toe, Downturned corners of mouth, Oligodactyly, Thin upper lip vermilion,...	ORPHA:521308
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Cryptorchidism, 2-3 toe syndactyly, Talipes equinovarus, Short philtru...	ORPHA:3306
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Abnormality of the wrist, Bil...	ORPHA:2511
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal, Short digit	ORPHA:228190
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Kyphosis, Abnormal form of the vertebral bodies, Abno...	ORPHA:3098
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Humeroradial syn...	OMIM:251230
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Genu v...	OMIM:620099
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Keipert Syndrome	Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Downturned corners of mo...	OMIM:301026
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Cleft upper lip, Micrognathia, Narrow m...	OMIM:608572
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f...	ORPHA:2928
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Thyroid h...	OMIM:308050
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Respiratory insufficiency, Abnormal motor nerve conduction velocity, Tal...	OMIM:614399
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo...	ORPHA:1452
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split hand, Split foot	OMIM:183700
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
48,Xyyy Syndrome	Long philtrum, Thick lower lip vermilion, Enamel hypoplasia, Irregularly spaced teeth, High palate	ORPHA:99329
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Brachydactyly, Mandibular ...	ORPHA:1919
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Abnormal form of the vertebra...	ORPHA:3238
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ...	OMIM:113300
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Metatropic Dysplasia	Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph...	OMIM:156530
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Microdontia, Short sternum, Postaxial hand polydactyly, ...	OMIM:258850
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia	OMIM:617661
Houge-Janssens Syndrome 2	Abnormal hair whorl, Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Open m...	OMIM:616362
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar	OMIM:302350
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormality of tibial epiphyses, Arthralgia of the hip, Metaphyseal spurs, Abnormal hand metaphys...	ORPHA:166011
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Genu valgum, Prominent median palata...	OMIM:300602
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Neonatal death, Short foot, Short toe, Respiratory insufficien...	OMIM:269860
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness	OMIM:607641
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Talipes equinovarus, Joint contracture of the hand, Respi...	OMIM:611067
Trichorhinophalangeal Syndrome Type 1	Short distal phalanx of finger, Abnormality of the dentition, Cone-shaped epiphysis, Long philtru...	ORPHA:77258
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Radial bowing, Carpal bone hypoplasia...	ORPHA:93314
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Metaphyseal irregularity, Clinodactyly, Genu valgum, Delayed pubic bone ossificati...	OMIM:184250
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Optic atrophy, Hypoplasia of the maxilla, Dental malocclusion, Delayed...	OMIM:101800
Atelosteogenesis, Type Ii	Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Respirator...	OMIM:256050
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Malar flattening, Abnormal palate morphology, Down-sloping shoulders...	ORPHA:1390
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Accessory oral frenulum, Brachydactyly, Osteolysis involving bones of the upper lim...	ORPHA:88630
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact...	OMIM:610017
Perching Syndrome	Camptodactyly, High palate, Cyanosis	OMIM:617055
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Patchy distortion of ver...	OMIM:155050
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology	OMIM:217150
Aurocephalosyndactyly	4-5 toe syndactyly	OMIM:109050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Unilateral renal agenesis, High anterior hairline, Carious teeth, Dental malocclusion, Velopharyn...	ORPHA:363444
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Finger syndactyly, Abno...	ORPHA:1515
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Absent uvula, Talipes eq...	OMIM:616531
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Adducted thumb, Brachydactyly, Single transverse palmar crease	OMIM:620062
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Fl...	OMIM:251450
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Brachydactyly, Short femoral neck, Kyphosis, Delayed ossification of carpal bones	OMIM:618392
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Micromelia, Abnormal form of the vertebral bodies, Abnormal pelvis bon...	ORPHA:1426
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the zygomatic bone, Ope...	ORPHA:710
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612463
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Craniosynostosis 3	Hallux valgus, Dental malocclusion, Brachydactyly, Single transverse palmar crease	OMIM:615314
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Genu valgum, Narrow mouth, Brachydactyly, Short phalanx of finger, Coxa valga	OMIM:132450
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor...	ORPHA:93307
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc...	OMIM:300244
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Angel-Shaped Phalango-Epiphyseal Dysplasia	Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teeth, Short middle phal...	ORPHA:63442
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia	ORPHA:627
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Hyperekplexia 4	Umbilical hernia, Talipes equinovarus, Adducted thumb, Camptodactyly, High palate, Respiratory fa...	OMIM:618011
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Intellectual Disability, Birk-Barel Type	High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion...	ORPHA:166108
Seckel Syndrome 5	Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enamel hypoplasia,...	OMIM:613823
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	High anterior hairline, Sparse lateral eyebrow, Brachydactyly	OMIM:618879
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Delayed eruption of teeth, Long philtrum, Irre...	ORPHA:263463
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly	ORPHA:2091
Heart-Hand Syndrome, Slovenian Type	Brachydactyly	ORPHA:168796
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ...	OMIM:228900
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Micrognathia, Microdontia	OMIM:610706
Intellectual Disability And Myopathy Syndrome	Dental malocclusion, Thin upper lip vermilion, Achilles tendon contracture, Incisor macrodontia, ...	OMIM:619719
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Narrow palate, Decreased motor nerve conduction velocity, Retrognathia, Respirato...	OMIM:618186
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te...	OMIM:617102
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Trip...	ORPHA:2251
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Long ...	OMIM:618494
Leri Pleonosteosis	Broad thumb, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Elbow dislocat...	ORPHA:2900
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias	OMIM:600057
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Takenouchi-Kosaki Syndrome	Clinodactyly, Overlapping toe, Cryptorchidism, Hypospadias, Sparse eyebrow, Downturned corners of...	OMIM:616737
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology, Hand muscle atrophy	OMIM:183020
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Wide mouth, Gingival o...	ORPHA:137834
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Talipe...	OMIM:154400
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Renal agenesis	OMIM:601076
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Genu valgum, Limited elbow extension, Micrognathia, Narrow mouth, Irregular epiphyses ...	OMIM:614078
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Thoracic scoliosis, Arach...	OMIM:600325
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A...	OMIM:132400
Orofaciodigital Syndrome Type 2	Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hypoplasia of the capital femoral epiphysis, Respiratory failure, Hand muscle atrophy	OMIM:600561
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Long philtrum, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:502
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Delayed eruption of teeth, Camptodactyly of finger, Tooth agenesis, Anterio...	ORPHA:2863
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Retrognathia, Hyperechogenic kidn...	OMIM:614576
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:619887
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Short finger, Hyperextensibility of the finger joints, Hip contracture...	OMIM:313420
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Hypodontia, Enamel hy...	OMIM:253250
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Legg-Calvé-Perthes Disease	Abnormality of the dentition, Cartilage destruction	ORPHA:2380
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Intellectual Developmental Disorder, Autosomal Recessive 74	Narrow palate, Mandibular prognathia, Brachydactyly	OMIM:617169
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ...	OMIM:612813
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteoarthritis of the elbow, Short toe, Abnormality of the wrist, Brachytelomesoph...	ORPHA:2619
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Finger syndactyly, Unilateral cleft lip, Micrognathia, Malar fla...	ORPHA:1787
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ...	OMIM:609441
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Epiphyseal dysplasia, Fibular bowing, Micrognathia, Abnormal pelvi...	ORPHA:1427
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Thin vermilion border, Incisor macrodontia, Cleft palate	OMIM:615502
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, Lumbar hyperlordosis, Deep palmar crease, Brachydactyly...	OMIM:619451
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos...	OMIM:610913
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Muenke Syndrome	Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of toe, Radial deviation of ...	OMIM:602849
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Isolated Cleft Lip	Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxillary incisor, Macrodontia, Hyp...	ORPHA:199302
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M...	OMIM:258860
Sclerosteosis	Optic atrophy, Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand,...	ORPHA:3152
Cenani-Lenz Syndactyly Syndrome	Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, Premature loss of permanent teeth	OMIM:212780
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar...	OMIM:600081
Klippel-Feil Syndrome 1, Autosomal Dominant	Unilateral renal agenesis, Cervicomedullary schisis, Low posterior hairline, Abnormal limb bone m...	OMIM:118100
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Ramon Syndrome	Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:3019
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormality of the urinary system, Aspiration pneumonia, Abnormal peripheral action potential amp...	ORPHA:90117
Anauxetic Dysplasia 1	Platyspondyly, Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow fl...	OMIM:607095
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Widely spaced teeth	OMIM:613573
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental ...	ORPHA:2916
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Ullrich Congenital Muscular Dystrophy	Slender finger, Elbow flexion contracture, Increased laxity of fingers, Micrognathia, Abnormal pa...	ORPHA:75840
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Atelectasis, Chronic sinusitis, Bronchiectasis	OMIM:615294
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ...	ORPHA:166024
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Cryptorchidism, Respiratory failure,...	ORPHA:370968
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Micropenis, Finger joint hypermobilit...	OMIM:244200
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Or...	ORPHA:2032
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Thick eyebrow, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyl...	ORPHA:444002
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Scarring alopecia of scalp, Carious teeth, Enamel hypoplasia	OMIM:612843
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Eem Syndrome	Carious teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Widely spaced teeth, Ab...	ORPHA:1897
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Eiken Syndrome	Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,...	OMIM:600002
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes equinovarus, ...	ORPHA:536467
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Retrognathia, Elbow flexion contracture, Camptodactyly, Flexion contracture of...	OMIM:617194
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Small hand, Clinodactyly, Long philtrum, Thin upper lip vermilion, Brachydactyly, Upturned corner...	OMIM:614684
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Keratoconus Posticus Circumscriptus	Cleft upper lip, Limited elbow extension and supination, Brachydactyly, Clinodactyly of the 5th f...	OMIM:244600
Diamond-Blackfan Anemia 11	Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Bilateral cle...	OMIM:614900
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Delayed eruption of permanent teeth, Micrognathi...	OMIM:265800
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b...	OMIM:617412
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Multicystic kidney dysplasia, Renal agenesis, Elbow dislocation, Abnormal lung...	ORPHA:2538
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Nephronophthisis 15	Polydactyly	OMIM:614845
Mesomelia-Synostoses Syndrome	Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia morphology, Genu valg...	ORPHA:2496
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Fibrodysplasia Ossificans Progressiva	Alopecia, Broad femoral neck, Short 1st metacarpal, Widely spaced teeth, Respiratory insufficienc...	OMIM:135100
Sjogren-Larsson Syndrome	Flexion contracture, Enamel hypoplasia	OMIM:270200
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Abnormal renal collecti...	OMIM:113650
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca, Neonatal death	OMIM:615709
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ...	OMIM:223800
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Brachydactyly, Curly hair,...	ORPHA:79414
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Squared iliac bones,...	OMIM:112350
Anauxetic Dysplasia 3	Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Retrognathia, Short middle ph...	OMIM:618853
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Pallister-Hall-Like Syndrome	Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Occipital ...	OMIM:241800
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis	OMIM:236110
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Short toe, Abnormal form of ...	ORPHA:1327
Radio-Renal Syndrome	High, narrow palate, Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Micromelia, Downt...	ORPHA:3015
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re...	OMIM:216360
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, ...	OMIM:615993
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Uretera...	ORPHA:2437
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Hydronephrosis, Hallux va...	OMIM:620511
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Broad femoral neck, Dental malocclusion, Flared metap...	OMIM:612350
Immunodeficiency 95	Recurrent viral pneumonia, Ground-glass opacification, Recurrent viral upper respiratory tract in...	OMIM:619773
Nicolaides-Baraitser Syndrome	High, narrow palate, Clubbing of toes, Broad distal phalanx of finger, Abnormal epiphysis morphol...	ORPHA:3051
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ...	ORPHA:440354
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o...	OMIM:170390
Acrofacial Dysostosis, Catania Type	Carious teeth, Micrognathia, Malar flattening, Single transverse palmar crease, Brachydactyly, Sp...	OMIM:101805
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Hypospadias, Respiratory fa...	OMIM:619334
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection...	ORPHA:244
Limb-Mammary Syndrome	Bifid uvula, Alopecia, Absent nipple, Sparse eyebrow, Toe syndactyly, Cleft lip, Breast aplasia, ...	ORPHA:69085
Zimmermann-Laband Syndrome	Bifid uvula, Overtubulated long bones, Micrognathia, Wide mouth, Supernumerary tooth, Hypodontia,...	ORPHA:3473
Sclerosteosis 2	Short finger, Cranial nerve compression, Cutaneous finger syndactyly, Facial palsy, Mandibular pr...	OMIM:614305
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ...	OMIM:618727
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Limited elbow extension, Short phalanx of finger, Short ...	OMIM:180870
Nevus Comedonicus Syndrome	Abnormal hair morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly	ORPHA:64754
Emanuel Syndrome	Broad jaw, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Dental crowdi...	OMIM:609029
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Limb-Mammary Syndrome	Joint contracture of the hand, Hypoplastic nipples, Hallux valgus, Split hand, Camptodactyly, Spl...	OMIM:603543
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Mandibular prognathia, Clinodactyly, Retrognathia, Hypogonadism, ...	OMIM:615547
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Short met...	OMIM:190350
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Bilateral facial palsy, Proximal upper limb muscle hypertrophy, Pulmo...	ORPHA:254361
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morpho...	ORPHA:1798
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Umbilical hernia, Inguinal hernia, Taurodontia, Enamel hypoplasia, High palate	OMIM:618205
Hall-Riggs Syndrome	Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Delayed eruption of te...	ORPHA:2107
Lethal Acantholytic Erosive Disorder	Natal tooth, Congenital alopecia totalis, Absent hair, Absent eyelashes, Camptodactyly of toe, 2-...	ORPHA:158687
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Dental crowding, Retrognathia, Internally rotated shoulders, Elbow flexion contracture, Micrognat...	OMIM:617468
Braddock-Carey Syndrome 1	Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, Camptodactyly, U-Shaped u...	OMIM:619980
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Hyperoxemia, Abnormal lung morphology, Pulmonary sequestration, Respirato...	ORPHA:70589
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Polydactyly, Postaxial, Type A6	Abnormal sweat gland morphology, Postaxial foot polydactyly, Broad phalanges of the 5th finger, P...	OMIM:615226
Cardioacrofacial Dysplasia 2	Conical tooth, Postaxial foot polydactyly, Genu valgum, Tented upper lip vermilion, Hypodontia, L...	OMIM:619143
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Dental crowding, Abnor...	ORPHA:3121
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, High palate, Short foot...	OMIM:614527
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Horizontal eyebrow, Diastema, Decreased response to growth hormone sti...	OMIM:609757
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Congenital hip dislocation, Overlapping fingers, Micrognathia, Single transverse ...	OMIM:618291
Chromosome 8Q22.1 Duplication Syndrome	Broad thumb, Short thumb, Interphalangeal joint contracture of finger, Enlarged interphalangeal j...	OMIM:151200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Long philtrum, Postaxial polydactyly, Brachyd...	OMIM:617895
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Atelectasis, Ground-glass opacification, Cystic pattern on pulmona...	OMIM:610978
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Split hand, Respiratory insufficiency	OMIM:610127
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Shashi-Pena Syndrome	Highly arched eyebrow, Unilateral renal agenesis, Retrognathia, Hypertrichosis, Long eyelashes, T...	OMIM:617190
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Neonatal respiratory distress, Ureteral stenosis, Patellar ...	ORPHA:2257
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Abnormal dental enamel morphology, Hypodontia, Scarring alopecia of scalp, Oligodontia	ORPHA:59303
Roifman Syndrome	Epiphyseal dysplasia, Biconvex vertebral bodies, Short toe, Downturned corners of mouth, Long phi...	ORPHA:353298
Smith-Mccort Dysplasia 2	Platyspondyly, Mandibular prognathia, Broad femoral neck, Genu valgum, Enlarged interphalangeal j...	OMIM:615222
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Unilateral renal agenesis, Neonatal respiratory distress, Short d...	ORPHA:221139
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Delayed eruption of primary teeth, ...	ORPHA:90322
Odontochondrodysplasia	Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Micromelia, Delayed eruptio...	ORPHA:166272
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Oligodontia, Thin upper lip vermilion...	OMIM:616331
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Clinodactyly, Overlapping toe, Hypospadias, Sparse eyebrow, Downturned corners of mouth, Thin upp...	ORPHA:487796
Hereditary Motor And Sensory Neuropathy, Type Iic	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Distal upper limb amy...	OMIM:606071
Dermatoosteolysis, Kirghizian Type	Abnormality of the dentition, Abnormal diaphysis morphology, Abnormality of the wrist, Abnormal m...	ORPHA:1657
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Respiratory failure, Resp...	ORPHA:2590
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thick eyebrow, Microdontia, Thin upper lip vermilion, Everted lower li...	OMIM:619736
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Sparse lateral eyebrow, Brachydactyly, Single transverse palmar ...	OMIM:601224
Congenital Myopathy 14	Elbow flexion contracture, Hip contracture, Death in infancy, Respiratory insufficiency due to mu...	OMIM:618414
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Bilateral cleft pal...	ORPHA:56304
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition...	OMIM:157900
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Elevated circulating luteinizing hormone level, Dilatation of the renal pel...	ORPHA:95699
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal form of the vertebral bodies, Abnormal dental enamel ...	ORPHA:2180
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p...	OMIM:300106
Oculoskeletodental Syndrome	Abnormality of the dentition, Retrognathia, Microdontia, Oligodontia, Enamel hypoplasia	ORPHA:557003
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Shoulder girdle muscle weakness, Respiratory failure, Limited elbow fl...	ORPHA:266
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Small hand, Conical tooth, Overlapping fingers, Nail dystrophy, Sol...	ORPHA:952
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Sparse eyebrow, Renal hypoplasia, Dental crowding, Retrognathia, Long ...	OMIM:620654
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Beaking of vertebral bodies, Thoracolumbar ...	ORPHA:457395
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Alopecia totalis, Hypoplastic iliac wing, Micrognathia, Absent eyelashes, T...	OMIM:263650
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Small hand, Clinodactyly, Long eyelashes, Thick eyebrow, Limited elbow mov...	OMIM:300590
Temtamy Syndrome	Short toe, Thick lower lip vermilion, Micrognathia, Abnormal palate morphology, Brachydactyly, Cl...	ORPHA:1777
Multiple Synostoses Syndrome 1	Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Proximal/middle sympha...	OMIM:186500
Pde4D Haploinsufficiency Syndrome	Micrognathia, Broad phalanx, Bilateral coxa valga, Short metacarpal, Irregular vertebral endplate...	ORPHA:439822
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Thoracic platyspondyly, Beaking of vertebral bodies, Limb u...	OMIM:618961
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Natal tooth, Sandal gap, Widely spaced toes, Alopecia totalis, Neonatal dea...	OMIM:609638
Beaulieu-Boycott-Innes Syndrome	Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections	OMIM:613680
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Tarp Syndrome	Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, Pierre-Robin ...	ORPHA:2886
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Respiratory failu...	ORPHA:70587
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal irregularity, Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Lumbar ...	OMIM:250420
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Clinodactyly, Delayed eruption of teeth, Long philtrum, Kyphoscoliosis, Talipes ...	OMIM:616354
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Supernumerary tooth, Agenesis of molar, Diastema, Microdontia	OMIM:619718
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ...	ORPHA:2712
Meckel Syndrome 14	Postaxial foot polydactyly, Microretrognathia, Retrognathia, Cardiorespiratory arrest, Occipital ...	OMIM:619879
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Dental crowding, Postnatal growth retardation, Polydactyly, Clinodactyly of the 5th finger, High ...	ORPHA:231140
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Optic atrophy, Retrognathia, Abnormal lip morphology, Thin eyebrow, Abnormal...	ORPHA:2707
Weaver Syndrome	Broad thumb, Finger syndactyly, Fine hair, Camptodactyly of finger, Sandal gap, Long philtrum, Re...	ORPHA:3447
Craniofrontonasal Dysplasia	Abnormality of the dentition, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-slopin...	ORPHA:1520
Hypomelanosis Of Ito	Alopecia, Radial deviation of finger, Clinodactyly, Hand polydactyly, Syndactyly	OMIM:300337
48,Xxyy Syndrome	Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm...	ORPHA:10
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Malar flattening, Abnormal palate morpholog...	ORPHA:921
Melnick-Needles Syndrome	Short distal phalanx of finger, Tooth malposition, Craniofacial hyperostosis, Delayed eruption of...	ORPHA:2484
Emanuel Syndrome	Broad jaw, Unilateral renal agenesis, Congenital hip dislocation, Renal hypoplasia, Tooth malposi...	ORPHA:96170
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Osteoglosphonic Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Tooth agenesis, Micrognathia, Multiple unerupt...	ORPHA:2645
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced t...	OMIM:619797
Acrocephalopolydactyly	Limb undergrowth, Brachydactyly, Short long bone	ORPHA:221054
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Atelectasis	OMIM:300455
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Chromosome 15Q26-Qter Deletion Syndrome	Short middle phalanx of finger, Talipes equinovarus, Micrognathia, Brachydactyly	OMIM:612626
Myotubular Myopathy With Abnormal Genital Development	Retrognathia, Atelectasis, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, D...	OMIM:300219
Roifman Syndrome	Biconvex vertebral bodies, Short toe, Downturned corners of mouth, Long philtrum, Irregular femor...	OMIM:616651
Orofaciodigital Syndrome Xvii	High, narrow palate, Clinodactyly, Retrognathia, Partial duplication of thumb phalanx, Short midd...	OMIM:617926
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Genu valgum, Cryptorchidism, Hip contracture, Hydroureter, Submucous cleft ...	OMIM:619194
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Sandal g...	OMIM:613177
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Abnormality of the bladder	ORPHA:247604
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo...	OMIM:241530
Vacterl Association With Hydrocephalus	Renal hypoplasia, Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Respirat...	OMIM:276950
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Split hand, Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Sparse ...	ORPHA:2850
C1Q Deficiency 2	Atelectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory tra...	OMIM:620321
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small...	OMIM:268305
Char Syndrome	Toe syndactyly, Supernumerary nipple, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Per...	ORPHA:46627
Waardenburg Syndrome, Type 3	Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Prematur...	OMIM:148820
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Small proximal ti...	OMIM:154780
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Brachydactyly, Short long bone	OMIM:615633
Microphthalmia With Limb Anomalies	Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Syno...	ORPHA:1106
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Abnormality of the ureter, Micrognathia, Bilate...	ORPHA:3253
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Severe Congenital Nemaline Myopathy	Facial diplegia, Adducted thumb, Micropenis, Facial palsy, Hypospadias, Respiratory failure, Pulm...	ORPHA:171430
Jackson-Weiss Syndrome	Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first metatarsal, Hallux varus, B...	OMIM:123150
Carpenter Syndrome 1	Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valgum, Micrognath...	OMIM:201000
Codas Syndrome	Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology...	ORPHA:1458
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers	OMIM:619489
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Pallister-Hall Syndrome	Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Hy...	ORPHA:672
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Long eyelashes, Thick eyebrow, Generalized hirsutism, Abnormal hair pattern, T...	ORPHA:1514
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short nail, Short thumb, Abnormal metacarpal morphology, Short metacarpal, Duplication of the dis...	ORPHA:973
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Cranial nerve compression, Urinary bladder sphincter dysfunction, ...	ORPHA:52430
Blepharophimosis-Impaired Intellectual Development Syndrome	Dental malocclusion, Widely spaced teeth, Wide mouth, Exaggerated cupid's bow, Microdontia, Thin ...	OMIM:619293
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
Joubert Syndrome 23	Polydactyly	OMIM:616490
Meconium Aspiration Syndrome	Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Pneumothor...	ORPHA:70588
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Micrognathia, Gingival overgrowth, Median cleft palate, Mandibular aplasia, Gingiva...	ORPHA:1832
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Unilateral renal agenesis, Bifid distal...	OMIM:618419
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	High palate, Supernumerary tooth, Persistence of primary teeth	OMIM:619752
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Cutis marmorata, Mic...	ORPHA:199
Aarskog-Scott Syndrome	Abnormality of the dentition, High anterior hairline, Small hand, Hypoplasia of the maxilla, Fing...	ORPHA:915
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Genu valgum, Micrognathia, Open mouth, Cryptorchidism, H...	ORPHA:534
Craniosynostosis 2	Cleft soft palate, Triphalangeal thumb, Brachydactyly, Supernumerary tooth	OMIM:604757
Nemaline Myopathy 8	Facial palsy, Respiratory failure, Death in infancy	OMIM:615348
Laurence-Moon Syndrome	Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases	ORPHA:2377
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Sandestig-Stefanova Syndrome	Highly arched eyebrow, Clinodactyly, Retrognathia, Sparse medial eyebrow, Bilateral single transv...	OMIM:618804
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, High palate, Short dista...	OMIM:620662
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Decreased nerve conduction velocity, Talipes equinovarus, Ventilator dep...	OMIM:604320
Laron Syndrome	Short toe, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Brachydactyly, H...	ORPHA:633
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Long philtrum, Monkey wrench femor...	OMIM:618870
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth	OMIM:613312
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters	OMIM:226730
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Postaxial polydactyly, Limb unde...	OMIM:619142
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Coffin-Siris Syndrome 2	Short distal phalanx of finger, Sandal gap, Delayed eruption of teeth, Long philtrum, Thick lower...	OMIM:614607
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Broad thumb, Lumbar hyperlordosis, Brachydactyly, Mandibular prognathia, Mesomelia	ORPHA:171866
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Genu valgum, Osteolytic defects of the phalanges of the hand, Bra...	OMIM:600705
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, Long philtrum, Micrognathia, Narrow...	OMIM:618659
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Cohen Syndrome	High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill...	OMIM:216550
Temple-Baraitser Syndrome	Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Everted lower lip vermilion, H...	ORPHA:420561
Tonne-Kalscheuer Syndrome	Broad thumb, Velopharyngeal insufficiency, Fine hair, Downturned corners of mouth, Widely spaced ...	OMIM:300978
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Respiratory insufficiency, Bronchitis, Interlobular septal thickening, G...	ORPHA:60025
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Abnorma...	ORPHA:1133
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:300717
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Long philtrum, Abnormality of the wrist, Wide mouth, Abnormal thumb morphology...	ORPHA:1825
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Micrognathia, Cryptorchidism, Duplicated collecting ...	OMIM:270400
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Foot polydactyly, Postaxial hand polydactyly	ORPHA:2155
Acrofacial Dysostosis, Catania Type	Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Hy...	ORPHA:1786
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Long palm, Arachnodactyly, Abnormality...	ORPHA:2759
Bardet-Biedl Syndrome 8	Postaxial polydactyly	OMIM:615985
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Flat acetabular roof, Sparse eyebrow, Cl...	OMIM:616300
Frontonasal Dysplasia 1	Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge...	OMIM:136760
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Bifid uvula, Camptodactyly of finger, Ulnar deviation of the hand or ...	OMIM:114300
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Schneckenbecken Dysplasia	Platyspondyly, Hypoplastic scapulae, Advanced tarsal ossification, Malar flattening, Narrow verte...	OMIM:269250
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Short toe, Hyperlordosis, Brachydactyly, Secondary amenorrhea, Hypergonadotropic hypogo...	ORPHA:3085
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt...	OMIM:618761
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Overlapping toe, Micrognathia, Low posterior hairline, Talipes equinovarus,...	OMIM:213980
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory...	OMIM:610910
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly	OMIM:245800
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Abnormal eyebrow morphology, Nephrolithiasis...	ORPHA:1816
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormal epiphysis morphology, Elbow dislocation, Abnormality of nail color...	ORPHA:1824
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Interphalangeal joint contracture of finger, Respiratory ...	ORPHA:1145
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Cyanosis, Type II pneumocyte hypertrophy, Desquamat...	OMIM:263000
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Diaphyseal undertubul...	OMIM:620663
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Premature skin wrinkling, Talipes equinovarus, Adducted thumb, Hip dis...	OMIM:616603
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Vesicoureteral reflux	OMIM:606408
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Delayed eruption of teeth, Everted upper lip vermilion, Sparse bo...	ORPHA:181
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, Oligodontia, Hypodontia, Enamel hypoplasia, Thick verm...	OMIM:619184
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Achondroplasia	Thoracolumbar kyphosis, Rhizomelia, Hip joint hypermobility, Short middle phalanx of finger, Lumb...	ORPHA:15
Trisomy 9P	Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth,...	ORPHA:236
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Camptodactyly of finger, Wide mouth, Cryptorchidism, 3-Methylglutaconic aciduria, D...	ORPHA:1194
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op...	ORPHA:1507
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Trichodermodysplasia-Dental Alterations Syndrome	Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis	ORPHA:3353
Intellectual Developmental Disorder, Autosomal Dominant 59	Highly arched eyebrow, Short foot, Brachydactyly, Short palm	OMIM:618522
Postsynaptic Congenital Myasthenic Syndromes	Shoulder girdle muscle weakness, Cyanosis, Triceps weakness, Abnormality of the musculature of th...	ORPHA:98913
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Ellis Van Creveld Syndrome	Synostosis of carpal bones, Abnormal hair morphology, Abnormality of the ureter, Genu valgum, Cry...	ORPHA:289
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Renal hypoplasia, Tooth malposition, Clinodactyly, Cryptorchidism, Lim...	OMIM:616541
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Glycine Encephalopathy With Normal Serum Glycine	Hand clenching, Optic atrophy, Retrognathia, Elbow flexion contracture, Long eyelashes, Overlappi...	OMIM:617301
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Genu valgum, Thin upper lip ver...	ORPHA:1295
Stuve-Wiedemann Syndrome 1	Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing of the lon...	OMIM:601559
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Lon...	OMIM:214150
Craniometaphyseal Dysplasia, Autosomal Recessive	Optic atrophy, Mandibular prognathia, Flared metaphysis, Facial hyperostosis, Club-shaped distal ...	OMIM:218400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef...	OMIM:618874
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Epiphyseal dysplasia, Aplasia/Hypoplasia of the capital femoral epiphysis, Flared ...	OMIM:215150
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti...	ORPHA:93346
Muscular Dystrophy, Congenital, 1B	Facial palsy, Respiratory failure, Shoulder girdle muscle weakness	OMIM:604801
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co...	OMIM:619638
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Tooth agenesis, Abnormality of the wrist, Abnormal femur morphology, Micr...	ORPHA:2063
7Q11.23 Microduplication Syndrome	Cutis marmorata, Micrognathia, Short lingual frenulum, Cryptorchidism, Abnormal optic disc morpho...	ORPHA:96121
Congenital Myopathy 17	Hand clenching, Renal hypoplasia, Dental malocclusion, Clinodactyly, Long philtrum, Respiratory i...	OMIM:618975
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Long philtrum, Broad long bones, Aplasia/Hypoplasia involving the pelvis, Rhizo-meso-acromelic li...	ORPHA:163654
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Sparse pubic hair, Renal hypoplasia, Broad thumb, Finger syndactyly, F...	OMIM:181270
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, Br...	ORPHA:317
Microphthalmia With Limb Anomalies	Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,...	OMIM:206920
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Generalized hirsutism,...	ORPHA:1553
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange...	OMIM:618618
Hand-Foot-Genital Syndrome	Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ...	OMIM:140000
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Short finger, Decreased testicular size, Nail dystrophy, Cryptorch...	ORPHA:1867
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Aplasia Cutis Congenita	Erythema, Toe syndactyly, Spinal dysraphism, Finger syndactyly, Facial palsy	ORPHA:1114
Pycnodysostosis	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers...	ORPHA:763
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:264700
Cornelia De Lange Syndrome 1	Cutis marmorata, Micrognathia, Cryptorchidism, Low posterior hairline, Dislocated radial head, Hi...	OMIM:122470
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Micromelia, Micrognathia, ...	OMIM:617866
Heyn-Sproul-Jackson Syndrome	Short phalanx of finger, Short metacarpal, Broad phalanx, Broad metacarpals	OMIM:618724
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	2-3 toe syndactyly, Sparse eyebrow, 3-4 finger syndactyly	OMIM:600906
Neurofaciodigitorenal Syndrome	Abnormal oral mucosa morphology, Unilateral renal agenesis, Hypoplasia of the premaxilla, Abnorma...	ORPHA:2673
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Malar flattening, Brachydactyly, Short metatarsal, Advanced ossification o...	OMIM:614613
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Malar flattening	OMIM:614727
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Bile duct proliferati...	OMIM:208500
Qazi-Markouizos Syndrome	High, narrow palate, Hypoplasia of teeth, Open mouth, Broad philtrum	ORPHA:3010
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Toe syndactyly, Branchial fistula, Optic disc coloboma, Camptodactyly ...	ORPHA:261337
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Polysyndactyly of hallux, Preaxial foot polydactyly	OMIM:235750
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:277440
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Respiratory fail...	OMIM:613954
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Kury-Isidor Syndrome	Finger syndactyly, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Triangular mou...	OMIM:619762
Biemond Syndrome Type 2	Preaxial polydactyly	ORPHA:141333
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe ...	OMIM:151210
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Toe syndactyly, Breast hypoplasia, Clinodactyly of the 5t...	ORPHA:464306
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Non-Distal Deletion 10Q	Overlapping fingers, Bilateral single transverse palmar creases, Brachydactyly, Clinodactyly of t...	ORPHA:1581
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Robinow Syndrome, Autosomal Recessive 2	Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br...	OMIM:618529
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Neonatal death, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Marinesco-Sjögren Syndrome	Hypogonadism, Avascular necrosis of the capital femoral epiphysis, Metatarsus valgus, Coxa valga,...	ORPHA:559
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Ivory epiphyses, Hypoplastic ilia, Metaphyseal irregularity, Rhizomelia, Abnormal ...	ORPHA:85167
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Tented upper lip vermilion, Narrow palate, Respiratory failure, Tapered finger	OMIM:616505
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Micromelia, Respiratory insufficiency, Micrognathia, Narrow mouth, Malar...	OMIM:224410
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Jackson-Weiss Syndrome	Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3...	ORPHA:1540
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Death in infancy, Hydronephrosis, Optic disc pallor, Respiratory failure	OMIM:618240
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyl...	OMIM:618506
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic facial bones, Hypoplastic scapulae, Metaphyseal irregularity, Hypoplas...	OMIM:607326
W Syndrome	Upper lip pit, Broad uvula, Clinodactyly, Radial bowing, Elbow dislocation, Submucous cleft hard ...	ORPHA:2804
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Absen...	ORPHA:2890
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia...	ORPHA:85166
Rin2 Syndrome	Abnormal lip morphology, Long philtrum, Gingival overgrowth, Irregular dentition, Brachydactyly, ...	ORPHA:217335
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Short clavicles, Brachydactyly,...	OMIM:614592
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Respiratory insufficiency, B...	ORPHA:1865
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Hypoplasia of t...	ORPHA:989
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, A...	ORPHA:1005
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Micrognathia, Malar flattening, Brachydactyly, Split hand, Cleft p...	ORPHA:2145
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ...	ORPHA:3429
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne...	OMIM:609220
Coffin-Siris Syndrome 6	High, narrow palate, Clinodactyly, Retrognathia, Micrognathia, Kyphoscoliosis, Deep philtrum, Bra...	OMIM:617808
Orofaciodigital Syndrome Xix	Narrow palate, Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Carious teeth, Type A br...	OMIM:620107
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Branchial cyst, Short hallux, Abnormality of the kidney, Cleft maxil...	ORPHA:508488
Oculomaxillofacial Dysostosis	Abnormality of the dentition, Camptodactyly of finger, Micrognathia, Median cleft upper lip, Addu...	ORPHA:1794
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Metaphyseal irregularity, Rhizomelia, Metaphyseal cupping, Dental malocclusion, Fl...	OMIM:608940
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of toes, Micrognathia, Cryptorchidism, Single transverse palmar crease, Cyanosis, 2-3 to...	ORPHA:3304
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hypoplasia of the ra...	OMIM:617604
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Baller-Gerold Syndrome	Erythema, Carpal synostosis, Micrognathia, Narrow mouth, Patellar aplasia, Limited elbow movement...	OMIM:218600
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob...	ORPHA:199241
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure, Split hand	ORPHA:168486
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Metaphyseal cupping of metacarpals, Cone-shaped capital femoral epiphysis, Short f...	OMIM:300232
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scol...	ORPHA:1883
Chand Syndrome	Short fifth metatarsal, Hydroureter, Atelectasis, Agenesis of permanent teeth, Abnormal oral fren...	ORPHA:1401
Gillessen-Kaesbach-Nishimura Syndrome	Frontotemporal hypertrichosis, Retrognathia, Abnormal lung lobation, Micrognathia, Smooth philtru...	OMIM:263210
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Joubert Syndrome 18	Occipital encephalocele, Retrognathia, Trident pelvis, Bowing of the long bones, Talipes equinova...	OMIM:614815
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Long philtrum, Thick lower lip vermilion, Clinodactyly of the 5th finger, Joint contracture of th...	OMIM:614407
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth	ORPHA:90024
Schizophrenia 1	Short proximal phalanx of the 4th toe, Renal agenesis, Partially duplicated kidney, Ectopic kidne...	OMIM:181510
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleural effusion, Abnorm...	ORPHA:2902
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton...	OMIM:613091
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Micrognat...	OMIM:620073
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death, Micrognathia, Pulmonary hypoplasia	OMIM:253310
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate	OMIM:613849
Split-Hand/Foot Malformation 3	Renal hypoplasia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Nail dystrophy, Spl...	OMIM:246560
Feingold Syndrome	Deviation of the 2nd finger, Toe syndactyly, Abnormal form of the vertebral bodies, Micrognathia,...	ORPHA:1305
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Mandibular prognathia, Sandal gap, Thick lower lip vermilion, Hypogonadism, Brachydac...	OMIM:300354
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Joubert Syndrome 16	Polydactyly	OMIM:614465
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Seckel Syndrome 1	Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Microg...	OMIM:210600
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Polydac...	OMIM:311200
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Everted upper lip vermilion, Micrognathia, Gingival overgrowth, Thin upper lip vermilion, Deep ph...	OMIM:618381
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures	OMIM:126550
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Corneal scarring, Narrow mouth, Oral mucosal blisters, Enamel hypoplasia, Flexion...	OMIM:226600
49,Xxxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Renal hypoplasia/aplasia, Talipes eq...	ORPHA:96264
Crisponi/Cold-Induced Sweating Syndrome 1	Carious teeth, Radial deviation of finger, Long philtrum, Retrognathia, Elbow flexion contracture...	OMIM:272430
Progressive Osseous Heteroplasia	Brachydactyly	ORPHA:2762
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microretrogn...	ORPHA:468631
Cri-Du-Chat Syndrome	Optic atrophy, Bifid uvula, Microretrognathia, Downturned corners of mouth, Premature graying of ...	OMIM:123450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Abnormal hair morphology, Cryptorchidism, Absent eyebrow, Abnormality of the kidney, Ab...	ORPHA:2273
Thanatophoric Dysplasia, Type Ii	Platyspondyly, Hypoplastic ilia, Small abnormally formed scapulae, Micromelia, Flared metaphysis,...	OMIM:187601
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Optic atrophy, Pulmonary hypoplasia	OMIM:618174
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Generalized abnormality of ...	ORPHA:2314
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Retrognathia, Respiratory insufficiency, Beta-aminoisobutyric aciduria, High palat...	OMIM:615330
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Widow's peak, Brachydactyly	OMIM:266265
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Slender finger, Methylmalonic aciduria, Jaundice, Respiratory failure	OMIM:250940
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Encephalocele, Ta...	OMIM:619148
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Recurrent respiratory infections, Hypertrichosis, Long philtrum, Overlappi...	OMIM:618316
Farber Disease	Recurrent upper respiratory tract infections, Short toe, Atelectasis, Short finger, Respiratory i...	ORPHA:333
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys...	OMIM:210720
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Respiratory failure, Amyotrophic lateral sclerosis	OMIM:613435
48,Xxxy Syndrome	Hip dislocation, Carious teeth, Abnormal epiphysis morphology, Elbow dislocation, Recurrent respi...	ORPHA:96263
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Malar prominence, Micrognathia, Arachnodactyly, ...	ORPHA:2824
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Facial palsy, Clubbi...	OMIM:612387
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Open mouth, Everted lower lip vermilion, Lar...	ORPHA:192
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Syringomye...	ORPHA:2357
15Q24 Microdeletion Syndrome	Abnormality of the dentition, Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion,...	ORPHA:94065
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Unilateral renal agenesis, Broad hallux, Open mouth, Postaxial polydactyly, ...	ORPHA:457284
Genitopatellar Syndrome	Hypoplastic ilia, Multicystic kidney dysplasia, Delayed eruption of teeth, Fine hair, Long philtr...	ORPHA:85201
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Micrognathia, Open mouth, Single transverse palmar crease, Thin upper lip vermilion...	OMIM:613604
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ...	ORPHA:1692
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph...	OMIM:615761
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal...	OMIM:156500
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal pala...	ORPHA:93262
Achondrogenesis Type 2	Hypoplastic ilia, Cardiorespiratory arrest, Micromelia, Delayed pubic bone ossification, Delayed ...	ORPHA:93296
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han...	OMIM:615994
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e...	ORPHA:1190
Aarskog-Scott Syndrome	Short 5th finger, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finger, Cleft uppe...	OMIM:305400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Sandal gap, Long philtrum, Retrognathia, Micrognathia, Single transverse palmar ...	OMIM:617061
Microphthalmia, Lenz Type	Abnormality of the dentition, Hydroureter, Finger syndactyly, Optic disc coloboma, Camptodactyly ...	ORPHA:568
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Bilateral single transverse palmar cre...	ORPHA:3033
Monosomy 5P	Small hand, Microretrognathia, Finger syndactyly, High palate	ORPHA:281
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Thick eyebrow, Gingival overgrowth, Hirs...	ORPHA:2026
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Enamel agenesis, Velopharyngeal insufficiency, Long philtrum, Single transverse palmar crease, Su...	OMIM:614701
Tetrasomy 5P	Long philtrum, Overlapping toe, Micrognathia, Cyanosis, Talipes equinovarus, Short hallux, Long f...	ORPHA:3309
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Horner syndrome, Tongue atrophy,...	OMIM:141300
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence, Decreased nerve conduction velocity, Syndactyly	OMIM:615284
Bardet-Biedl Syndrome 19	Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly	OMIM:615996
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared metaphysis, B...	OMIM:269300
20P13 Microdeletion Syndrome	Highly arched eyebrow, Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly, Synophrys	ORPHA:313781
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Highly arched eyebrow, Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wi...	OMIM:618825
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Dysosteosclerosis	Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ...	ORPHA:1782
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Abnormal palate morphology, Deep philtrum, Brachydactyl...	ORPHA:2701
Lowry-Wood Syndrome	Shallow acetabular fossae, Squared iliac bones, Elbow flexion contracture, Irregular epiphyses, S...	OMIM:226960
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft...	OMIM:225500
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Malar flattening, Polydactyly, Triangular mouth,...	OMIM:607131
Ohdo Syndrome	Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Thin vermilion b...	OMIM:249620
Scarf Syndrome	Long philtrum, Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Zttk Syndrome	Unilateral renal agenesis, Sparse eyebrow, Optic atrophy, Small hand, Hypoplasia of the maxilla, ...	OMIM:617140
Arthrogryposis, Distal, Type 12	Dental crowding, Palmar hyperhidrosis, High palate, Hand muscle atrophy, Talipes equinovarus, Con...	OMIM:620545
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Abnormal metacarpal m...	ORPHA:251014
Meckel Syndrome, Type 3	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:607361
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Chordee, Broad phalanx, High palate,...	OMIM:166250
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Single trans...	OMIM:610253
Joubert Syndrome 33	Syndactyly	OMIM:617767
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Ectopic k...	OMIM:610832
Lowry-Maclean Syndrome	High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg...	ORPHA:2409
16P12.1P12.3 Triplication Syndrome	Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Retrognathia, Cli...	ORPHA:485405
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth, Pulmonary hypoplasia	OMIM:613124
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna...	OMIM:227270
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly	OMIM:601163
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia,...	ORPHA:2256
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth	OMIM:612462
Spondyloepimetaphyseal Dysplasia, Missouri Type	Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened...	ORPHA:93356
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Respiratory insufficiency, Stage 5 chronic kidney disea...	OMIM:602088
Dystonia 31	Abnormal posturing	OMIM:619565
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Neonatal respiratory distress, Respiratory insufficiency, Elbow flexi...	OMIM:608836
Corneodermatoosseous Syndrome	Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphology, Gingivitis, Abnormali...	ORPHA:3194
Amyotrophic Lateral Sclerosis 5, Juvenile	Urinary incontinence, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Resp...	OMIM:602099
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Adams-Oliver Syndrome 6	Foot oligodactyly, Brachydactyly, Syndactyly	OMIM:616589
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Thanatophoric Dysplasia	Abnormal ilium morphology, Micromelia, Respiratory insufficiency, Abnormal sacroiliac joint morph...	ORPHA:2655
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes equinovarus, Aplasia/Hyp...	OMIM:108720
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Open bite, Micrognathia, Anodontia, Short palm, Hip disloca...	ORPHA:3107
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Periventricular Nodular Heterotopia 7	Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2...	OMIM:617201
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Fractured rib, Hyperparathyroidism, Metaphyseal spurs, Umbilical herni...	OMIM:618188
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Delayed eruption o...	ORPHA:2616
Intermediate Nemaline Myopathy	High, narrow palate, Long philtrum, Facial diplegia, Facial palsy, Respiratory failure	ORPHA:171433
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Tooth agen...	ORPHA:570
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Malar flattening, Thick vermilion border, Thin vermilion border, Supernumerary tooth, Abnormal me...	ORPHA:86818
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Kyphoscoliosis, Hypo...	ORPHA:1598
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Death in childhood, Neonatal death, Absent eyelashe...	OMIM:308205
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Neonatal respiratory distress, Flared metaphy...	OMIM:187600
Pseudohypoparathyroidism, Type Ia	Short toe, Delayed eruption of teeth, Short finger, Hypogonadism, Enamel hypoplasia, Brachydactyl...	OMIM:103580
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Fine hair, Agenesis of pe...	ORPHA:2228
Silver-Russell Syndrome 1	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro...	OMIM:200990
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Proximal femoral epiphys...	OMIM:616202
Blepharonasofacial Malformation Syndrome	Optic atrophy, Finger syndactyly, Sparse lateral eyebrow, Long philtrum, Tooth agenesis, Cryptorc...	ORPHA:1252
Weill-Marchesani Syndrome	Brachydactyly, Short thumb	ORPHA:3449
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M...	ORPHA:50814
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Delayed eruption of teeth, Thick eyebrow, Gingival overgrowth, Gene...	ORPHA:2222
Coffin-Siris Syndrome 3	Long philtrum, Hypertrichosis, Umbilical hernia, Long eyelashes, Thick eyebrow, Wide mouth, Hirsu...	OMIM:614608
Cranioectodermal Dysplasia 4	Taurodontia, Smooth philtrum, Thin vermilion border	OMIM:614378
Congenital Fibrinogen Deficiency	Gingival bleeding, Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicular size, ...	ORPHA:335
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Genu valgum, Micrognathia, Talipes equinovarus, Cone-sha...	OMIM:309350
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Short toe, Cryptorchidism, Hydronephrosis, Renal cyst, Fl...	ORPHA:464311
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Bilateral triphalangeal thumbs, Short distal phalanx of finger, Micrognathia, Open mouth, Narrow ...	OMIM:619356
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Rothmund-Thomson Syndrome	Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Carious teeth, Short thumb, Delay...	ORPHA:2909
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Stage 5 chronic kidney disease, Cryptorchidism, Death in infancy, Neon...	OMIM:613390
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth	ORPHA:1656
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Retrognathia, Kyphoscoliosis, Cubitus valgus, Brachydactyly, Clinodactyly of t...	OMIM:620237
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Delayed eruption of teeth, Hypertrichosis, Umbilical hernia, Heparan sulfate...	OMIM:309900
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Narrow palate, Microretrognathia, Hydranencephaly, Atelectasis, Respirator...	OMIM:620371
Joubert Syndrome 27	Polydactyly	OMIM:617120
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Long philtrum, Micrognathia, Narrow mouth, Wide mouth, Hypodontia, T...	OMIM:620250
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Diastema, Micrognathia, Malar flattening, Brachydactyly	ORPHA:436245
Jansen-De Vries Syndrome	Small hand, Thin upper lip vermilion, Brachydactyly, Hyperlordosis, Short foot, Wide mouth	OMIM:617450
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Thick eyebrow, Gingival overgrowth, Exagge...	ORPHA:2025
Conotruncal Heart Malformations	Postaxial polydactyly, Broad hallux	OMIM:217095
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Lumbar hyperlordosis, Femoral bowing, Limited elbow...	OMIM:100800
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Urinary incontinence, Abnormal upper motor neuron morphology, Abnormality of the hand	OMIM:221770
Hepatic Veno-Occlusive Disease	Jaundice, Renal insufficiency, Respiratory failure	ORPHA:890
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf...	ORPHA:60032
Raine Syndrome	Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o...	OMIM:259775
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly	OMIM:616910
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Toe syndactyly, Renal agenesis, Long philtrum, Umbilical hernia, Micrognathia, ...	ORPHA:171839
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Small hand, Mandibular prognathia, Short thumb, Delayed eruption of t...	OMIM:268400
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Micromelia, Abnormal cartilage morphology	ORPHA:296
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Kyphosis, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, S...	ORPHA:420794
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Highly arched eyebrow, Sparse eyebrow, High anterior hairline, Broad thumb, San...	OMIM:600987
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Syndactyly	OMIM:602501
Gapo Syndrome	Optic atrophy, Alopecia, Sparse eyebrow, Abnormal pelvic girdle bone morphology, Delayed eruption...	ORPHA:2067
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Al-Raqad Syndrome	Thin upper lip vermilion, Sandal gap, Narrow mouth, Brachydactyly	OMIM:616459
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Finger syndactyly, Bilateral cleft palate, Distichiasis, Abnormal h...	ORPHA:1997
Malan Syndrome	Retrognathia, Cutis marmorata, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, ...	OMIM:614753
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Pneumocystosis	Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti...	ORPHA:723
Smith-Magenis Syndrome	Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, Delayed eruption of primar...	ORPHA:819
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Punctate vertebral calcifications, Epiphyseal stippling, Brachyda...	ORPHA:1914
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude	OMIM:606353
Anti-Glomerular Basement Membrane Disease	Respiratory insufficiency, Persistence of primary teeth, Renal insufficiency, Pulmonary infiltrat...	ORPHA:375
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Thick anterior alveolar ridges, Talipes e...	ORPHA:2839
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,...	ORPHA:254875
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Long philtrum, Limited elbow extension and supination, Thin upper lip vermilion, Smo...	ORPHA:401935
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipes equinovarus, H...	ORPHA:567
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Sparse lateral eyebrow, Fine hair, ...	ORPHA:217346
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Fine hair, Supernumerary nipple, Thin eyebrow, Sparse or absent eyelashes, Spa...	ORPHA:1433
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res...	ORPHA:3348
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis	OMIM:619227
Amyotrophic Lateral Sclerosis 21	Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Hand muscle weakness, Decreased n...	OMIM:606070
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Acrocraniofacial Dysostosis	Short distal phalanx of finger, Ulnar deviation of finger, Broad thumb, Short 1st metacarpal, Abn...	ORPHA:949
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micrognathia, Bilateral single transverse palmar creases, Cryptorchidism, Abnormal metacarpal mor...	ORPHA:2636
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Carpal synostosis, Talipes equinovarus, Tarsal synostosis, Short metacarpal...	OMIM:272460
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Umbilical hernia, Overlapping toe, Large placenta, Open mouth, Single transverse pa...	ORPHA:254528
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Shoulder girdle muscle weakness, Facial diplegia, Tented upper lip vermilion, Cryptorc...	ORPHA:98905
Hamamy Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Inguinal hernia, Thin upper lip vermilion, Hypo...	OMIM:611174
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ...	OMIM:619229
Cockayne Syndrome Type 1	Abnormality of the dentition, Foot joint contracture, Widely spaced primary teeth, Hypoplasia of ...	ORPHA:90321
Mucopolysaccharidosis, Type Iva	Platyspondyly, Constricted iliac wing, Mandibular prognathia, Carious teeth, Widely spaced teeth,...	OMIM:253000
Bifid Nose With Or Without Anorectal And Renal Anomalies	Unilateral renal agenesis, Renal agenesis	OMIM:608980
Temtamy Syndrome	Dental crowding, Long philtrum, Micrognathia, Talipes equinovarus, Brachydactyly, Short 2nd toe, ...	OMIM:218340
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Abnormal lung lobation, Hypoplasia o...	ORPHA:958
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidism, Talipes equ...	OMIM:612651
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Otosclerosis, Increased susceptibility ...	OMIM:166220
Cockayne Syndrome	Dry hair, Carious teeth, Cryptorchidism, Reduced subcutaneous adipose tissue, Delayed eruption of...	ORPHA:191
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Optic atrophy, Sparse eyebrow, Recurrent pneumonia, Congenital hip dislocation, Fractures of the ...	ORPHA:496641
Alg6-Cdg	Macroglossia, Shortening of all distal phalanges of the fingers, Scoliosis, Brachydactyly	ORPHA:79320
Opsismodysplasia	Broad thumb, Abnormal epiphysis morphology, Hypoplastic vertebral bodies, Brachydactyly, Hypoplas...	ORPHA:2746
Joubert Syndrome 10	Hirsutism, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly	OMIM:300804
Blepharocheilodontic Syndrome 2	Distichiasis, Cutaneous syndactyly	OMIM:617681
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap...	OMIM:307800
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Death in infancy	OMIM:225753
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Horseshoe kidney, Absent radius, Fibular aplasia,...	ORPHA:3320
Elsahy-Waters Syndrome	Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil...	OMIM:211380
Dysosteosclerosis	Short diaphyses, Optic atrophy, Broad femoral neck, Facial paralysis, Flared metaphysis, Natal to...	OMIM:224300
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Osteogenesis Imperfecta, Type Viii	Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Recurrent fractures, Tibial bowing,...	OMIM:610915
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Optic atrophy, Short 5th finger, Short distal ...	OMIM:220500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Methylmalonic aciduria, Respiratory insufficiency, Death in childh...	OMIM:245400
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Advanced ossification of carpal bones, Flat acetabular roof, S...	OMIM:615777
Mohr-Tranebjaerg Syndrome	Intrinsic hand muscle atrophy, Abnormal posturing	OMIM:304700
Orofacial Cleft 15	Palate fistula, Inguinal hernia, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral...	OMIM:616788
Oliver Syndrome	Mandibular prognathia, Postaxial foot polydactyly, Dental malocclusion, Short toe, Prominent fing...	ORPHA:2920
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Clubbing, Hypoxemia	ORPHA:747
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Fra...	ORPHA:79404
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Optic disc coloboma, Vesicoureteral reflux, Renal...	ORPHA:1475
6P22 Microdeletion Syndrome	Hydronephrosis, Abnormal palate morphology, Finger syndactyly, Clinodactyly	ORPHA:251046
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth	ORPHA:94089
Bresek Syndrome	Renal hypoplasia, Alopecia, Hypoplasia of the bladder, Decreased testicular size, Vesicoureteral ...	ORPHA:85284
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Internally rotated shoulders, Cleft soft palate, Micrognathia, Narrow mouth, Hip contra...	OMIM:619503
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Narrow mouth, Low anterior hairlin...	ORPHA:261222
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, Micrognathia, P...	OMIM:616897
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip vermilion, High palate, ...	ORPHA:438216
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormality of the dentition, Mandibular prognathia, Velopharyngeal ...	OMIM:182290
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Joint contracture of the 5th finger, Mi...	OMIM:164200
Osteopetrosis, Autosomal Recessive 2	Optic atrophy, Mandibular prognathia, Carious teeth, Facial paralysis, Mandibular osteomyelitis, ...	OMIM:259710
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Narrow vertebral inte...	OMIM:143095
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Cutis marmorata, Mic...	ORPHA:818
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Retinitis Pigmentosa 89	Postaxial polydactyly	OMIM:618955
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Trisomy 20P	Finger syndactyly, Abnormality of the ureter, Micrognathia, Cryptorchidism, Low posterior hairlin...	ORPHA:261318
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Generalized oste...	OMIM:617952
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Wide mouth, Enamel hypoplasia, Abnormality of the dentition	OMIM:615802
Geleophysic Dysplasia 3	Pneumonia, Epiphyseal dysplasia, Long philtrum, Limited elbow movement, Respiratory failure, Limb...	OMIM:617809
Neurooculorenal Syndrome	Ectopic posterior pituitary, Highly arched eyebrow, Unilateral renal agenesis, Hypoplasia of the ...	OMIM:620305
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip contracture, Bowing ...	ORPHA:800
Specific Granule Deficiency 2	Tooth malposition, Conical tooth, Sandal gap, Amelogenesis imperfecta, Brachydactyly	OMIM:617475
Blepharocheilodontic Syndrome 1	High anterior hairline, Conical tooth, Clinodactyly, Cleft upper lip, Hypodontia, Distichiasis, C...	OMIM:119580
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Pontocerebellar Hypoplasia Type 1	Optic atrophy, Respiratory failure, Degeneration of anterior horn cells	ORPHA:2254
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Facial palsy, Respiratory failure, Shoulder girdle muscle weakness	OMIM:606612
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Micrognathia, Polyd...	ORPHA:397590
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Optic atrophy, Hydroureter, Abnormal autonomic nervous system physiology	OMIM:598500
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Clubbing of toes, Broad thumb, Carious teeth, Finger syndactyly, Ab...	ORPHA:783
Leigh Syndrome, Nuclear	Optic atrophy, Respiratory failure, Respiratory insufficiency, Hypertrichosis	OMIM:256000
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Preaxial hand polydactyly, Decreased response to growth hormone st...	ORPHA:96179
Filippi Syndrome	Optic atrophy, Finger syndactyly, Supernumerary nipple, Bilateral single transverse palmar crease...	ORPHA:3255
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Joint contracture of...	OMIM:618914
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Absent thumb, Rena...	OMIM:607323
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Dental crowding, Finger syndactyly, Branchial cyst, Cryptorchidism, Single...	ORPHA:435938
Spastic Paraplegia 20, Autosomal Recessive	Clinodactyly, Kyphoscoliosis, Brachydactyly, Ulnar deviation of the hand, Camptodactyly, Short fo...	OMIM:275900
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Abnorm...	ORPHA:582
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre...	ORPHA:1788
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Natal tooth, Slender long bone, Dental malocclusion, Selectiv...	OMIM:234100
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Hypoplasia of the nasal ...	ORPHA:93357
Marden-Walker Syndrome	High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Long philtrum, Micrognathia...	OMIM:248700
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis, Atelectasis	ORPHA:922
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Mesomelic/rhizomelic limb s...	ORPHA:2347
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Respiratory failure, Death in infancy	OMIM:616277
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, Protruding tongue, Cryptorchidism, Death in childhood, Talipes equinovarus, Optic d...	OMIM:214100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Dilatation of the renal pelvis, Short 5th toe, 2-4 toe cutaneous synda...	ORPHA:268261
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Cutaneous syndactyly of toes, Cleft lip, Cleft upper lip, Cutaneous fin...	OMIM:225060
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of the urinary system, Frontal balding, Small hypothenar eminenc...	ORPHA:96092
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Kyphoscoliosis, Hypodontia, Hypogonadotropic hypogonadism, Ulnar deviation of the ...	OMIM:612079
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Supernumerary nipple, Acetabular spurs, Broad long bone diaphyses,...	OMIM:614376
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality of primary teeth,...	OMIM:150400
Choanal Atresia	Recurrent respiratory infections, Cyanosis, Chronic sinusitis, Polydactyly	ORPHA:137914
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Sandal gap, Cleft upper lip, Supernumerary nipple, Widely spaced teeth, Tented up...	OMIM:612530
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure	ORPHA:1861
Ear-Patella-Short Stature Syndrome	Elbow dislocation, Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism, Hypospadias, Epi...	ORPHA:2554
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Optic atrophy, Sandal gap, Fine hair, Micromelia, Broad hallux, Hypoplasia of the zygomatic bone,...	OMIM:614800
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormality of the dentition, Alopecia, Toe syndactyly, Finger syndactyly, Supernumerary nipple, ...	ORPHA:3224
Meckel Syndrome, Type 10	Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de...	OMIM:614175
Cohen Syndrome	Finger syndactyly, Genu valgum, Micrognathia, Open mouth, Cryptorchidism, Narrow palm, Arachnodac...	ORPHA:193
Hypophosphatasia	Abnormality of the dentition, Respiratory insufficiency, Emphysema, Bowing of the long bones, Abn...	ORPHA:436
Genitopalatocardiac Syndrome	Downturned corners of mouth, Non-midline cleft of the upper lip, Micrognathia, Brachydactyly, Pos...	ORPHA:2075
Congenital Disorder Of Glycosylation, Type Iiaa	Hydronephrosis, Unilateral renal agenesis	OMIM:620454
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Curly hair, Bilateral renal dysplasia, Sparse eyebrow, Hypopl...	ORPHA:500150
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod...	ORPHA:99931
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:616867
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Suleiman-El-Hattab Syndrome	Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm...	OMIM:618950
Tarp Syndrome	Optic atrophy, Clinodactyly, Horseshoe kidney, Micrognathia, Single transverse palmar crease, Glo...	OMIM:311900
Diamond-Blackfan Anemia 21	Coarse hair, Horizontal eyebrow, Short toe, Sandal gap, Preaxial hand polydactyly, Genu valgum, C...	OMIM:620072
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria	ORPHA:79284
Avian Influenza	Pneumonia, Acute kidney injury, Myelitis, Ground-glass opacification, Pleural effusion, Pulmonary...	ORPHA:454836
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Microretrognathia, Finger syndactyl...	ORPHA:2994
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Epiphyseal dysplasia, Thoracolumbar kyphosis, Hypoplasia of the capital femoral ep...	OMIM:617425
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Bone Marrow Failure Syndrome 3	Downturned corners of mouth, Micrognathia, Oral ulcer, Microdontia, Hernia, Hypodontia, Amelogene...	OMIM:617052
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Alopecia totalis, Sparse or absent eyelashes, Mi...	ORPHA:1234
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Femoral bowing, Increased susceptibility to fractures, Joint hypermobil...	OMIM:166200
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Oculodentodigital Dysplasia	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi...	ORPHA:2710
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Synophrys	ORPHA:261272
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Highly arched eyebrow, Short distal phalanx of finger, Clinodactyly, Delayed eruption of teeth, H...	OMIM:615866
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Abnormal upper motor neuron morphology, Carpal bone hypop...	OMIM:601162
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Renal insufficiency, Death in infancy, Lacticaciduria, Respiratory failure	OMIM:619386
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Atelectasis, Abnormality of the temporomandibular joint, Respiratory insufficiency,...	ORPHA:258
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Hirsutism, Sparse hair, Delayed early-childhood social milestone development, Synda...	OMIM:618087
Chromosome 17Q12 Duplication Syndrome	Broad thumb, Cleft soft palate, Micrognathia, Smooth philtrum, Brachydactyly	OMIM:614526
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Recurrent lower res...	ORPHA:60033
Pelger-Huet Anomaly	Abnormality of the dentition, Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Sho...	OMIM:169400
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metaca...	OMIM:601356
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, Reduced social reciprocity	ORPHA:544254
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Unilateral radial aplasia, Eruption failure, Long philtrum, Dental ...	ORPHA:476126
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Retrognathia, Micrognathia, Brachydactyly, Cleft palate	OMIM:618265
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic...	ORPHA:2237
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Abnormality of the ureter, Micrognathia...	OMIM:200980
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia	OMIM:615228
Mandibuloacral Dysplasia	Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,...	ORPHA:2457
Kbg Syndrome	Finger clinodactyly, Long philtrum, Macrodontia, Thick eyebrow, Cryptorchidism, Single transverse...	ORPHA:2332
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Constricted iliac wing, Mandibular prognathia, Carious teeth, Widely spaced teeth,...	OMIM:253010
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Slender long bone, Clinodactyly, Delayed eruption of teeth...	OMIM:612921
Verheij Syndrome	Short 5th finger, Renal hypoplasia, Renal agenesis, Clinodactyly, Branchial cyst, Long philtrum, ...	OMIM:615583
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Kleefstra Syndrome	Supernumerary nipple, Cryptorchidism, Talipes equinovarus, Everted lower lip vermilion, Hypospadi...	ORPHA:261494
Bohring-Opitz Syndrome	Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Disloc...	OMIM:605039
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Neonatal death, Lacticaciduria, Elevated urinary 4-hydroxybutyric ...	OMIM:619003
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Renal agenesis, Renal dysplasia	ORPHA:2578
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Micrognathia, Absent radius, Micropeni...	OMIM:614083
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Large placenta, Mic...	ORPHA:96334
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal s...	ORPHA:1860
Meckel Syndrome, Type 8	Occipital encephalocele, Cleft upper lip, Encephalocele, Polydactyly, Talipes equinovarus, Cleft ...	OMIM:613885
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Cutis marmorata, Micrognathia, Cryptorchidism, Aplasia/H...	ORPHA:235
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal femoral epiphysis morphology, Brachydactyly, Abnormal form of the vertebr...	ORPHA:3218
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod...	OMIM:619721
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Neonatal death, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius,...	OMIM:314390
Focal Dermal Hypoplasia	Erythema, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Open bite, Renal hypop...	ORPHA:2092
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Pulmonary hypoplasia	OMIM:615721
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death...	OMIM:614922
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Dystrophic toenail, Finger syndactyly, Sup...	ORPHA:1071
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Distal upper limb muscle weakness, Elbow flexion contracture, Faci...	ORPHA:70
3P25.3 Microdeletion Syndrome	High, narrow palate, Mandibular prognathia, Broad thumb, Broad hallux, Downturned corners of mout...	ORPHA:435638
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ...	ORPHA:2780
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Clinodactyly, Widely spaced teeth, Arachnodactyly, Syndactyly	OMIM:619092
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Respiratory failur...	ORPHA:36238
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Downturned corners of mouth, Long philtrum, Dorsocervical fat pad, Micrognathia, Narrow mouth, Ol...	ORPHA:391408
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino...	OMIM:605711
Neuromyelitis Optica Spectrum Disorder	Myelitis, Functional abnormality of the bladder, Respiratory failure	ORPHA:71211
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia, Overtubulated long bones, Cyanosis, Short clavicles	OMIM:619793
Focal Dermal Hypoplasia	Toe syndactyly, Supernumerary nipple, Cryptorchidism, Telangiectasia, Brittle hair, Foot polydact...	OMIM:305600
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Unilateral renal agenesis, Ectopic kidney, Abnormality of the kidney	ORPHA:3109
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Small hand, Natal tooth, Dental crowding, Long philtrum, Hydrocele testis,...	OMIM:145420
Recon Progeroid Syndrome	Dental crowding, Progeroid facial appearance, Delayed eruption of permanent teeth, Long thumb, Cu...	OMIM:620370
Familial Adenomatous Polyposis 1	Keloids, Carious teeth, Eruption failure, Multiple lipomas, Odontoma, Supernumerary tooth	OMIM:175100
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Respiratory insufficiency, Micrognathia,...	OMIM:608022
Lymphangioleiomyomatosis	Optic atrophy, Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiom...	ORPHA:538
Distal Triplication 15Q	Dilatation of the renal pelvis, Retrognathia, Horseshoe kidney, Micrognathia, Nephroblastoma, Hyd...	ORPHA:314588
Chromosome 3Pter-P25 Deletion Syndrome	Downturned corners of mouth, Long philtrum, Retrognathia, Postnatal growth retardation, Overlappi...	OMIM:613792
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:3220
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Narrow mouth, Irregular dentition, Pulmonary lymphangiectasia, Camptodactyly, Syndactyly	OMIM:616006
Meckel Syndrome, Type 2	Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An...	OMIM:603194
Apert Syndrome	Optic atrophy, Hypoplasia of the maxilla, Broad thumb, Toe syndactyly, Finger syndactyly, Microme...	ORPHA:87
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Long philtrum, Aplasia/Hypoplasia of the tongue, Micrognathia, Talipes...	ORPHA:1358
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short lingual f...	OMIM:180700
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Osteomalacia, Femoral bo...	ORPHA:289157
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Toe syndactyly, Multicystic kidney dysplasia, Finger syndactyly, Long philtrum, R...	ORPHA:73246
Kniest Dysplasia	Delayed epiphyseal ossification, Rhizomelia, Hip dislocation, Dumbbell-shaped femur, Flared metap...	OMIM:156550
Roifman-Chitayat Syndrome	Pneumonia, Optic atrophy, Cone-shaped epiphysis, Umbilical hernia, Thin lower lip vermilion, Shor...	OMIM:613328
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu...	OMIM:250220
Pitt-Hopkins Syndrome	Tooth malposition, Small hand, Failure of eruption of permanent teeth, Finger clinodactyly, Super...	ORPHA:2896
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Cleft lip, Clinodactyly, Downturned corners of mouth, Dental malocclusion, Long phil...	OMIM:616894
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Ulbright-Hodes Syndrome	Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Cryptorchidism, Talipes equ...	ORPHA:3404
Microphthalmia, Syndromic 12	Retrognathia, Micrognathia, Cryptorchidism, Neonatal death, Cleft palate, Pulmonary hypoplasia	OMIM:615524
Duplication Of The Pituitary Gland	Supernumerary tooth, Wide mouth, Retrognathia, Cleft palate	ORPHA:314621
Scedosporiosis	Pneumonia, Bronchitis, Abnormal renal morphology, Apical pulmonary opacity, Sinusitis, Pulmonary ...	ORPHA:449280
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Dentinogenesis imperfecta, Periodontitis, Short toe, Retrognathia, Delayed eruptio...	OMIM:619269
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Multicystic kidney dysplasia, Toe syndactyly, Small hand, ...	ORPHA:1001
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Short nail, Sandal gap, Fine hair, Postaxial polydactyly, 2-3 toe...	OMIM:614099
Short Syndrome	Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma...	ORPHA:3163
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Highly arched eyebrow, Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of p...	OMIM:618342
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Downturned corners of mouth, Camptodactyly of finge...	ORPHA:2215
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Bilateral talipes equinovarus, Micrognathia, Cyanotic episode	ORPHA:284417
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Horizontal eyebrow, Clinodactyly, Downturned corners of mouth, Widely spac...	ORPHA:369891
Teebi-Shaltout Syndrome	Caudal appendage, Narrow mouth, Talipes equinovarus, Sparse hair, Syndactyly, High, narrow palate...	OMIM:272950
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:794
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Renal agenesis, Abnormality of the ureter, Renal insuffic...	ORPHA:3027
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Metaphyseal irregularity, Mandibular...	OMIM:616007
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Generalized lipodystrophy, Micrognathia, Narrow mouth, Decreased adipose tissue ...	OMIM:608612
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall...	OMIM:300963
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Small hand, Natal tooth, Micrognathia, Narrow ...	ORPHA:2108
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Dry hair, Hydroureter, Urinary retention, Carious te...	ORPHA:90324
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Malar flattening,...	ORPHA:246
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp...	OMIM:608647
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Renal agenesis, Abnormal lung lobation, Micr...	ORPHA:2516
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Lower limb undergrowth, Tibial bowing, Bowing of the long bones, Abn...	ORPHA:3035
Myhre Syndrome	Clinodactyly, Hypoplastic iliac wing, Overlapping toe, Narrow mouth, Cryptorchidism, Sparse hair,...	OMIM:139210
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism, Arachnodactyly, Talipes equinovarus...	OMIM:265000
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Hand polydactyly, Widow's peak, Syndactyly	OMIM:239710
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Facial hirsutism, Thick eyebrow, Hirsutism, Cubitus valg...	ORPHA:247768
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Cleft mandible...	ORPHA:364577
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly, Delayed eruption of teeth, Small placenta, Micrognathia, Single transverse palmar c...	ORPHA:73272
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Hypoplasia of the maxilla, Bifid uvula, Abnormal epiphy...	ORPHA:2588
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Micrognathia, Microdontia	OMIM:112240
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Fine hair, Sulfocysteinuria, Decreased urinary sulfate, Death in infan...	OMIM:272300
Hennekam Syndrome	Abnormal oral mucosa morphology, Chylothorax, Finger syndactyly, Delayed eruption of teeth, Campt...	ORPHA:2136
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Hip dislocation, ...	ORPHA:90348
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Microretrognathia, Intermittent episodes of respiratory insufficiency...	ORPHA:98914
Congenital Myasthenic Syndrome	Congenital hip dislocation, Microretrognathia, Intermittent episodes of respiratory insufficiency...	ORPHA:590
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Neonatal death	OMIM:620024
Laryngeal Abductor Paralysis	Talipes equinovarus, Cyanosis	OMIM:150260
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, White forelock, Abnormal palate morphology, De...	ORPHA:2475
Polyglucosan Body Neuropathy, Adult Form	Urinary incontinence, Abnormal upper motor neuron morphology, Neurogenic bladder, Orthostatic hyp...	OMIM:263570
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clinodactyly, Long...	OMIM:614813
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Sparse eyebrow, Talipes equinovarus, Short digit, Brachydactyly, ...	OMIM:615789
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Finger syndactyly, Aganglionic megacolon, Cleft palate, Hypospadias, Sparse scalp...	ORPHA:66629
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode	OMIM:610992
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Arterial Tortuosity Syndrome	Rocker bottom foot, Cardiorespiratory arrest, Avascular necrosis of the capital femoral epiphysis...	ORPHA:3342
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Rocker bottom foot, Microretrognathia, Clinodactyly, Downturned corners of mouth, Ank...	ORPHA:488642
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Retrognathia, Proteinuria, Talipes equinovarus, Renal dysplasia, Pulmon...	OMIM:191830
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Micrognathia, Brachydactyly, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis, ...	OMIM:619123
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Aplasia of the bladder, Hor...	OMIM:612284
Hypomelia With Mullerian Duct Anomalies	Split hand, Postaxial hand polydactyly	OMIM:146160
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly, Hypertrichosis	OMIM:247410
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cutis laxa, Urinary incon...	OMIM:616482
Kabuki Syndrome 2	Short 5th finger, Highly arched eyebrow, Natal tooth, Sparse lateral eyebrow, Prominent fingertip...	OMIM:300867
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hand clenching, Bifid uvula, Dental malocclusion, Sandal gap, Broad...	OMIM:300166
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Dental crowding, Clinodactyly, Long philtrum, Kyphoscoliosis, Talipes equinovarus, Broad philtrum...	ORPHA:397709
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Deep palmar crease, Abnormal oral frenulum morphology, Oro...	ORPHA:1752
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Patellar hypoplasia, Long philtrum, Gingival overgrowth, Brachydactyly, Thin vermil...	ORPHA:464288
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome, Acrocyanosis	OMIM:123540
Sclerosteosis 1	Optic atrophy, Abnormal pelvic girdle bone morphology, Tooth malposition, Deviation of finger, De...	OMIM:269500
Barber-Say Syndrome	Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Sparse eyelashes, Talipes equinovarus...	OMIM:209885
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Non-midline cleft of the upper lip, Abnormal ti...	ORPHA:1335
Poems Syndrome	Increased circulating prolactin concentration, Hypertrichosis, Leukonychia, Metaphyseal sclerosis...	ORPHA:2905
Short Syndrome	Dental malocclusion, Radial deviation of finger, Slender long bone, Clinodactyly, Downturned corn...	OMIM:269880
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Supernumerary nipple, Mi...	OMIM:263750
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hypoplasia of teeth, Widely spaced teeth, Cleft palate, Microdontia	ORPHA:2728
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Brachydactyly, Short long bone, Postaxial hand polydactyly, Cone-shaped epiphyses of...	OMIM:615630
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Subluxation of the small joints of the hand, Dysplasia of the femoral head...	ORPHA:536471
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Zaki Syndrome	Sparse eyebrow, Toe syndactyly, Broad distal phalanx of finger, Renal agenesis, Sparse lateral ey...	OMIM:619648
Odontoonychodermal Dysplasia	Smooth tongue, Widely spaced primary teeth, Agenesis of permanent teeth, Abnormality of primary t...	OMIM:257980
Xfe Progeroid Syndrome	Corneal scarring, Absence of subcutaneous fat, Premature loss of teeth, Enamel hypoplasia	OMIM:610965
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Lumbar hyperlordosis, Cl...	ORPHA:391474
Sotos Syndrome	High, narrow palate, Narrow palate, Sparse eyebrow, Long metacarpals, High anterior hairline, Gen...	OMIM:117550
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Split hand, Phocomelia	ORPHA:3004
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Talipes equinovarus, Broad fingertip, Finger joint hypermobility...	OMIM:212720
Ring Chromosome 21 Syndrome	Small hand, Syndactyly, Clinodactyly, Narrow palm	ORPHA:1445
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis	OMIM:617219
Alg3-Cdg	Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Macroglossia, High palate, Abnormal ...	ORPHA:79321
Ane Syndrome	Alopecia, Carious teeth, Decreased response to growth hormone stimulation test, Hypodontia, Motor...	ORPHA:157954
Amyotrophic Lateral Sclerosis 16, Juvenile	Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis	OMIM:614373
Schimke Immuno-Osseous Dysplasia	Abnormal primary molar morphology, Hypodontia, Microdontia	ORPHA:1830
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly	OMIM:611560
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Scarf Syndrome	Enamel hypoplasia, Inguinal hernia, Long philtrum, Umbilical hernia	OMIM:312830
Andersen-Tawil Syndrome	Abnormality of the dentition, Renal hypoplasia, Small hand, Hypoplasia of the maxilla, Dental cro...	ORPHA:37553
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Toe syndactyly, Finger syndactyly, Cutis marmorata, Hand polydactyly, Telangiectas...	ORPHA:60040
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo...	ORPHA:178320
Distal Deletion 12Q	High, narrow palate, Microglossia, Broad hallux, Long philtrum, Elbow flexion contracture, Overla...	ORPHA:96149
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Rothmund-Thomson Syndrome Type 2	Erythema, Carious teeth, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving bones o...	ORPHA:221016
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Everted lower lip vermili...	OMIM:280000
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Hypoplasia of the ulna, H...	ORPHA:96097
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Apert Syndrome	Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta...	OMIM:101200
Camurati-Engelmann Disease	Optic atrophy, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Carious ...	ORPHA:1328
Adams-Oliver Syndrome 5	Dystrophic toenail, Brachydactyly, Syndactyly	OMIM:616028
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Male urethral meatus stenosis, Clinodactyly, Overlapping toe, Overlapping fing...	ORPHA:464738
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Postnatal growth retardation, Polydactyl...	ORPHA:531151
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter	ORPHA:1035
Mucopolysaccharidosis, Type Vi	Pneumonia, Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hypoplastic acetab...	OMIM:253200
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Amyotrophic Lateral Sclerosis 2, Juvenile	Amyotrophic lateral sclerosis, Abnormal upper motor neuron morphology, Hand muscle atrophy, Abnor...	OMIM:205100
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Open bite, Micrognathia, Brittle hair, Foot poly...	ORPHA:2750
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Flared metaphysis, Long philtrum, Micrognathia, Gingival overgrowth, Stillbirth, O...	OMIM:259720
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis, Abnormal finger morphology, S...	ORPHA:2658
Cutis Laxa-Marfanoid Syndrome	Emphysema, Arachnodactyly, Hip dislocation	ORPHA:171719
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Short philtrum, Smooth philtrum, ...	OMIM:620156
Orofaciodigital Syndrome Type 6	Highly arched eyebrow, Midline notch of upper alveolar ridge, Renal agenesis, Finger clinodactyly...	ORPHA:2754
Grange Syndrome	Brachydactyly, Finger clinodactyly, Syndactyly	OMIM:602531
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Arachnodactyly, Hip dislocation	OMIM:614100
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Malar flattening, Short fourth metatarsal, Short phalanx of fing...	OMIM:600430
Congenital Syphilis	Hyperplasia of the maxilla, Mulberry molar, Notched primary central incisor, High palate, Semilun...	ORPHA:499009
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Genu valgum, Cyanosis, Proteinuria,...	ORPHA:488627
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia	OMIM:614096
Coffin-Siris Syndrome 7	Downturned corners of mouth, Thick lower lip vermilion, Microdontia, Thin upper lip vermilion, Br...	OMIM:618027
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly	OMIM:615989
Nivelon-Nivelon-Mabille Syndrome	Micromelia, Trapezoidal vertebral body, Brachydactyly, Short phalanx of finger, Short metacarpal	OMIM:600092
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abnormality ...	ORPHA:1486
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Diastema, Furrowed tongue, Micrognathi...	OMIM:300534
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter	ORPHA:2547
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Chitayat Syndrome	Hallux valgus, Brachydactyly, Thick vermilion border	OMIM:617180
Progeria-Short Stature-Pigmented Nevi Syndrome	Short distal phalanx of finger, Bifid uvula, Dental malocclusion, Selective tooth agenesis, Micro...	ORPHA:2959
Ventriculomegaly With Defects Of The Radius And Kidney	Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis	OMIM:602200
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
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
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary infiltrates, Pulmonary edema, Abnormal blood gas level, Respiratory failure,...	ORPHA:70578
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Median cleft upper lip, Hypodontia...	OMIM:617088
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Micrognathia, Large placenta, Neonatal death, Diaphyse...	OMIM:215140
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Recurrent pneumonia, Metaphyseal irregularity, Metaphyseal cupping, Ir...	ORPHA:99646
Fryns Syndrome	Short distal phalanx of finger, Multicystic kidney dysplasia, Long philtrum, Micrognathia, Vesico...	ORPHA:2059
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Glandular hypospadia...	ORPHA:2473
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Micrognathia, Abs...	OMIM:617925
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Bilateral single transverse palmar creases, Brachydactyly, Large hands, Abnormality ...	ORPHA:1770
Thanatophoric Dysplasia Type 2	Platyspondyly, Micromelia, Brachydactyly, Abnormal metaphysis morphology, Kyphosis	ORPHA:93274
Myoclonic-Astatic Epilepsy	Frontal balding, Long philtrum, Thick lower lip vermilion, Premature skin wrinkling, Thin upper l...	ORPHA:1942
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Hypoplastic vertebral bodies, Brachydactyly, Clinodactyly of the ...	ORPHA:2163
Snakebite Envenomation	Gingival bleeding, Erythema, Acute kidney injury, Angioedema, Hypopituitarism, Ecchymosis, Respir...	ORPHA:449285
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t...	ORPHA:3103
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Atypical scarring of skin	OMIM:229200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Respiratory failure	ORPHA:70472
Rothmund-Thomson Syndrome Type 1	Carious teeth, Alopecia totalis, Patellar aplasia, Cryptorchidism, Telangiectasia, Sparse hair, S...	ORPHA:221008
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Abnormal thumb morphology, Microdontia, Duplication of thumb phalan...	OMIM:620192
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Premature Aging Syndrome, Penttinen Type	Sparse hair, Short distal phalanx of finger, Hypoplasia of the maxilla, Slender long bone, Delaye...	OMIM:601812
Silver-Russell Syndrome 3	Small hand, Retrognathia, Unilateral cryptorchidism, Penoscrotal hypospadias, Clinodactyly of the...	OMIM:616489
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Orthostatic hypotension, Nephr...	OMIM:105120
Macs Syndrome	Eclabion, Long philtrum, Recurrent aphthous stomatitis, Micrognathia, Gingival overgrowth, Irregu...	OMIM:613075
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Delayed eruption of primary teeth, Absence of Sten...	OMIM:149730
Developmental And Epileptic Encephalopathy 100	Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tented upper lip...	OMIM:619777
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Optic atrophy, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Death in ...	OMIM:220110
Gorlin Syndrome	Abnormal vertebral morphology, Palmar pits, Mandibular prognathia, Carious teeth, Vertebral wedgi...	ORPHA:377
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo...	ORPHA:404440
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Postnatal growth retardation, Micrognathia, Narrow mouth, Ta...	OMIM:180849
Robinow Syndrome	Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permanent teeth, Meso...	ORPHA:97360
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Protruding tongue, Alveolar ridge overgrowth, Drumstick terminal phala...	OMIM:612938
Kilquist Syndrome	Hypoplasia of teeth, Mandibular prognathia, Wide mouth	OMIM:619080
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philtrum, Micrognat...	ORPHA:444072
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth	ORPHA:2050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis	OMIM:619362
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hip dislocation, Macroglossia, Delayed eruption of teeth	OMIM:614450
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Low posterior hairline, Hydr...	OMIM:220210
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia...	OMIM:247200
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Renal insufficiency, Cyanosis, Death in infancy, Renal cyst, Partial anomalous p...	OMIM:617478
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Femoral bowing, Talipes equinovarus, Stillbirth, Enlarged kidney, Cystic ...	OMIM:615415
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Fibular hypoplasia, Dumbbell-shaped long bone...	ORPHA:3144
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Overlapping fingers, Femoral bowing, Micrognathia, Talipes equinova...	OMIM:617022
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Retrognathia, Long philtrum, Micrognathia, Limb undergrowth, Long fing...	OMIM:608149
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Respiratory failure, Abnormality of the kidney	ORPHA:79327
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu...	OMIM:620233
8Q22.1 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the maxilla, Abnormality of the dentition, F...	ORPHA:178303
Fryns Syndrome	Joint contracture of the hand, Cryptorchidism, Hypospadias, Renal agenesis, Prominent fingertip p...	OMIM:229850
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Facial wrinkling, Micrognathia, Frontal upswee...	ORPHA:93932
Osteogenesis Imperfecta, Type Vi	Dentinogenesis imperfecta	OMIM:613982
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Omphalocele	OMIM:243150
Craniosynostosis And Dental Anomalies	Narrow palate, Hypoplasia of the maxilla, Dental malocclusion, Broad hallux, Clinodactyly, Delaye...	OMIM:614188
Gardner Syndrome	Abnormality of the dentition, Keloids, Multiple unerupted teeth, Odontoma, Lipoma, Supernumerary ...	ORPHA:79665
Leopard Syndrome 1	Unilateral renal agenesis, Mandibular prognathia, Cryptorchidism, Aplasia of the ovary, Limited e...	OMIM:151100
3C Syndrome	High, narrow palate, Optic atrophy, Finger syndactyly, Abnormal hip bone morphology, Micrognathia...	ORPHA:7
Radio-Tartaglia Syndrome	High, narrow palate, Dental crowding, Retrognathia, Long philtrum, Micrognathia, Wide mouth, Thin...	OMIM:619312
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Long philtrum, Camptodactyly of finger, Umbilical hernia, Abnormality of the u...	ORPHA:2311
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Genu valgum, Lung adenocarc...	OMIM:618913
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Hypoxemia, Clubbing, Pleural empyema	ORPHA:2038
Severe Neurodegenerative Syndrome With Lipodystrophy	Generalized hirsutism, Respiratory failure, Reduced subcutaneous adipose tissue	ORPHA:363400
Craniolenticulosutural Dysplasia	Optic atrophy, Bifid uvula, Coarse hair, High iliac wing, Carious teeth, Delayed eruption of teet...	OMIM:607812
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Spinal dysraphism, Micromelia, Finger syndactyly, Micrognathia, Encephaloc...	ORPHA:1908
Bladder Exstrophy	Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ...	ORPHA:93930
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad distal phalanx of finger, Broad thumb, Patchy alopecia, Brachydactyly, Sparse hair	OMIM:617763
Eec Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of...	ORPHA:1896
Spastic Paralysis, Infantile-Onset Ascending	Urinary incontinence, Abnormal lower motor neuron morphology	OMIM:607225
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Reduced subcutaneous adipose tissue, Delayed erupti...	OMIM:619322
Celiac Disease, Susceptibility To, 1	Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia	OMIM:212750
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Boutonneuse Fever	Respiratory failure, Renal insufficiency, Petechiae, Abnormal skin morphology of the palm	ORPHA:83313
4H Leukodystrophy	Optic atrophy, Abnormality of the dentition, Delayed eruption of teeth, Decreased response to gro...	ORPHA:289494
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular aplasia, Microg...	OMIM:300373
Fibrochondrogenesis	Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral bodies, Camptodactyly of finger,...	ORPHA:2021
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Conical incisor, Thin vermilion border, Maxilla...	ORPHA:73223
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia	ORPHA:3032
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Respiratory insufficiency, Micrognathia, Cryptorchidism, Absent palmar c...	ORPHA:994
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Highly arched eyebrow, Camptodactyly of finger, Bilateral single transverse palmar creases, Abnor...	ORPHA:2083
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Nephrocalcinosis, Long penis, Dental crowding, Hypertrichosis, Prem...	ORPHA:769
Weill-Marchesani Syndrome 1	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Abnormal dental morpho...	OMIM:277600
Huntington Disease-Like 1	Abnormal shoulder morphology, Abnormal posturing	ORPHA:157941
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel...	OMIM:601701
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Lumbar hyperlor...	ORPHA:96148
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Optic atrophy, Dilatation of the renal pelvis, Interstitial emphysema, Overlapping fingers, Micro...	OMIM:619708
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Everted lower lip vermilio...	OMIM:615873
Incontinentia Pigmenti	Erythema, Alopecia, Deviation of finger, Dystrophic toenail, Finger syndactyly, Supernumerary nip...	ORPHA:464
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Spurred metaphyses of the upper limbs, Osteoarthritis of th...	ORPHA:93284
Adams-Oliver Syndrome	Short distal phalanx of finger, Alopecia, Finger syndactyly, Absent hand, Abnormal metacarpal mor...	ORPHA:974
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Dahlberg-Borer-Newcomer Syndrome	Generalized hirsutism, Short distal phalanx of finger, Brachydactyly	ORPHA:1563
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, High palate, Recurrent respiratory infections, Facial palsy, Pulmonary...	OMIM:255320
Immunodeficiency 54	Adrenocorticotropic hormone excess, Recurrent respiratory infections, Respiratory failure, Respir...	OMIM:609981
Blomstrand Lethal Chondrodysplasia	Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology, Natal tooth, F...	ORPHA:50945
You-Hoover-Fong Syndrome	Clinodactyly, Kyphoscoliosis, Brachydactyly, Cleft palate, Accessory oral frenulum	OMIM:616954
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Hip dislocation	OMIM:614381
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Long philtrum	OMIM:312170
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Aspiration pneumonia, Shoulder girdle muscle weaknes...	ORPHA:2020
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Absent testis, Renal hypoplasia...	ORPHA:2753
Stolerman Neurodevelopmental Syndrome	Bifid uvula, Abnormality of the dentition, Mandibular prognathia, Cryptorchidism, Hypoplastic nip...	OMIM:618505
Zygomycosis	Nephritis, Atelectasis, Pleural effusion, Parenchymal consolidation, Renal insufficiency, Pulmona...	ORPHA:73263
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Erythema, Finger syndactyly, Open bite, Ankyloglossia, Narrow mouth, Abnormal ...	ORPHA:2907
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	High, narrow palate, Dental crowding, Clinodactyly, Downturned corners of mouth, Micrognathia, Na...	ORPHA:96182
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Clinodactyly, Short femoral neck, Short thumb, Horseshoe k...	ORPHA:1708
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Absent frontal sinuses, Bronchie...	OMIM:244400
Doors Syndrome	Aspiration pneumonia, Short lingual frenulum, Open mouth, Adrenal hyperplasia, Aplasia/Hypoplasia...	ORPHA:79500
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Narrow mouth, Polydactyly, Aganglionic megacolon, Abnormal ...	ORPHA:59315
Ring Chromosome 12 Syndrome	High, narrow palate, Symphalangism of the thumb, Dystrophic toenail, Clinodactyly, Glandular hypo...	ORPHA:1439
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Genu v...	OMIM:224690
Dravet Syndrome	Cyanotic episode, Tibial torsion	ORPHA:33069
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Short toe, Clinodactyly, Broad hallux, Long philtrum, High palate, Ky...	OMIM:620494
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Crypt...	OMIM:236700
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Finger syndactyly, Long philtrum, Camptodactyly of finger, Umbilic...	ORPHA:2990
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Natal tooth, Steep acetabular roof, Micrognathia, Gingival over...	ORPHA:313855
Cryptogenic Organizing Pneumonia	Ground-glass opacification, Parenchymal consolidation, Cyanosis, Pneumothorax, Hypoxemia	ORPHA:1302
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Basal Cell Nevus Syndrome 1	Palmar pits, Mandibular prognathia, Short distal phalanx of the thumb, Vertebral wedging, Cleft u...	OMIM:109400
Spondyloenchondrodysplasia	Pneumonia, Chronic kidney disease, Hypoplastic ilia, Short distal phalanx of finger, Dental maloc...	ORPHA:1855
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micr...	OMIM:600383
Zimmermann-Laband Syndrome 1	High palate, Gingival fibromatosis, Hyperextensibility of the finger joints, Downturned corners o...	OMIM:135500
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Overlapping fingers, Micrognathia, Streak ovary, Radi...	ORPHA:798
Orofaciodigital Syndrome Type 14	Postaxial foot polydactyly, Microretrognathia, Broad hallux, Lobulated tongue, Hamartoma of tongu...	ORPHA:434179
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cry...	OMIM:256520
Vacterl/Vater Association	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Renal...	ORPHA:887
Usher Syndrome	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:886
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm...	OMIM:305100
Knobloch Syndrome 2	Micrognathia, Enamel hypoplasia	OMIM:618458
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Facial wrinkling, Micrognathia, Frontal...	OMIM:305450
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness, Nephrolithiasis	ORPHA:352447
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Bowing of the long bones, Brachydactyly, Cleft palate, Abnormally o...	ORPHA:1318
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Brachydactyly, Cleft palate	OMIM:614261
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Thick eyebrow, Open mout...	OMIM:617865
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia, Cutis marmorata, Humeroradial s...	OMIM:151050
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Respiratory failure, Abnormality of somatosens...	ORPHA:98755
Adnp Syndrome	Broad thumb, Cryptorchidism, Abnormal finger morphology, Urinary incontinence, Polydactyly, Thin ...	ORPHA:404448
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2522
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili...	ORPHA:177907
Bardet-Biedl Syndrome 1	High, narrow palate, Postaxial foot polydactyly, Dental crowding, Radial deviation of finger, Abn...	OMIM:209900
Meier-Gorlin Syndrome 7	Preaxial hand polydactyly, Breast aplasia, Thin eyebrow, Bowing of the legs, Vesicoureteral reflu...	OMIM:617063
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Foot oligodactyly, Bilateral cleft palate, Bilateral cleft lip, Short femur	OMIM:601357
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Optic atrophy, Cyanosis, Abnormality of the...	ORPHA:391428
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Trichothiodystrophy	High, narrow palate, Carious teeth, Retrognathia, Umbilical hernia, Absence of subcutaneous fat, ...	ORPHA:33364
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Nephrolit...	ORPHA:521445
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Downturned corners of mouth, Long philtrum, Microgn...	OMIM:610759
Achondrogenesis, Type Ia	Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe limb shortening, Micromelia,...	OMIM:200600
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Death in childhood	OMIM:615838
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Abnormal low...	OMIM:602433
Fraser Syndrome 3	Hypoplasia of the bladder, Bilateral renal agenesis, Short toe, Abnormal lung lobation, Ureteral ...	OMIM:617667
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal epiphysis morphology, Micromelia, Retrognathia, Tooth agenesis, Hypoplastic iliac wing, ...	ORPHA:2637
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Tooth malposition, Bifid femur, Carious teeth, Abnormal form of the vertebral ...	ORPHA:2769
High Altitude Pulmonary Edema	Pulmonary edema, Hypoxemia, Cyanosis, Pulmonary opacity	ORPHA:330012
Fontaine Progeroid Syndrome	Micrognathia, Narrow mouth, Protruding tongue, Cryptorchidism, Reduced subcutaneous adipose tissu...	OMIM:612289
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Scoliosis, Brachydactyly	OMIM:619995
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ...	OMIM:620296
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Neonatal respiratory distress, Clinodactyly, Downturned corners of mouth, Micrognath...	OMIM:217980
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Pulmonary hypoplasia, Neonatal respiratory distress, Finger syndacty...	OMIM:620025
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure, Scapular winging, Shoulder girdle muscle weakness	OMIM:603689
Alkuraya-Kucinskas Syndrome	Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Pleural effusion, Micrognathi...	OMIM:617822
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ...	ORPHA:2879
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow movement, Cry...	OMIM:134780
Orofaciodigital Syndrome V	Bifid uvula, Postaxial foot polydactyly, Sandal gap, Hamartoma of tongue, Ankyloglossia, Postaxia...	OMIM:174300
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia	ORPHA:1756
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol...	ORPHA:1323
Proboscis Lateralis	Unilateral renal agenesis, Abnormality of the maxillary sinus, Abnormal facial skeleton morpholog...	ORPHA:141099
De Barsy Syndrome	Congenital hip dislocation, Delayed eruption of teeth, Prominent veins on trunk, Progeroid facial...	ORPHA:2962
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Microretrognathia	OMIM:616294
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Long eyelashes, Cryp...	ORPHA:2008
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Atrophy of the spinal ...	ORPHA:86822
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Isolated Right Ventricular Hypoplasia	Cyanosis, Hypoxemia, Clubbing	ORPHA:439
Cockayne Syndrome A	Atypical scarring of skin, Carious teeth, Dental malocclusion, Loss of facial adipose tissue, Red...	OMIM:216400
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia, Toe syndactyly, Finger syndactyly, Downturned corners of mouth, Optic nerve apl...	ORPHA:264200
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Hypoplasia of the zygomatic bone, Abnormal dental enamel morphology, Inguinal herni...	ORPHA:1812
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Optic nerv...	OMIM:617914
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Macroglossia, Short fourth metatarsal, Widely spaced teeth, Gingi...	OMIM:618143
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Long philtrum, Cryptorchidism, Generalized hirsu...	ORPHA:254346
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse eyebrow, Natal tooth, Micrognathia, Death in childhood, Death in infancy, Sparse eyelashes...	OMIM:616901
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Long philtrum, Narrow mouth, Malar flattening, Thin upper lip vermilion, Bra...	OMIM:601353
Pseudohypoparathyroidism Type 1C	Short fifth metatarsal, Broad distal phalanx of the thumb, Pituitary resistance to thyroid hormon...	ORPHA:79444
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hypoplasia of the maxilla, Hydroureter, Dental crowding, Micrognathia, Delayed eruption...	OMIM:616367
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	High anterior hairline, Thick eyebrow, Generalized hirsutism, Brachydactyly, Clinodactyly of the ...	ORPHA:1292
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Sparse eyelashes, Metaphy...	OMIM:250410
Nicolaides-Baraitser Syndrome	Broad 2nd toe, Short lingual frenulum, Everted lower lip vermilion, Short metacarpal, High, narro...	OMIM:601358
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Notched primary central incisor, Cleft lip	OMIM:620519
Immunodeficiency 9	Recurrent aphthous stomatitis, Amelogenesis imperfecta, Stomatitis	OMIM:612782
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Carious teeth, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen ...	OMIM:604292
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Horseshoe kidney, Vesicoureteral refl...	ORPHA:93260
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Nephrocalcinosis, Broad distal phalanx of finger, Dental crowding, Delayed eruption ...	OMIM:300990
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Occipital encephalocele, Abnormality of th...	OMIM:249000
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Chylothorax, Death in childhood, Death in infancy, High palate, Ma...	OMIM:620278
Hereditary Methemoglobinemia	Cyanosis, Lip discoloration	ORPHA:621
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness	OMIM:615515
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand, Narrow palate, Short f...	OMIM:608328
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Long philtrum, Umbilical hernia, Long eyelashe...	ORPHA:1517
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Slender long bone, Thick lower lip vermilion, Emphysema, Breast hypopl...	OMIM:613804
Lujo Hemorrhagic Fever	Oliguria, Atelectasis, Renal insufficiency, Ecchymosis, Microscopic hematuria, Purpura	ORPHA:319213
Multiple Pterygium Syndrome, X-Linked	Cleft upper lip, Short finger, Micrognathia, Cleft palate, Pulmonary hypoplasia	OMIM:312150
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Natal tooth, Thick lower lip vermilion, Umbilical hernia, Vesicoure...	ORPHA:261652
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Irregular epiphyses, Delayed pubic bone ossification, 2-3 toe syndactyly, Brachydacty...	OMIM:618162
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,...	ORPHA:93259
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Pleural effusion, Pulmonary edema, Decreased urine output, Respiratory failu...	ORPHA:542323
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia...	ORPHA:96169
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph...	ORPHA:1834
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Abnormal pleura morphology, Cutis marmorata, Renal insufficiency, Pulm...	ORPHA:183
Esophageal Atresia	Abnormality of the urinary system, Cleft lip, Renal agenesis, Bronchitis, Clinodactyly, Cyanosis,...	ORPHA:1199
Larsen-Like Syndrome, Lethal Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia	OMIM:245650
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Cutis marmorata, Cryptorchidism, Aplasia/Hypoplasia of the patel...	OMIM:135900
Triosephosphate Isomerase Deficiency	Cholelithiasis, Respiratory insufficiency, Death in infancy, Death in adolescence, Jaundice, Resp...	OMIM:615512
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Dental crowding, Clinodactyly, Downturned corners of mouth, Thick lower lip vermil...	ORPHA:261323
Distal Deletion 15Q	Multicystic kidney dysplasia, Small hand, Genu valgum, Micrognathia, Cryptorchidism, Talipes equi...	ORPHA:1596
Rhyns Syndrome	Brachydactyly, Short femoral neck, Radial bowing, Short long bone	OMIM:602152
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Cardiorespiratory arrest, Scapular winging, Lactica...	ORPHA:26791
Apc-Related Attenuated Familial Adenomatous Polyposis	Lipoma, Supernumerary tooth, Odontoma	ORPHA:247806
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad thumb, Carious teeth, Natal tooth, Micrognathia, High palate, Syndactyly, Avascular necrosi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad thumb, Carious teeth, Natal tooth, Micrognathia, High palate, Syndactyly, Avascular necrosi...	ORPHA:353277
Cockayne Syndrome B	Dry hair, Square pelvis bone, Carious teeth, Abnormal hair morphology, Hypoplastic iliac wing, Cr...	OMIM:133540
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Pneumothorax, Res...	ORPHA:445038
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Carious teeth, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen ...	OMIM:129900
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Atrophic scars, Oral mucosal blisters, Scarring, Enamel hypoplasia	ORPHA:79396
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Microglossia, Postaxial polysyndactyly of foot, Preaxial hand polydacty...	OMIM:263520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Long philtrum, Micrognathia, Vesicoure...	OMIM:614080
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Coffin-Siris Syndrome	Short 5th finger, Recurrent upper respiratory tract infections, Prominent eyelashes, Clinodactyly...	ORPHA:1465
Sanjad-Sakati Syndrome	Abnormality of the dentition, Long philtrum, Abnormal dental enamel morphology, Micrognathia, Thi...	ORPHA:2323
Macrodactyly	Macrodactyly	OMIM:155500
Tetrasomy 12P	Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe...	ORPHA:884
Japanese Encephalitis	Distal upper limb muscle weakness, Decreased motor nerve conduction velocity, Elbow flexion contr...	ORPHA:79139
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Clinodactyly, Microretrognathia, Down-sloping shoulders, Scap...	OMIM:615560
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Congenital Disorder Of Glycosylation, Type Iim	Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fused teeth, Enamel hypoplasia, High...	OMIM:300896
Adult Syndrome	Abnormality of the dentition, Alopecia, Absent nipple, Toe syndactyly, Finger syndactyly, Fine ha...	ORPHA:978
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Respiratory failure	OMIM:618233
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Macro...	ORPHA:3071
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Respiratory failure	OMIM:620326
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Absent nipple, Umbilical hernia, Ureteral triplication, Hydronephrosi...	OMIM:104350
Breath-Holding Spells	Cyanosis	OMIM:607578
Congenital Myopathy 22B, Severe Fetal	Tapered toe, Shoulder flexion contracture, Slender long bone, Retrognathia, Dental crowding, Elbo...	OMIM:620369
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Upper lip pit, Renal agenesis, Preaxial hand polydactyly, Premature...	ORPHA:1297
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Clinodactyly, Branchial cyst, Ankyloglossia, Micrognathia, Aplasia of...	OMIM:620186
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Bifid uvula, Narrow palate, Natal tooth, Overlapping toe, Gingival overgrowth, Lim...	OMIM:123790
Costello Syndrome	Thick lower lip vermilion, Respiratory insufficiency, Micrognathia, Vestibular schwannoma, Renal ...	OMIM:218040
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia	OMIM:234050
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Inguinal hernia, Anodontia, Microdontia, Hypodontia, En...	OMIM:218330
Alg9-Cdg	Micrognathia, Low posterior hairline, Talipes equinovarus, Broad ischia, Thin upper lip vermilion...	ORPHA:79328
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Lipoma, S...	ORPHA:733
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Genu valgum, Micrognathia, Bowing of the long bones, Di...	ORPHA:666
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Renal steatosis, Ketonuria, Cyanosis	OMIM:261680
Codas Syndrome	Enamel hypoplasia, Delayed eruption of teeth, Omphalocele	OMIM:600373
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Absent eyelashes, Neonatal death, Hypo...	OMIM:275210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Broad thumb, Carious teeth, Broad hallux, Dental crowding, Natal ...	ORPHA:353281
Bnar Syndrome	Abnormal fifth toe morphology, Short lingual frenulum, Renal agenesis	ORPHA:217266
Multiple Osteochondromas	Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor...	ORPHA:321
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Broad hallux, Microretrognathia, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Trisomy 13	Optic atrophy, Abnormality of the ureter, Displacement of the urethral meatus, Hydronephrosis, Mu...	ORPHA:3378
Hereditary Orotic Aciduria	Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria	ORPHA:30
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Dentinogenesis imperfecta, Long philtrum, Umbilical hernia	OMIM:614856
Treacher-Collins Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Retrog...	ORPHA:861
Kbg Syndrome	Radial deviation of finger, Long philtrum, Ulnar deviation of the 2nd finger, Macrodontia, Thick ...	OMIM:148050
Pseudohypoparathyroidism Type 1A	Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Pituitary resist...	ORPHA:79443
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Micrognathia, Respiratory failure	OMIM:607598
Proteasome-Associated Autoinflammatory Syndrome 2	Brachydactyly, Clinodactyly	OMIM:618048
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Long philtrum, Open bite, Micrognathia, Down-sloping shoulders, Deep philtrum,...	ORPHA:1974
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha...	ORPHA:2911
Congenital Pulmonary Lymphangiectasia	Pleural effusion, Cyanosis	ORPHA:2414
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru...	OMIM:620568
Nail-Patella Syndrome	Elbow flexion contracture, Contracture of the distal interphalangeal joint of the fingers, Knee f...	ORPHA:2614
Peters-Plus Syndrome	Square pelvis bone, Postnatal growth retardation, Micrognathia, Short lingual frenulum, Limited e...	OMIM:261540
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti...	ORPHA:51636
Timothy Syndrome	Pneumonia, Bronchitis, Microdontia, Thin upper lip vermilion, Cutaneous syndactyly	OMIM:601005
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Overlapping toe, Micrognathia, Abnormal optic disc morphology, Broad phalanx, Hyposp...	ORPHA:508498
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental enamel morphology, Abnormal dental morphology, Micrognathia, Malar flattening, Ab...	ORPHA:85199
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dystrophy, Hypoplastic sweat glan...	OMIM:617337
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Hyperechogenic kidneys, Megalopapilla, Chronic sinusitis,...	OMIM:615636
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Downturned corners of mouth, Widely spaced teeth, Elbow flexion contracture, Micrognathia, Vesico...	OMIM:300868
Pachyonychia Congenita	Alopecia, Palmoplantar keratoderma, Natal tooth, Palmoplantar blistering, Oral leukoplakia, Nail ...	ORPHA:2309
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow...	OMIM:248370
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Absent eyelashes, Metaphyseal chondrodysplasia, Hallux valgus, Absent eyebrow, Brachyda...	ORPHA:166035
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Submucous cleft hard palate, Talipes equinovarus, Thick vermilion border, Cleft p...	ORPHA:250999
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Megacystis, Vesicoureteral reflux, Hypodontia...	ORPHA:209905
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Equinus calcaneus, Respiratory failure, Respiratory insufficiency	ORPHA:746
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Respiratory failure, Cleft palate, High palate	OMIM:620249
Amyotrophic Lateral Sclerosis	Tongue atrophy, Motor neuron atrophy, Respiratory failure, Amyotrophic lateral sclerosis	ORPHA:803
Joubert Syndrome 37	Postaxial polydactyly, Sparse hair	OMIM:619185
Chromosome 8Q21.11 Deletion Syndrome	Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow, Short philtru...	OMIM:614230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Triploidy	Finger syndactyly, Micrognathia, Narrow mouth, Wide mouth, Cryptorchidism, Meningocele, Macroglos...	ORPHA:3376
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Wide mouth, Cryptorchidism, Down-sloping shoulders, Deep phil...	OMIM:227330
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Respiratory insufficiency	OMIM:617892
Coffin-Lowry Syndrome	Cutis marmorata, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal, Hyperext...	OMIM:303600
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology	ORPHA:1334
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
Riddle Syndrome	Pneumonia, Enuresis nocturna, Recurrent pneumonia, Erythema, Neonatal asphyxia, Bronchitis, Recur...	ORPHA:420741
Gapo Syndrome	High, narrow palate, Optic atrophy, Alopecia, Sparse eyebrow, Eruption failure, Long philtrum, Th...	OMIM:230740
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Cyanosis, Syringomyelia, Spina bifida	OMIM:207950
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respiratory infections, Pul...	OMIM:618278
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Bruising susceptibility, Optic nerve co...	ORPHA:667
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Optic atrophy, Abno...	ORPHA:416
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Oral leuko...	ORPHA:1775
Craniofrontonasal Syndrome	Abnormality of the dentition, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Cleft upper li...	OMIM:304110
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Radial deviation of finger, Downturned corners of mouth,...	OMIM:176270
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Tremor-Ataxia-Central Hypomyelination Syndrome	Optic atrophy, Delayed eruption of teeth, Autonomic bladder dysfunction, Oligodontia, Hypodontia	ORPHA:447896
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respirat...	ORPHA:365
Microphthalmia, Syndromic 9	Renal hypoplasia, Agenesis of pulmonary vessels, Respiratory insufficiency, Horseshoe kidney, Alv...	OMIM:601186
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Prominent scalp veins, Micrognathia, Narrow mouth, Cryptorchidism, Red...	OMIM:264090
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Gracile Bone Dysplasia	Ankyloglossia, Slender long bone, Brachydactyly, Flared metaphysis	OMIM:602361
Seckel Syndrome	Abnormal dental enamel morphology, Micrognathia, Tooth agenesis	ORPHA:808
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Bowing of the long bones, Absent frontal si...	ORPHA:955
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Downturned corners of mouth, Micrognathia, Narrow mouth, Thin vermi...	OMIM:620029
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Renal agenesis, Bilateral cryptorchidism, Decreased testicular size,...	ORPHA:2326
Singleton-Merten Syndrome 1	Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Talip...	OMIM:182250
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Increased circulating pro...	ORPHA:293987
15q26 overgrowth syndrome	High anterior hairline, Mandibular prognathia, Duplication of renal pelvis, Renal agenesis, Campt...	DECIPHER:81
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Mesiodens, Narrow mouth, Long philtrum, Thick lower lip vermilion	ORPHA:314647
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Accessory oral frenulum...	OMIM:616546
Relapsing Polychondritis	Erythema, Alopecia, Atelectasis, Recurrent aphthous stomatitis, Renal insufficiency, Hematuria, P...	ORPHA:728
Infantile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Optic atrophy, Shoulder girdle muscle...	ORPHA:206436
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Hand clenching, Protruding tongue	OMIM:619580
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Lip pit, Micrognathia, Cryptorchidism, Gen...	ORPHA:1300
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Prominent finge...	ORPHA:363611
Multiple Pterygium Syndrome, Lethal Type	Short finger, Micrognathia, Cleft palate, Pulmonary hypoplasia	OMIM:253290
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Respiratory insufficiency, Proteinuria, Polyuria,...	OMIM:613845
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Short nail, Micromelia, Delayed eruption of teeth, Retrognathia, Long eyela...	ORPHA:1675
Johanson-Blizzard Syndrome	Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Death in infancy, Oligodontia,...	ORPHA:2315
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Recurrent upper respiratory tract infections, Delayed eruption of teeth, Rhizomelic arm shortenin...	ORPHA:508542
Floating-Harbor Syndrome	Carious teeth, Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Broad fingertip, Dis...	ORPHA:2044
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Coenzyme Q10 Deficiency, Primary, 8	Abnormal renal corticomedullary differentiation, Renal dysplasia, Pulmonary hypoplasia	OMIM:616733
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Finger syndactyly, Short toe, Long philtrum, Umbilical hernia, Thick eyebr...	ORPHA:1519
Dubowitz Syndrome	Carious teeth, Sparse lateral eyebrow, Velopharyngeal insufficiency, Delayed eruption of teeth, A...	OMIM:223370
Leigh Syndrome	Generalized aminoaciduria, Alopecia, Optic atrophy, Methylmalonic aciduria, Hypertrichosis, Renal...	ORPHA:506
Neu-Laxova Syndrome	Bifid uvula, Micromelia, Retrognathia, Abnormal hair morphology, Micrognathia, Thick vermilion bo...	ORPHA:2671
8Q21.11 Microdeletion Syndrome	Abnormality of the dentition, Finger syndactyly, Downturned corners of mouth, Camptodactyly of fi...	ORPHA:284160
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion, Brachydactyly...	OMIM:619680
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Bloom Syndrome	Pneumonia, Bronchitis, Retrognathia, Recurrent urinary tract infections, Micrognathia, Respirator...	ORPHA:125
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Ectodermal dysplasia, Delayed eruption of teeth	OMIM:129550
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Natal tooth, Sparse eyelashes, Hypoplastic sweat glands, Oligodontia, Hypodontia,...	OMIM:601345
Kinsship Syndrome	Mesomelia, Mandibular prognathia, Downturned corners of mouth, Thick lower lip vermilion, Widely ...	OMIM:619297
Digeorge Syndrome	High, narrow palate, Unilateral renal agenesis, Recurrent pneumonia, Bifid uvula, Cholelithiasis,...	OMIM:188400
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Recurrent respiratory infections, Cyanosis	ORPHA:2004
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Sparse eyebrow, Hemiatrophy, Stippled calcifi...	OMIM:302960
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Bifid uvula, Hypoplasia of the tooth germ, Micrognathia, Contracture of the proximal interphalang...	ORPHA:293967
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Arboleda-Tham Syndrome	Mandibular prognathia, Microretrognathia, Sandal gap, Downturned corners of mouth, Enlarged proxi...	OMIM:616268
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Abnormal dental enamel morphology, Micr...	ORPHA:2363
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Curry-Jones Syndrome	High anterior hairline, Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot...	OMIM:601707
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Cr...	OMIM:276820
Bickerstaff Brainstem Encephalitis	Pneumonia, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autono...	ORPHA:79138
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Orthostatic Hypotension 1	High palate, Brachydactyly, Retrograde ejaculation	OMIM:223360
Distal Deletion 9P	High, narrow palate, Abnormality of the dentition, Brachydactyly, Cleft palate	ORPHA:1642
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick upper lip vermilion, Narrow mouth, Brachydactyly, Thick lower lip vermilion	OMIM:608624
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Sweeney-Cox Syndrome	Short distal phalanx of finger, Velopharyngeal insufficiency, Bilateral cryptorchidism, Micrognat...	OMIM:617746
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis	ORPHA:139466
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Alopecia, Congenital hip dislocation, Finger syndactyly, Cryptorc...	ORPHA:1647
Incontinentia Pigmenti	Optic atrophy, Alopecia, Coarse hair, Conical tooth, Delayed eruption of teeth, Fine hair, Supern...	OMIM:308300
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge, Micrognathia, Crypto...	ORPHA:3472
X Small Rings	Toe syndactyly, Long philtrum, Upper limb undergrowth, Lower limb undergrowth, Low posterior hair...	ORPHA:96201
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Sparse eyelashes, Ectodermal dysplasia, Everted lower lip vermilion, ...	OMIM:613610
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Respiratory insufficiency	ORPHA:93941
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Progeroid facial appearance, Premature graying of hair, Micrognathia, Reduced subcutaneous adipos...	ORPHA:280365
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Cerebrofacioarticular Syndrome	Renal hypoplasia, Hypoplasia of the maxilla, Caudal appendage, Micrognathia, Narrow mouth, Irregu...	ORPHA:314679
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Bilateral single transverse p...	ORPHA:3310
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Postaxial polydactyly, Synophrys	OMIM:615824
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Retrognathia, Vesicoureteral reflux, Polydactyly, Thin vermilion border, Optic di...	OMIM:619869
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Glandular hypospadias, Talipes equinovarus, Pneumothorax, Short femur, Pulmonary hyp...	OMIM:620306
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Decreased testicular size, Persistence of primary teeth, Stenosis of the medullary...	ORPHA:93325
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death...	OMIM:263200
Vacterl With Hydrocephalus	Renal agenesis, Retrognathia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Hypoplasia ...	ORPHA:3412
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly	ORPHA:139471
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, Encephal...	OMIM:605627
Nijmegen Breakage Syndrome	Recurrent pneumonia, Retrognathia, Abnormal hair morphology, Cutaneous photosensitivity, Low ante...	ORPHA:647
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne...	ORPHA:95430
Hutchinson-Gilford Progeria Syndrome	Alopecia totalis, Ankyloglossia, Micrognathia, Short lingual frenulum, Narrow mouth, Absent eyebr...	ORPHA:740
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Micropenis, Respiratory failure, Cryptorchidism, Death in childhood	OMIM:619847
Bosma Arhinia Microphthalmia Syndrome	Cleft lip, Dental malocclusion, Inguinal hernia, Paranasal sinus hypoplasia, High palate, Hypopla...	OMIM:603457
Occipital Horn Syndrome	Humerus varus, Genu valgum, Abnormal fibula morphology, Short palm, Hip dislocation, High, narrow...	ORPHA:198
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Respiratory insufficiency, Respiratory tract infection, Respiratory insuffici...	ORPHA:308552
Intellectual Developmental Disorder, Autosomal Dominant 57	Narrow mouth, Thin upper lip vermilion, Brachydactyly, Absent fourth finger distal interphalangea...	OMIM:618050
Joubert Syndrome 39	Postaxial polydactyly, Joint contracture of the 5th finger	OMIM:619562
Chronic Pneumonitis Of Infancy	Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis	ORPHA:91359
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory insufficiency, 3-Methylglutaconic aciduria, Bile duct proliferation, R...	OMIM:618329
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Ketonuria, Umbilical hernia, High palate, Syndactyly	OMIM:614520
White-Sutton Syndrome	Bifid uvula, Broad thumb, Hypoplastic cervical vertebrae, Downturned corners of mouth, Micrognath...	OMIM:616364
Faciocardiomelic Syndrome	Dental malocclusion, Slender long bone, Long philtrum, Hyperplasia of the maxilla, Micrognathia, ...	OMIM:612731
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Emphyse...	ORPHA:634
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy...	OMIM:231680
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Long penis, Hypertrichosis, Advanced eruption of teeth, High palate, Mandibular prognathia	OMIM:262190
Constricting Bands, Congenital	Cleft upper lip, Abnormal lung lobation, Encephalocele, Talipes equinovarus, Hand polydactyly, Bl...	OMIM:217100
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Micrognathia, Tented upper lip vermilion, Polydactyly, Deep philtrum, High palate	ORPHA:314655
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad long bones, Micrognathia, Broad phalanx, High palate, Short metacarpal, Abnormal calcificat...	OMIM:271665
Pachyonychia Congenita 2	Sparse eyebrow, Dry hair, Natal tooth, Oral leukoplakia, Nail dystrophy, Angular cheilitis, Palmo...	OMIM:167210
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle weakness	OMIM:612069
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hypospadias, Respiratory insufficiency, 3-hydroxydicarboxylic aciduria, Cyanosis, Death in infanc...	OMIM:252010
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Downturned corners of mouth, Thin upper lip vermilion, Brachydactyly, Cleft pa...	ORPHA:457193
Ayme-Gripp Syndrome	Craniofacial asymmetry, Abnormality of the dentition, Long philtrum, Narrow mouth, Malar flatteni...	OMIM:601088
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly	OMIM:619471
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Delayed eruption of teeth	OMIM:617105
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Bilateral lung agenesis, Unila...	ORPHA:49
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure, Cyanosis	ORPHA:444013
Atrial Septal Defect, Ostium Primum Type	Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Recurrent respiratory infections, Clubbi...	ORPHA:99106
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Carious teeth, Downturned corners of mouth, Ivory epiphyses of...	OMIM:136140
Peutz-Jeghers Syndrome	Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma	ORPHA:2869
Fanconi Anemia, Complementation Group F	Pneumonia, Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Decreased response to growt...	OMIM:603467
Acrocephalopolydactylous Dysplasia	Micromelia, Pancreatic fibrosis, Postaxial hand polydactyly, Extrapulmonary lobar sequestration, ...	OMIM:200995
Charge Syndrome	Abnormal tibia morphology, Abnormal cranial nerve morphology, Narrow mouth, Cryptorchidism, Respi...	ORPHA:138
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Toe syndactyly, Renal agenesis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Syr...	ORPHA:140952
Craniofacioskeletal Syndrome	Small hand, Micrognathia, Hypoplastic frontal sinuses, Thin upper lip vermilion, Brachydactyly, N...	OMIM:300712
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Bilateral cryptorchidism, Trichorrhexis nodosa, Tiger tail banding, B...	OMIM:616395
Cloacal Exstrophy	Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc...	ORPHA:93929
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Renal tubular dysfunction, Pulmonary edema, Hematuria, Decreased u...	ORPHA:31826
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Syndactyly, Clinodactyly, Hemolytic-uremic syndrome	ORPHA:2169
Joubert Syndrome 14	Open mouth, Encephalocele, Malar flattening, Tented upper lip vermilion, Postaxial polydactyly, S...	OMIM:614424
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Myelopathy, Respiratory failure, Death in childhood	OMIM:617186
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Slender long bone, Long philtrum, Camptodactyly of finger, Small placenta, U...	OMIM:208150
Infantile Systemic Hyalinosis	Micromelia, Camptodactyly of finger, Abnormal dental morphology, Gingival overgrowth, Brachydacty...	ORPHA:2176
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae, Ethylmalonic aciduria	OMIM:602473
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Subcutaneous hemorrhage, Cutis m...	ORPHA:1556
Frank-Ter Haar Syndrome	Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of the long bones, Talipes equinov...	OMIM:249420
Monosomy 22	Finger syndactyly, Long philtrum, Retrognathia, Open mouth, Single transverse palmar crease, Apla...	ORPHA:96123
Alg8-Cdg	Camptodactyly, Talipes equinovarus, Macroglossia, Brachydactyly	ORPHA:79325
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Long philtrum, Widely spaced teeth, Trident pelvis, Short lingual frenulum, Short humerus, Microd...	OMIM:619479
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Optic atrophy, Ulnar deviation of finger, Neonatal respiratory distress, Clinodactyly, Sandal gap...	OMIM:618164
Lethal Congenital Contracture Syndrome 9	Joint contracture of the hand, Cardiorespiratory arrest, Micrognathia, Short umbilical cord, Thin...	OMIM:616503
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl...	ORPHA:373
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Macroglossia, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal...	ORPHA:369950
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Cryptorchidism, Encephalocele, Renal hypoplasia/aplasia, High ...	ORPHA:2052
Kniest Dysplasia	Enlarged metaphyses, Delayed epiphyseal ossification, Dumbbell-shaped femur, Abnormality of the e...	ORPHA:485
Ogden Syndrome	Everted upper lip vermilion, Facial wrinkling, Thick upper lip vermilion, Micrognathia, Cryptorch...	OMIM:300855
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Small cervical vertebral bodies, Rhizomelic arm shortening, Proximal femor...	ORPHA:397715
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ...	ORPHA:322
Duane Retraction Syndrome	Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Micrognathia, Talipes equinovar...	ORPHA:233
Monosomy 9Q22.3	Palmar pits, Delayed eruption of teeth, Long philtrum, Umbilical hernia, Narrow mouth, Nephroblas...	ORPHA:77301
Branchioskeletogenital Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Abnormality of the dentition, Downturned c...	ORPHA:1299
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Spontaneous pneumothorax, Recurrent pneumonia, Oliguria, Recurrent urinary t...	ORPHA:731
Combined Oxidative Phosphorylation Deficiency 25	Smooth philtrum, Syndactyly, Long philtrum, Aspiration pneumonia	OMIM:616430
Familial Dysautonomia	Optic atrophy, Abnormal pleura morphology, Renal insufficiency, Glomerulopathy, Orthostatic hypot...	ORPHA:1764
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem...	OMIM:258315
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Neurogenic bladder, Spinocerebellar tract degeneration, D...	ORPHA:276244
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Broad alveolar ridges, Cleft lip, Annular pancreas, Furrowed tongue, Micrognathia,...	OMIM:616975
Wrinkly Skin Syndrome	Congenital hip dislocation, Carious teeth, Excessive skin wrinkling on dorsum of hands and finger...	ORPHA:2834
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Trisomy 8P	Short fifth metatarsal, Bifid uvula, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinod...	ORPHA:264450
Kindler Epidermolysis Bullosa	Erythema, Carious teeth, Palmoplantar keratoderma, Finger syndactyly, Periodontitis, Camptodactyl...	ORPHA:2908
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Vater/Vacterl Association	Occipital encephalocele, Renal agenesis, Short thumb, Preaxial polydactyly, Tethered cord, Vesico...	OMIM:192350
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Grou...	OMIM:233450
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Long ...	ORPHA:93271
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Dural ectasia, Broad uvula, Retrognathia, Bruising susceptibili...	OMIM:614816
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture, Abnormality of the dentition, Respiratory failure	ORPHA:88618
Stickler Syndrome	Open bite, Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Hip dislocation, Protrus...	ORPHA:828
Genitopatellar Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Delayed eruption of teeth, Inferior pub...	OMIM:606170
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Total anomalous pulmonary venous return, Renal agenesis, Horseshoe ki...	OMIM:306955
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia	OMIM:601809
Familial Multiple Lipomatosis	Bowing of the long bones, Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw	ORPHA:199276
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Micrognathia, Protruding tongue, Single transverse palmar crease, Thin upper lip ve...	OMIM:617062
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly	OMIM:219730
Neu-Laxova Syndrome 2	Toe syndactyly, Finger syndactyly, Micrognathia, Spina bifida, High palate, Rocker bottom foot, C...	OMIM:616038
Double Outlet Right Ventricle	Narrow mouth, Cyanosis, Submucous cleft hard palate, Hypoparathyroidism, Pulmonary artery atresia...	ORPHA:3426
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Down Syndrome	Abnormality of the dentition, Macroglossia, Sandal gap, Downturned corners of mouth, Thick lower ...	ORPHA:870
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Cyanosis, Micropenis, Hypospadias, Scrotal hyposp...	OMIM:250790
Holoprosencephaly 9	Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusion, Downturned corners ...	OMIM:610829
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology, Delayed eruption of permanent ...	ORPHA:839
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins...	OMIM:615067
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Decreased glomerular fi...	ORPHA:340
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphysema, Hypoxemia, Pleural effus...	OMIM:181000
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Aganglionic megacolon, Abnormality of the b...	ORPHA:3339
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Increased circulating prolactin concentration, Prominent scalp veins, Narrow mouth, ...	ORPHA:3455
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Cryptorchidism, Talipes equinovarus, Pulmonary bulla, Fragile skin, Finger joint h...	OMIM:130050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly	OMIM:603387
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Micrognathia, Malar flattening, Inguinal hernia	OMIM:613848
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Recurrent lower respiratory tract infections, Long eyelashes, Micrognathia, Natal tooth	OMIM:617802
Poliomyelitis	Myelitis, Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requ...	ORPHA:2912
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Shwachman-Diamond Syndrome	Pneumonia, Carious teeth, Proximal femoral epiphysiolysis, Delayed eruption of teeth, Pancreatic ...	ORPHA:811
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Clinodactyly, Genu valgum, Micrognathia, Open mouth, Protruding tongue, Talipes equinovarus, High...	OMIM:309580
Carnitine-Acylcarnitine Translocase Deficiency	Respiratory insufficiency, Oliguria, Cyanosis, Dicarboxylic aciduria	ORPHA:159
Jacobsen Syndrome	Toe clinodactyly, Multicystic kidney dysplasia, Toe syndactyly, Annular pancreas, Finger syndacty...	ORPHA:2308
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Small hand, Abnormality of the dentition, Long philtrum, Postaxial polydactyly, Smoo...	OMIM:300968
Tuberous Sclerosis Complex	Chronic kidney disease, Pituitary adenoma, Generalized abnormality of skin, Pheochromocytoma, Sta...	ORPHA:805
Degcags Syndrome	Chronic kidney disease, Toe syndactyly, Premature graying of hair, Genu valgum, Micrognathia, Pro...	OMIM:619488
Carpenter Syndrome 2	Broad thumb, Carious teeth, Cutaneous finger syndactyly, Talipes equinovarus, High palate, High, ...	OMIM:614976
Congenital Sialidosis Type 2	Generalized hypertrichosis, Polydactyly	ORPHA:93400
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Exaggerated median tongue furrow, Microglossia, Lon...	OMIM:608670
Renal Agenesis, Bilateral	Renal agenesis, Sirenomelia, Non-midline cleft of the upper lip, Cleft palate, Pulmonary hypoplasia	ORPHA:1848
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Sparse eyebrow, Supernumerary nipple, Shor...	ORPHA:1521
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Lead Poisoning	Chronic kidney disease, Delayed eruption of teeth, Abnormality of the autonomic nervous system, R...	ORPHA:330015
Wrinkly Skin Syndrome	Congenital hip dislocation, Short nail, Carious teeth, Slender long bone, Delayed eruption of tee...	OMIM:278250
Amyotrophic Lateral Sclerosis 1	Amyotrophic lateral sclerosis, Degeneration of anterior horn cells	OMIM:105400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Long philtrum, Micrognathia, Tented upper lip vermilion, Single transverse palmar crease, Postaxi...	OMIM:617527
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Respiratory failure, Anomalous pulmonary venous return, Respiratory failure ...	ORPHA:555874
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Abnormality of canine, Short thumb, Widely spaced teeth, Abnormal palate morphology, Thin upper l...	ORPHA:477993
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Optic neuropathy,...	OMIM:610505
Mend Syndrome	Microretrognathia, Broad hallux, Overlapping toe, Overlapping fingers, Micrognathia, Polydactyly,...	OMIM:300960
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Respiratory failure, Cryptorchidism	OMIM:620327
Congenital Disorder Of Glycosylation, Type Iiw	Ankyloglossia, Micrognathia, Inguinal hernia, Supernumerary tooth	OMIM:619525
Microphthalmia, Syndromic 1	Tooth malposition, Joint contracture of the hand, Clinodactyly, Cryptorchidism, Renal hypoplasia/...	OMIM:309800
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Long philtrum, Thick lower lip vermilion, Overlapping toe, Micrognathia...	OMIM:309590
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Widely spaced teeth, Aspiration pneumonia, Gingival overgrowth, Microd...	OMIM:301072
Fraser Syndrome 1	Renal hypoplasia, Dental malocclusion, Dental crowding, Cleft upper lip, Myelomeningocele, Cutane...	OMIM:219000
Renal Tubular Dysgenesis	Abnormality of the urinary system, Anuria, Renotubular dysgenesis, Respiratory insufficiency, Pul...	OMIM:267430
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Respiratory failure	ORPHA:3240
3Mc Syndrome 3	Radioulnar synostosis, Highly arched eyebrow, Clinodactyly, Preaxial polydactyly	OMIM:248340
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Neonatal Marfan Syndrome	High, narrow palate, Neonatal respiratory distress, Emphysema, Decreased testicular size, Microgn...	ORPHA:284979
Chops Syndrome	Coarse hair, Long eyelashes, Thick eyebrow, Brachydactyly, Thick hair, Curly hair, Synophrys	OMIM:616368
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis, Cleft lip, B...	OMIM:611812
Immunodeficiency 49	Natal tooth, Umbilical hernia, Micrognathia, Hirsutism, Pulmonary artery stenosis, Short philtrum	OMIM:617237
Bardet-Biedl Syndrome	Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cryptorchidi...	ORPHA:110
Agnathia-Otocephaly Complex	Microglossia, Aglossia, Micrognathia, Narrow mouth, Mandibular aplasia, Cleft palate, Pulmonary h...	OMIM:202650
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Poor wound healing, Umbilical hernia, Emphysema, Arachnodac...	OMIM:219100
Alagille Syndrome	Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia	ORPHA:52
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:608030
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Retrognathia, Overlapping toe, Ope...	OMIM:616580
Maternal Phenylketonuria	Clinodactyly, Long philtrum, Micrognathia, Bifid distal phalanx of the thumb, Brachydactyly, High...	ORPHA:2209
Histiocytoid Cardiomyopathy	Optic atrophy, Cyanosis, Polycystic ovaries, Pulmonary edema, Renal cyst, Cleft palate	ORPHA:137675
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Abno...	ORPHA:2470
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, High palate, Prominent fingertip pads, Mesoaxial foot...	OMIM:612474
Pagod Syndrome	Optic atrophy, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Encephalocele, Abnormal...	ORPHA:991
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Optic disc coloboma, Renal duplication	OMIM:270420
Fabry Disease	Nephropathy, Optic atrophy, Thick lower lip vermilion, Emphysema, Respiratory insufficiency, Abno...	ORPHA:324
Cinca Syndrome	Brachydactyly	ORPHA:1451
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Decreased nerve conduction veloci...	ORPHA:600
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum, Open mouth, Cryptorchi...	ORPHA:261537
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognathia, Bilateral...	OMIM:216340
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung...	ORPHA:3384
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Macroglossia, Thick lower lip vermilion, Tented upper lip vermilion...	ORPHA:847
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Glomerular sclerosis, Orthostatic hypotension, Acrocyanos...	OMIM:223900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Carious teeth, Hyperplasia of the maxilla, Micrognathia, Sparse hair, Cone-sha...	OMIM:150230
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Enamel hypoplasia, Hypomature enamel	OMIM:248250
Sotos Syndrome	Small cell lung carcinoma, Cryptorchidism, Hip contracture, Talipes equinovarus, Abnormality of t...	ORPHA:821
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Retrognathia, Pancreatic hypoplasia, Overlapping toe, Contracture of...	ORPHA:83617
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Abnormality of the temporomandibular joint, Umbilica...	ORPHA:287
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Alopecia, Cholelithiasis, Shoulder girdle muscle weakness, Decr...	ORPHA:273
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Spinal arteriovenous malfor...	OMIM:187300
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae, Ethylmalonic aciduria	ORPHA:51188
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Microretrognathia, Narrow mouth, High palate, Pulmonary hypoplasia	OMIM:616866
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria, Respiratory failure, Respiratory insufficiency	OMIM:609015
Familial Partial Lipodystrophy, Dunnigan Type	Generalized hirsutism, Advanced eruption of teeth, Glomerulopathy, Polycystic ovaries	ORPHA:2348
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Optic atrophy, Scapular winging	OMIM:614298
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Talipes equi...	OMIM:312870
Hyperoxaluria, Primary, Type I	Optic atrophy, Nephrocalcinosis, Cutis marmorata, Hyperoxaluria, Renal insufficiency, Hematuria, ...	OMIM:259900
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Cleft upper ...	OMIM:603671
Pallister-Killian Syndrome	Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathia, Cryptorchidism, Spars...	OMIM:601803
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Cryptorchidism, ...	OMIM:107480
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis	OMIM:306400
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Mgat2-Cdg	Dental crowding, Open mouth, Brachydactyly, Scoliosis, Kyphosis	ORPHA:79329
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Baller-Gerold Syndrome	Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux	ORPHA:1225
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Mandibular prognathia, Cone-shaped epiphysis, Short finge...	OMIM:619841
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Retrognathia, Micrognathia, Narrow mouth, Open mouth, Petechiae, Neo...	OMIM:608013
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Broad thumb, Finger syndactyly, Long philtrum, Preaxial hand polydacty...	ORPHA:2211
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Dextrocardia	Abnormality of the ureter, Abnormal renal morphology	ORPHA:1666
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Petechiae, Cyanosis, Jaundice, Purpura	ORPHA:90051
Malignant Atrophic Papulosis	Telangiectasia of the skin, Pleural effusion, Respiratory failure, Abnormality of the lower urina...	ORPHA:679
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Umbilical hernia, Emphysema, Decreased response to growth hormone ...	OMIM:616835
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Cryptorchidism, Abnormal metacarpal morph...	OMIM:268300
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Tooth malposition, Abnormality of the dentition, Retrognathia, Cranial nerve compr...	ORPHA:2785
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Multicystic kidney dysplasia, Long hallux, Genu valgum, Open mouth, Cryptorchi...	ORPHA:261552
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Small hand, Proportionate shortening of all digits, Microretrognathia...	ORPHA:280633
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Mowat-Wilson Syndrome	Tooth malposition, Multicystic kidney dysplasia, Genu valgum, Open mouth, Cryptorchidism, Chordee...	ORPHA:2152
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of ...	ORPHA:306542
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing	ORPHA:225147
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis...	OMIM:245150
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Broad femoral neck, Long philtrum, Thick lower lip vermilion, Thick upper lip verm...	OMIM:619727
Muscular Dystrophy, Duchenne Type	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:310200
Dermatomyositis	Erythema, Alopecia, Shawl sign, V-sign, Respiratory insufficiency, Acrocyanosis, Lung adenocarcin...	ORPHA:221
Opitz Gbbb Syndrome	Abnormality of the urinary system, Natal tooth, Cleft lip, Long philtrum, Umbilical hernia, Ankyl...	ORPHA:2745
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Keloids, Camptodactyly of finger, Corneal scarring, Enamel hypoplasia	OMIM:309000
Restrictive Dermopathy	Sparse eyebrow, Short nail, Natal tooth, Camptodactyly of finger, Temporomandibular joint ankylos...	ORPHA:1662
Mullegama-Klein-Martinez Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long philtrum, Micrognathia, Pol...	OMIM:301022
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Hypoplasia of the zygomatic bone, Premature skin wrinkling, Cutaneous finger synd...	OMIM:200110
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:1587
Meester-Loeys Syndrome	Bifid uvula, Broad distal phalanx of finger, Gingival overgrowth, Malar flattening, Arachnodactyl...	OMIM:300989
Congenital Tracheal Stenosis	Neonatal asphyxia, Abnormal lung lobation, Abnormality of the ureter, Anomalous origin of left pu...	ORPHA:141127
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Hypoplastic iliac wing, Protruding tongue, S...	OMIM:190685
Microphthalmia, Syndromic 6	Bifid uvula, Female hypogonadism, Toe syndactyly, Microglossia, Finger syndactyly, Retrognathia, ...	OMIM:607932
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Dental crowding, Umbilical her...	OMIM:619769
Dpagt1-Cdg	Optic atrophy, Clinodactyly, Hypertrichosis, Diffuse optic disc pallor, Arachnodactyly, Camptodac...	ORPHA:86309
Proteus Syndrome	Pulmonary cyst, Carious teeth, Finger syndactyly, Open mouth, Generalized hirsutism, Abnormal met...	ORPHA:744
Turnpenny-Fry Syndrome	Abnormality of the dentition, Dental malocclusion, Downturned corners of mouth, Dental crowding, ...	OMIM:618371
X-Linked Hypophosphatemia	Cellulitis, Abnormal dentin morphology, Tooth abscess, Enthesitis, Odontodysplasia	ORPHA:89936
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neonatal death, Respiratory arrest, Death...	OMIM:617248
Stromme Syndrome	Preaxial polydactyly, Micrognathia, Stillbirth, Wide mouth, Cleft palate	OMIM:243605
Glycogen Storage Disease Of Heart, Lethal Congenital	Pleural effusion, Cyanosis, Pulmonary edema, Macroglossia, Enlarged kidney	OMIM:261740
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Hyperecho...	OMIM:208540
Lumbar Syndrome	Renal agenesis, Vesicoureteral reflux, Renal duplication, Micropenis, Hypospadias, Bladder exstrophy	ORPHA:83628
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Barber-Say Syndrome	Delayed eruption of teeth, Breast aplasia, Sparse or absent eyelashes, Generalized hirsutism, Hyp...	ORPHA:1231
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Radial deviation of finger, Clinodactyly, Male infertil...	OMIM:163950
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Erythema, Retrognathia, Abnormal dental enamel morphology, Micrognathi...	ORPHA:2556
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlapping toe, Narrow mou...	OMIM:613406
Listeriosis	Pneumonia, Acute kidney injury, Pyelonephritis, Jaundice, Respiratory failure, Miscarriage	ORPHA:533
Meacham Syndrome	Horseshoe kidney, Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal d...	OMIM:608978
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Pulmonary sequestration, Hypoxemia, Pulmonary hypoplasia	ORPHA:2847
Tetraamelia Syndrome 1	Renal agenesis, Cleft upper lip, Hypoplastic pelvis, Micrognathia, Adrenal gland agenesis, Urethr...	OMIM:273395
Multiple Mitochondrial Dysfunctions Syndrome 7	Gingival overgrowth, Open mouth, Cyanosis, Respiratory failure requiring assisted ventilation	OMIM:620423
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Thick eyebrow, Single transverse palmar crease, Hirsutism, Brachydactyl...	ORPHA:466950
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Abnormal pulmonary thoracic imaging f...	ORPHA:980
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Neonatal respiratory distress, Cyanosis, Death in infancy, Death in childhood, Recurrent lower re...	OMIM:618426
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Fucosidosis	Abnormality of the dentition, Mucopolysacchariduria, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Holoprosencephaly	Abnormal form of the vertebral bodies, Hypoplasia of the zygomatic bone, Tooth agenesis, Median c...	ORPHA:2162
Loeys-Dietz Syndrome 2	Bifid uvula, Joint contracture of the hand, Retrognathia, Micrognathia, Malar flattening, Absent ...	OMIM:610168
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Long philtrum, Long eyelashes, 2-3 toe syndactyly, 3-4 finger syndactyly, Hypospadias	OMIM:615877
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Duplication of renal pelvis, Delayed eruption of teeth, Recurrent u...	ORPHA:2036
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Downturned corners of mouth, Long philtrum, Hypoplasia...	ORPHA:444077
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Emphysema, Respiratory insufficiency, Abnormal pulmonary inte...	OMIM:613658
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Recurrent aphthous stomatitis, Purpura, Acrocyanosis, Urticaria	ORPHA:343
Noonan Syndrome	Thick lower lip vermilion, Delayed menarche, Micrognathia, Radioulnar synostosis, Hypogonadotropi...	ORPHA:648
Hartsfield Syndrome	Hypoplasia of the frontal bone, Ectrodactyly, Cleft upper lip, Cryptorchidism, Median cleft upper...	OMIM:615465
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Orchitis, Hematuria, Proteinuria, Glomerulonephriti...	ORPHA:48435
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:352665
Abetalipoproteinemia	Talipes equinovarus, Respiratory failure	ORPHA:14
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Urethral stricture, Chordee, Broa...	OMIM:619522
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Peutz-Jeghers Syndrome	Abnormality of the ureter, Bladder polyp	OMIM:175200
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Retrognathia, Emphysema, Micrognathia, De...	OMIM:614437
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral...	ORPHA:90349
Coffin-Siris Syndrome 12	Broad thumb, Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Radioulnar synostosis, H...	OMIM:619325
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Dental crowding, Elbow dislocation, Bruising susceptibility, Umbilical herni...	ORPHA:285
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Iniencephaly	Rhizomelia, Spinal dysraphism, Renal agenesis, Myelomeningocele, Narrow mouth, Encephalocele, Syr...	ORPHA:63259
Legius Syndrome	Clinodactyly of the 5th finger, Polydactyly	ORPHA:137605
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Bifid uvula, Recurrent pneumonia, Sandal gap, Long philtrum, Umbilical hernia, ...	OMIM:620330
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Dental crowding, Retrognathia, Long philtrum, Malar flattening, C...	OMIM:617157
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder, Amyotrophic lateral sclerosis	OMIM:615911
Toriello-Carey Syndrome	Clinodactyly, Micrognathia, Abnormal palate morphology, Brachydactyly, High palate, Cleft palate	ORPHA:3338
Ramon Syndrome	Delayed eruption of teeth, Hypertrichosis, Angiokeratoma, Telangiectasia, Optic disc pallor, Narr...	OMIM:266270
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o...	ORPHA:449395
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Necrotizing Enterocolitis	Cyanosis	ORPHA:391673
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Unilateral Polymicrogyria	Cyanosis, Giant somatosensory evoked potentials, Pulmonary arteriovenous malformation	ORPHA:268943
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Carious teeth, Periodontitis, Bruising susceptibility, Stage 5 chronic kidney d...	ORPHA:79259
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Cardiac-Urogenital Syndrome	Scimitar anomaly, Cryptorchidism, 2-3 toe syndactyly, Penoscrotal hypospadias, Micropenis, Partia...	OMIM:618280
Cardiospondylocarpofacial Syndrome	Cone-shaped epiphysis, Long philtrum, Carpal synostosis, Wide mouth, Brachydactyly, Tarsal synost...	OMIM:157800
Eisenmenger Syndrome	Renal insufficiency, Cyanosis, Aortopulmonary window, Clubbing, Hypoxemia	ORPHA:97214
Vici Syndrome	Albinism, Hypopigmentation of hair, Abnormal posturing	OMIM:242840
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Downturned corners of mouth, Single transverse palmar crease, Thin upper lip vermilion, Brachydac...	ORPHA:466943
Diphallia	Penoscrotal transposition, Bladder exstrophy, Horseshoe kidney, Distal urethral duplication, Rena...	ORPHA:227
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
Nocardiosis	Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis, Respiratory failure	ORPHA:31204
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Pulmonary infiltrates, Jaundice, Abnormal lung m...	ORPHA:646
Thoracoabdominal Syndrome	Renal agenesis, Cleft upper lip, Anencephaly, Hypospadias, Cleft palate, Pulmonary hypoplasia	OMIM:313850
Khan-Khan-Katsanis Syndrome	Clinodactyly, Micrognathia, Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth	OMIM:618460
Cowden Syndrome	Palmoplantar keratoderma, Furrowed tongue, Brachydactyly, Macroglossia, High palate, Scoliosis, K...	ORPHA:201
Complete Atrioventricular Septal Defect	Recurrent pneumonia, Cyanosis	ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Respiratory failure, Death in childhood	OMIM:618252
Jacobsen Syndrome	Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, U-Shaped upper lip vermilion	OMIM:147791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Odontomicronychial Dysplasia	Short nail, Premature eruption of permanent teeth	OMIM:601319
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Cortical nephrocalcinosis, Medullary nephrocalcinosis, Abnormal hip joint morph...	ORPHA:51608
Pgm3-Cdg	High palate, Brachydactyly, Chronic sinusitis	ORPHA:443811
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Short toe, Micromelia, Long philtrum, Cleft upper lip, Widely spaced ...	ORPHA:709
Genitourinary And/Or Brain Malformation Syndrome	Long philtrum, Micrognathia, Streak ovary, Cryptorchidism, Chordee, Urogenital sinus anomaly, Mic...	OMIM:618820
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Abnormality of the dentition, Tooth malposition, Congenital hip dislo...	ORPHA:480880
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Hypoplasia of the maxilla, Occipital encephalocele, Renal agenesis,...	OMIM:164210
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Orofacial cleft, Short femur, Short humerus, Polydactyly	ORPHA:17
Cardiogenic Shock	Cyanosis, Oliguria, Hypoxemia	ORPHA:97292
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Respiratory failure requiri...	OMIM:619351
Moderate Hemophilia A	Gingival bleeding, Hip contracture, Cartilage destruction	ORPHA:169805
Cardiac Valvular Dysplasia 1	Hydroureter, Urethral diverticulum, Cyanosis, Hydronephrosis, Pulmonary artery atresia	OMIM:212093
1P36 Deletion Syndrome	Long philtrum, Camptodactyly of finger, Hypogonadism, Clinodactyly of the 5th finger, Narrow mout...	ORPHA:1606
Alstrom Syndrome	Alopecia, Polydactyly	OMIM:203800
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Delayed eruption of teeth, Supernumerary...	OMIM:235730
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Dilatation of the renal pelvis, Dark urine, Neonatal death, Broad first metatarsal, ...	OMIM:619534
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Anomalous pulmonary venous return	ORPHA:99104
Double Outlet Left Ventricle	Cyanosis, Pulmonary artery stenosis, Orofacial cleft, Cryptorchidism	ORPHA:3427
Williams Syndrome	Carious teeth, Dental malocclusion, Hypoplasia of the zygomatic bone, Long philtrum, Umbilical he...	ORPHA:904
Okamoto Syndrome	Exaggerated median tongue furrow, Downturned corners of mouth, Open bite, Open mouth, Tented uppe...	ORPHA:2729
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Respiratory insufficiency	OMIM:617239
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Urinary retention, Widely spaced teeth, Delayed eruption of primary teeth, Spars...	OMIM:617799
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Bifid uvula, Cleft upper lip, Camptodactyly of finger, Long philtrum, Malar fla...	OMIM:607872
Loeys-Dietz Syndrome 1	Bifid uvula, Retrognathia, Micrognathia, Malar flattening, Arachnodactyly, Talipes equinovarus, P...	OMIM:609192
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ...	ORPHA:185
Myasthenia Gravis	Acrocyanosis, Glycosuria	ORPHA:589
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, Cyanosis, ...	OMIM:610655
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis	ORPHA:99103
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Cryptorchidism, Submucous...	ORPHA:2250
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Combined Pituitary Hormone Deficiencies, Genetic Forms	Abnormal digit morphology, Abnormality of secondary sexual hair, Polydactyly	ORPHA:95494
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis	OMIM:619132
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia, Pulmonary hypoplasia	OMIM:271520
Idiopathic Camptocormia	Syringomyelia, Myelitis, Amyotrophic lateral sclerosis	ORPHA:1320
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Respiratory failure requiring assisted ventila...	ORPHA:99125
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pers...	OMIM:147060
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology	ORPHA:2396
Aicardi-Goutières Syndrome	Micropenis, Cutis marmorata, Acrocyanosis, Prolonged neonatal jaundice	ORPHA:51
Aortic Arch Interruption	Aortopulmonary window, Cyanosis	ORPHA:2299
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Adult-Onset Still Disease	Cartilage destruction	ORPHA:829
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Reactive Arthritis	Recurrent aphthous stomatitis, Cartilage destruction	ORPHA:29207
Johanson-Blizzard Syndrome	Agenesis of permanent teeth, Hypoplasia of the primary teeth, Downturned corners of mouth, Long p...	OMIM:243800
Alkaptonuria	Calcification of cartilage, Cartilage destruction	ORPHA:56
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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