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Gene: Sp6 MGI:1932575

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

trans-acting transcription factor 6

Synonyms:

1110025J03Rik, Klf14, Epfn, epiprofin

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 Sp6 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 Sp6 (1 diseases)
Human diseases predicted to be associated with Sp6 (1251 diseases)

The table below shows human diseases associated to Sp6 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Ik		Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104

The table below shows human diseases predicted to be associated to Sp6 by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Anonychia-Microcephaly Syndrome	Abnormality of the dentition, Carious teeth, Aplastic/hypoplastic toenail, Clinodactyly of the 5t...	ORPHA:1094
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alo...	OMIM:226650
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical...	OMIM:613573
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia	ORPHA:79129
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse h...	ORPHA:1264
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Trichodentoosseous Syndrome	Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails	OMIM:190320
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Syndactyly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular ...	OMIM:613576
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Carious teeth, Flexion contracture, Hip disloc...	OMIM:203550
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail...	ORPHA:79402
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Anonychia With Flexural Pigmentation	Abnormal skin morphology of the palm, Macular telangiectasia, Abnormal hair morphology, Carious t...	ORPHA:69125
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly, Carious teeth, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Fai...	OMIM:226700
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Trichodental Dysplasia	Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair	OMIM:601453
Alopecia Antibody Deficiency	Recurrent respiratory infections, Abnormality of dental color, Abnormal eyelash morphology, Spars...	ORPHA:1006
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Flexion contracture of finger, Abnormal dental morphology, Interphalang...	ORPHA:69087
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M...	ORPHA:79405
Trichorhinophalangeal Syndrome, Type Iii	Short palm, Thin upper lip vermilion, Short metacarpal, Brachydactyly, Dental crowding, Avascular...	OMIM:190351
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M...	ORPHA:79406
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Anonychia, Palmoplanta...	ORPHA:79411
Filippi Syndrome	Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, Cutaneous syndactyly, Finger...	OMIM:272440
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ...	ORPHA:3352
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t...	ORPHA:248
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Abnormalit...	ORPHA:2228
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt...	ORPHA:2026
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern...	OMIM:619787
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary tooth, Low ...	ORPHA:1787
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormal fingern...	ORPHA:1515
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Carious teeth, Palmoplantar hyperkeratosis, Thick vermilion bor...	ORPHA:363523
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsuti...	OMIM:613684
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai...	ORPHA:2325
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased connective tissue, Carious teeth, Scarring alopecia of scalp, Palmoplantar hyperkeratos...	OMIM:226670
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Brachydactyly, Single transverse palmar crease, Hydrocele testis, Notched prim...	OMIM:620062
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Carious teeth, Telangiectasia, Livedo, Conical incisor, Onyc...	OMIM:614564
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Sparse eyebrow, Abnorm...	ORPHA:77258
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Single transverse palmar crease, Highly arched eyebrow, Synophrys, Supernumerary to...	OMIM:617412
Trichorhinophalangeal Syndrome Type 2	Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Brachydactyly, Redundant skin, Abnorm...	ORPHA:502
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Taurodontism	Taurodontia	OMIM:272700
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro...	ORPHA:139474
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath...	ORPHA:2980
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Hyperkeratotic papule, Skin...	ORPHA:79410
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Facial ery...	OMIM:612843
Zimmermann-Laband Syndrome	Hallux valgus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior o...	ORPHA:3473
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, High palate, Amelogenesis imperfecta, Microretrognathia, Obe...	OMIM:618363
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd...	OMIM:129400
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short foot, Upper limb undergrowth, Dentinogenesis imperfecta, Toe clinodactyly	ORPHA:166277
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Hypodontia, ...	OMIM:616029
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Hall-Riggs Syndrome	Metaphyseal dysplasia, Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the...	OMIM:234250
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Ramon Syndrome	Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Gingiva...	ORPHA:3019
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi...	ORPHA:166272
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Finger syndactyly, Abnormal dental morphology, Selective tooth...	ORPHA:1897
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Palmoplantar keratoderma, Hypodontia, Gen...	ORPHA:1816
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Abnormality of the dentition, Conical tooth, Hypoplastic toenails...	ORPHA:952
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Odontochondrodysplasia 1	Delayed eruption of teeth, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Mic...	OMIM:184260
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Brittle Cornea Syndrome 1	Congenital hip dislocation, Atypical scarring of skin, Palmoplantar cutis laxa, Red hair, Dentino...	OMIM:229200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Synophrys, Abnormal...	ORPHA:3268
Heimler Syndrome 1	Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta	OMIM:234580
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Obesity,...	OMIM:612463
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arch...	OMIM:605282
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, M...	ORPHA:79409
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Downturned corners of mouth, Abnormal epiphysis morphology, Ena...	ORPHA:2643
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Anterior radial ...	OMIM:610967
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Micrognathia, Bowing of the l...	OMIM:613849
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
48,Xyyy Syndrome	Thick lower lip vermilion, Recurrent upper respiratory tract infections, Irregularly spaced teeth...	ORPHA:99329
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ...	OMIM:141300
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Ameloonychohypohidrotic Syndrome	Marked delay in eruption of permanent teeth, Onycholysis, Yellow-brown discoloration of the teeth...	OMIM:104570
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Micrognathia, Abnormality of the dentition, Synophrys, High palate, S...	ORPHA:217340
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Fle...	ORPHA:88630
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic...	ORPHA:2722
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Short metacarpal, Abnormality of the dentition	ORPHA:627
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, 1-4 finger ...	OMIM:225280
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, High ...	OMIM:268400
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Prematurely aged appearance, Lipoatrophy, Micrognathia, Open bite, Crypto...	ORPHA:2617
Braddock-Carey Syndrome 1	Curly hair, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Thick vermilion border...	OMIM:619980
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Orofaciodigital Syndrome Iii	Hyperconvex nail, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot...	OMIM:258850
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse...	OMIM:601957
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Abnormal dental morphology, Camptodactyly of finger, Short thumb, Ur...	ORPHA:2251
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Micrognathia, High, na...	ORPHA:166108
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Osteogenesis Imperfecta, Type Xix	Bowing of the arm, Rhizomelia, Dentinogenesis imperfecta, Bowing of the legs	OMIM:301014
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spa...	OMIM:601349
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Obesity,...	OMIM:300602
Rothmund-Thomson Syndrome	Selective tooth agenesis, Sparse hair, Microdontia, Abnormality of the nail, Hypoplasia of the ul...	ORPHA:2909
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal fingerna...	ORPHA:3220
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp...	OMIM:618727
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Elbow dislocation, Fine hair, Abnormal hip bone morphology, Cl...	ORPHA:3236
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Ectodermal dysplasia, Sparse hair, Dystroph...	ORPHA:3253
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Wide distal femoral metaphysis, Generalized hirsutism, Femoral...	OMIM:614856
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m...	OMIM:620099
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal toe morphology, Alopecia, Abnormality of dental color, Abnormal finger morphology	OMIM:163200
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Pili Torti, Early-Onset	Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv...	OMIM:261900
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi...	ORPHA:2919
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Absent f...	OMIM:609638
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ...	ORPHA:59303
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Sparse hair, Hypoplasia of the primary ...	OMIM:257850
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Tapered finger, Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermi...	ORPHA:86818
Odontomicronychial Dysplasia	Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na...	ORPHA:1811
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Down...	ORPHA:2107
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Clino...	OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 21	Single transverse palmar crease, Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelas...	OMIM:615502
Osteogenesis Imperfecta, Type Xxii	Slender long bone, Bowing of the long bones, Pseudoarthrosis, Dentinogenesis imperfecta	OMIM:619795
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth,...	OMIM:257980
Heimler Syndrome 2	Beau's lines, Dental crowding, Leukonychia, Amelogenesis imperfecta	OMIM:616617
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Abnormality of the dentition, Clinodactyly, Abnormality of the frontal hai...	ORPHA:557003
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ...	OMIM:619752
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Coni...	OMIM:602400
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Dentinogenesis imperfecta	OMIM:259440
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Thick eyebrow, Sandal gap, Carious teeth, Overweight, Widow's peak, Sm...	OMIM:619229
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail...	OMIM:619692
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Cutis marmorata, Achilles tendon contractur...	OMIM:619719
Pachyonychia Congenita	Natal tooth, Alopecia, Angular cheilitis, Palmoplantar blistering, Paronychia, Onychogryposis of ...	ORPHA:2309
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Atkin-Flaitz Syndrome	Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro...	ORPHA:1193
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Thin upper lip vermilion, Micrognathia, Hirsutism, 2-3 toe syndactyly, Long eyelashes, Horizontal...	OMIM:618608
Specific Granule Deficiency 2	Brachydactyly, Sandal gap, Conical tooth, Recurrent pneumonia, Fragile nails, Nail dysplasia, Too...	OMIM:617475
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm...	OMIM:604625
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Cutaneous photosensitivity, Agenesis of maxillary lateral incisor	OMIM:616390
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Sparse eyebrow, Bilateral cleft li...	OMIM:618874
Trisomy 4P	Thick eyebrow, Camptodactyly of finger, Abnormal hair pattern, Abnormality of the dentition, Cari...	ORPHA:1738
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Carious teeth, Subperiosteal bo...	OMIM:277440
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta, Oligodontia, Widely sp...	OMIM:601216
Acrogeria	Prematurely aged appearance, Telangiectasia of the skin, Lipoatrophy, Micrognathia, Small hand, S...	ORPHA:2500
Chime Syndrome	Short philtrum, Short palm, Sparse hair, Microdontia, Abnormal dental morphology, Aplastic clavic...	ORPHA:3474
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Absent fifth fingernail, Toe syndactyly, Selective tooth agenesis, Conical tooth, Absent middle p...	OMIM:124480
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Recurrent respiratory infections, Abnormal...	ORPHA:10
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Nail dyst...	OMIM:226600
Aredyld Syndrome	Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental e...	ORPHA:1133
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth, Palmoplantar keratoderma, Fragile nails	OMIM:161000
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Jaundice, Orthokeratosis, ...	OMIM:607626
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, High palate, H...	OMIM:613823
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Onychogryposis, Cutis laxa, Hip dysplasia, Thin vermilion border, Cutaneous ...	OMIM:614378
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Finger syndactyly, Conical tooth, Carious teeth, Bilateral cleft lip and ...	ORPHA:1997
Barber-Say Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair...	OMIM:209885
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cr...	ORPHA:2863
Nicolaides-Baraitser Syndrome	High, narrow palate, Abnormal finger morphology, Hernia, Short palm, Sparse hair, Alopecia, Curly...	ORPHA:3051
Mulibrey Nanism	Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Thickened cortex of lon...	OMIM:253250
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Ectod...	OMIM:601345
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Hyperkeratosis, Coarse hair...	ORPHA:1883
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Atrophic scars, Nail dystrophy, Nail dysplasia, Arthrogryposis multiplex c...	OMIM:226730
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of...	OMIM:190350
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Progeroid Syndrome, Petty Type	Mandibular prognathia, Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appear...	ORPHA:2963
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Cryptorchidism, Thick vermilion border, Absen...	OMIM:614607
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Ha...	OMIM:311200
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the d...	ORPHA:3163
Qazi-Markouizos Syndrome	Tapered finger, Cryptorchidism, High, narrow palate, Hypoplasia of teeth, Delayed ossification of...	ORPHA:3010
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, C...	OMIM:619797
Scarf Syndrome	Inguinal hernia, Cryptorchidism, Low posterior hairline, Cutis laxa, Short sternum, Hypoplastic n...	ORPHA:3134
Cog7-Cdg	Failure to thrive, Small for gestational age, Micrognathia, Long fingers, Jaundice, Abnormal fing...	ORPHA:79333
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Acrofacial Dysostosis, Catania Type	Single transverse palmar crease, Carious teeth, Cryptorchidism, Widow's peak, Short palm	OMIM:101805
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Cleft palate, High palate, Evert...	OMIM:619736
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ...	OMIM:225060
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Hamamy Syndrome	Micrognathia, High palate, Sparse hair, Clinodactyly of the 5th finger, Abnormal number of hair w...	OMIM:611174
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef...	OMIM:617337
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly	OMIM:604757
Cranioectodermal Dysplasia 3	Rhizomelia, Short nail, Sandal gap, Micrognathia, 2-4 toe syndactyly, Postaxial polydactyly, 2-3 ...	OMIM:614099
Lacrimoauriculodentodigital Syndrome 3	Absent eyelashes, Short thumb, Carious teeth, Partial duplication of thumb phalanx, Widely spaced...	OMIM:620193
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Metaphyseal dysplasia, Diaphyseal dysplasia, Malar flattening, Failure to t...	OMIM:614727
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Natal tooth, Acantholysis, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy...	ORPHA:158687
Cerebellofaciodental Syndrome	Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, Dental malocclus...	OMIM:616202
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Short long bone,...	OMIM:619184
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Absent forearm, Overlapping toe, Single transverse palmar crease, Micrognathia, F...	OMIM:201170
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid...	ORPHA:2108
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers	OMIM:619489
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Hyperconvex nail, Thick lower lip vermilion, Dental m...	OMIM:157980
Cohen Syndrome	Short metacarpal, Small for gestational age, Decreased response to growth hormone stimulation tes...	OMIM:216550
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Sparse hair...	OMIM:164200
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Congenital hip dislocation, Redundant skin, Lipodystrophy, Abnorma...	OMIM:219200
Temple-Baraitser Syndrome	Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,...	ORPHA:420561
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Inguinal hernia, Smal...	OMIM:269880
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hair, Progeroid...	OMIM:608154
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ...	ORPHA:289
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Ectodermal dysplasia, Hypoplastic nipples, Nail dysplasia, Breast hypo...	OMIM:129550
Flynn-Aird Syndrome	Carious teeth, Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Laron Syndrome	Delayed eruption of teeth, Prematurely aged appearance, Micrognathia, Short toe, Abnormality of t...	ORPHA:633
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra...	OMIM:210720
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Abnormal lung morphology, Cleft palate, Upper limb phocome...	ORPHA:294975
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Small for gestational age, Down-sloping shoulders, Dorsocervical fat pa...	ORPHA:391408
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Tapered finger, Wide mouth, Hi...	OMIM:618825
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Low anterior hairline, Dental malocclusion, Brach...	OMIM:615314
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Postaxial hand p...	ORPHA:2935
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Wid...	OMIM:618067
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Ulnar deviation of the hand, Limb joint contractur...	OMIM:612079
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidis...	OMIM:103580
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Omphalocele, Congenital hip dislocation, In...	OMIM:614450
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham...	ORPHA:2751
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Mandibuloacral Dysplasia With Type B Lipodystrophy	Brittle hair, Dental crowding, Micrognathia, Flexion contracture, High palate, Sparse hair, Prema...	OMIM:608612
Char Syndrome	Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Per...	ORPHA:46627
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal distal phalanx morphology of finger, Prematurely aged appearance, Abnormality of the han...	ORPHA:1387
Seckel Syndrome	Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Cachexia, Micrognathia, Prematu...	ORPHA:808
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic...	ORPHA:763
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou...	ORPHA:582
Coffin-Siris Syndrome 3	Sparse scalp hair, Inguinal hernia, Central diaphragmatic hernia, Hirsutism, Short distal phalanx...	OMIM:614608
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Ulnar deviation of the wrist, Grayish enamel, Carious tee...	OMIM:253000
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra...	OMIM:601559
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Erythema, Urticaria, Hyperkeratosis, Dry skin	ORPHA:816
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Brachydactyly, Dental crowding, Macroglossia, Camptodactyly, High pala...	OMIM:616354
Seckel Syndrome 1	Ivory epiphyses, Dental crowding, Selective tooth agenesis, Single transverse palmar crease, Micr...	OMIM:210600
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Hypoplastic fingernail, Hypoplastic thumbnail, Micrognathia, Hypopla...	OMIM:619356
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Pseudohypoparathyroidism, Obesity,...	OMIM:612462
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Rocker bottom foot, Micr...	OMIM:214150
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Costello Syndrome	Deep-set nails, Failure to thrive in infancy, Abnormal dental enamel morphology, Redundant skin, ...	ORPHA:3071
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodact...	ORPHA:1327
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia...	OMIM:113000
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti...	ORPHA:3214
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly of the 5th finger, Sparse hair, A...	ORPHA:2710
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Brachydactyly, Abnormal dental enamel morphology, Abnormality of the...	ORPHA:1005
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum, Small nail	OMIM:300210
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Erythrodontia, Jaundice, Loss of eyelashes, Corneal scarring, Atypical ...	OMIM:263700
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of the hand, Cario...	ORPHA:3194
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Sparse eyebrow, Abnormal soft pala...	ORPHA:884
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Abnormal dental enamel morphology, Trichiasis, Cleft upper lip, Orofacial cleft, ...	OMIM:601701
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Natal tooth, Subungual hyperkeratosis, Angular cheilitis, Sparse eye...	OMIM:167210
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypoplasia, Amelog...	OMIM:245660
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Ulnar deviation of the wrist, Grayish enamel, Carious tee...	OMIM:253010
Ohdo Syndrome	Micrognathia, Sparse eyebrow, Cryptorchidism, Hypoplasia of teeth, Thin vermilion border, Widely ...	OMIM:249620
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Recurrent respiratory infectio...	ORPHA:96263
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, A...	ORPHA:263463
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned ...	ORPHA:3107
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Synophrys, Supernumerary tooth, Widely spaced teeth, Hypodontia, Mic...	ORPHA:90024
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Hyperconvex nail, Large for gestational age, Thick lo...	ORPHA:2563
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Congenital hip dislocation, Redundant neck skin, Thick hair, Redundant skin, Lip...	ORPHA:357074
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Absent nipple, Unilateral cleft palate, ...	ORPHA:1299
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Syndactyly, Frontal balding, Thick lower lip vermilion, Wide mouth, Lon...	ORPHA:1942
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Tibial bowing, Slender long bone, Dentinogenesis imperfecta	OMIM:259420
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia of teeth, N...	OMIM:234050
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Skin vesicle, Hypoplastic f...	ORPHA:257
Weaver Syndrome	Deep-set nails, Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Redundan...	ORPHA:3447
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Progeroid facial appearance, ...	ORPHA:90322
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, Single transverse palmar crease, High, narrow palate, Low anter...	OMIM:601358
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Narrow mouth, Synophrys, Obesity, Narrow palate, Fine hair, Hypopla...	OMIM:620250
Temtamy Syndrome	Dental crowding, Highly arched eyebrow, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short...	OMIM:218340
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Highly arched eyebrow, Short thumb, 2-3...	ORPHA:2712
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Delayed eruption of perma...	OMIM:619269
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger...	OMIM:119600
Aarskog-Scott Syndrome	Delayed eruption of teeth, Short palm, Finger syndactyly, Inguinal hernia, Single transverse palm...	ORPHA:915
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Onychauxis, High palate, Advanced eruption of t...	OMIM:262190
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly a...	OMIM:600325
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, High iliac win...	ORPHA:50814
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Abnormal dental m...	ORPHA:2136
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s...	ORPHA:2457
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Micrognathia, Conical tooth, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Clinodact...	ORPHA:1071
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Scarf Syndrome	Inguinal hernia, Cryptorchidism, Low anterior hairline, Low posterior hairline, Cutis laxa, Short...	OMIM:312830
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Prominent superficial veins, Camptodactyly of finger...	OMIM:612350
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Carious teeth, Synophrys, Clinodactyly of the 5th finger, Malar flattenin...	ORPHA:1390
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Obesity, High palate, Malar...	ORPHA:2180
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Pancreatic steatosis, Cryptorchi...	OMIM:617052
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
X-Linked Hypophosphatemia	Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Sacr...	ORPHA:89936
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Decreased body weight, Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of prima...	OMIM:618342
Osteogenesis Imperfecta, Type Xi	Protrusio acetabuli, Dentinogenesis imperfecta, Coxa vara	OMIM:610968
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Abnormality of the dentition, Low anterior hairline, Low posterior hairlin...	OMIM:615802
Bent Bone Dysplasia Syndrome 1	Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Short cla...	OMIM:614592
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Toe syndactyly, Failure to thrive in infancy, ...	ORPHA:819
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition	ORPHA:3270
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Low anterior hairline, Coxa vara, High palate, Decreased body weight, W...	ORPHA:800
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h...	OMIM:305100
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Fine hair	OMIM:272300
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement of thumb, Proge...	OMIM:620370
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Ectodermal dysplasia, Aplasia of the eccrine sweat glands	OMIM:300291
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Singl...	OMIM:616788
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi...	OMIM:151050
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eyelashes, Generalized h...	ORPHA:1514
Cole-Carpenter Syndrome 2	Microretrognathia, Narrow iliac wing, High palate, Dentinogenesis imperfecta	OMIM:616294
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, Microdontia	OMIM:619718
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dent...	ORPHA:96264
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Elbow disl...	ORPHA:2916
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Crypt...	ORPHA:2063
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Overlapping toe, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, ...	ORPHA:457365
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the mid...	ORPHA:96149
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Cutaneous ...	OMIM:211380
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Single transverse palmar crease, Micrognathia, Sparse ey...	ORPHA:444072
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Genu varum	OMIM:613312
Lowry-Maclean Syndrome	Inguinal hernia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia...	ORPHA:2409
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Scarring, Oral mucosal blisters, Erythema, Atrophic scars, Palmoplantar keratoderma, Sm...	ORPHA:79396
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Distal Duplication 18Q	Abnormal dental morphology, Arachnodactyly, Abnormal hair pattern, Micrognathia, Carious teeth, C...	ORPHA:1716
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Non-midline cleft lip, Split han...	ORPHA:1406
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal fingernail morphology, Carious teeth, Cryptorchidism, Deep philtrum, ...	ORPHA:2701
Tooth Agenesis, Selective, 8	Selective tooth agenesis, Sparse eyebrow, Sparse hair, Microdontia, Dry skin	OMIM:617073
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Single transverse palmar crease, Micrognath...	ORPHA:73272
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Retrognathia, Dry skin, Hyperkeratosis, Hip dysplasia, Enamel hypoplasia, ...	OMIM:614576
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ...	OMIM:600002
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Synophrys, Dental malocclusion	OMIM:615541
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate...	ORPHA:314621
Hypomelanosis Of Ito	Syndactyly, Alopecia, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi...	OMIM:300337
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormal hair pattern, Abno...	ORPHA:1786
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Clinodactyly, Subm...	ORPHA:2804
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Abnormal lung lobatio...	ORPHA:818
Geroderma Osteodysplasticum	Mandibular prognathia, Hyperextensibility of the finger joints, Progeroid facial appearance, Hypo...	OMIM:231070
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Thin upper lip vermilion, Abnormality of the hand, Downturned corners of mouth, Abnormality of th...	ORPHA:521308
Cog5-Cdg	Camptodactyly of finger, Cryptorchidism, Genu valgum, Finger clinodactyly, Abnormality of the fro...	ORPHA:263487
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Widely s...	OMIM:218330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing, Pl...	OMIM:235510
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Cutis marmorata, Wide mouth, Short foot, Median pseudocleft lip...	OMIM:619758
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Abnorm...	ORPHA:2314
Osteogenesis Imperfecta, Type I	Femoral bowing, Hip dysplasia, Finger joint hypermobility, Bruising susceptibility, Dentinogenesi...	OMIM:166200
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi...	ORPHA:137834
Prolidase Deficiency	Recurrent respiratory infections, Arachnodactyly, Abnormal fingernail morphology, Micrognathia, C...	ORPHA:742
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Micrognathia, Abnormality of hair texture, Synophrys, Hypoplastic sweat glands,...	ORPHA:73223
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchid...	ORPHA:1812
Focal Facial Dermal Dysplasia 3, Setleis Type	Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis...	OMIM:227260
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Bilateral cryptorchidism, Carious teeth, Cutaneous photosensitivity, E...	OMIM:616395
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Fused teeth, High palate, Finger ...	ORPHA:93932
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Slow-growing nails, Thin nail, Short nail	OMIM:601319
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate	OMIM:618292
Limb-Mammary Syndrome	Cleft hard palate, Aplasia of the ovary, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly,...	ORPHA:69085
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Dentinogenesis imperfecta, Hip dislocation, Thin long bone diaphyses, Thin metacar...	OMIM:616507
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Absent eyelashes, Cleft lip, ...	ORPHA:2890
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ...	OMIM:224900
Dyskeratosis Congenita	Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Skin vesicle, Sp...	ORPHA:1775
Pycnodysostosis	Ridged nail, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinu...	OMIM:265800
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Thick hair, Large for gestational age, Low anterior hairline, Gingiv...	ORPHA:363705
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Abnormal fingernail morphology, Abnormal dental enamel morpholo...	ORPHA:1334
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Bowing of the legs	OMIM:241510
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, De...	ORPHA:289157
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K...	ORPHA:2614
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Thick eyebrow, Syndactyly, Brachydactyly, Single transverse palmar crea...	OMIM:614701
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Abnormal lung lobation...	OMIM:146510
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Palm...	ORPHA:140936
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to...	ORPHA:783
Blepharocheilodontic Syndrome 2	Conical tooth, Cleft lip, Cutaneous syndactyly, Tooth agenesis, Nail dysplasia, Distichiasis	OMIM:617681
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Sparse scalp hair, Hypoplastic fifth toenail, Decreased response to gr...	OMIM:615866
Mcdonough Syndrome	Mandibular prognathia, Cachexia, Micrognathia, Open bite, Cryptorchidism, Synophrys, Dental maloc...	ORPHA:2471
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te...	OMIM:218400
Xfe Progeroid Syndrome	Prematurely aged appearance, Cachexia, Absence of subcutaneous fat, Dry skin, Corneal scarring, C...	OMIM:610965
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Low anterior hairline, Dental malocclusion, Cone-shaped epi...	OMIM:602849
Osteogenesis Imperfecta, Type X	Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Micromelia, Micrognathia, Rec...	OMIM:613848
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdontia, Arachn...	ORPHA:536467
Sclerosteosis 2	Mandibular prognathia, Nail dysplasia, Cutaneous finger syndactyly, Short finger	OMIM:614305
De Barsy Syndrome	Congenital hip dislocation, Coxa vara, Prominent veins on trunk, High palate, Sparse hair, Emphys...	ORPHA:2962
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Highly arched eyebrow, Micrognathia...	OMIM:259775
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely...	ORPHA:1807
Immunodeficiency 9	Ectodermal dysplasia, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failur...	OMIM:612782
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp...	OMIM:616367
Osteoglosphonic Dysplasia	Inguinal hernia, Rhizomelia, Failure to thrive in infancy, Micrognathia, Cryptorchidism, Tooth ag...	ORPHA:2645
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Natal tooth, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplastic toenails	OMIM:616901
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Laterally curved eye...	OMIM:300166
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Dentinogenesis imperfecta	OMIM:166220
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of teeth, Alopeci...	OMIM:248370
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Cryptorchidism, Obesity, Polydactyly, Brachydactyly	OMIM:615982
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp...	OMIM:206920
3M Syndrome	Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ...	ORPHA:2616
Blepharocheilodontic Syndrome 1	Cleft upper lip, Conical tooth, Clinodactyly, Cutaneous syndactyly, Hypodontia, Small nail, Nail ...	OMIM:119580
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil...	OMIM:617865
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Brachydactyly, Small for gestational age, Selective tooth age...	ORPHA:2959
Hepatoerythropoietic Porphyria	Erythrodontia, Scarring, Scarring alopecia of scalp, Loss of eyelashes, Severe photosensitivity, ...	ORPHA:95159
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Failure to thrive,...	OMIM:616353
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Highly arched eyebrow, Micrognathia, Cryptorchidism, Genu valgum, ...	ORPHA:293967
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Failure to thrive, Congenital hip dislocation, Toe syndactyly, Recurrent respi...	ORPHA:217346
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp...	ORPHA:1858
Wrinkly Skin Syndrome	Congenital hip dislocation, Redundant skin, Neonatal wrinkled skin of hands and feet, Coxa vara, ...	OMIM:278250
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee...	OMIM:305620
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo...	ORPHA:1458
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short distal phalanx of finger	OMIM:155050
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appeara...	OMIM:300953
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor...	ORPHA:950
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Nail dystrophy, Cholelithiasis, Enamel hypoplasia, Alopecia univers...	OMIM:240300
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Trichothiodystrophy	Ridged nail, Brittle hair, Multiple joint contractures, High, narrow palate, Tiger tail banding, ...	ORPHA:33364
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Short palm, Hip contracture, Micrognathia, Hypoplas...	ORPHA:85201
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Prom...	OMIM:305450
Celiac Disease, Susceptibility To, 1	Alopecia, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia, Failure to t...	OMIM:212750
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Facial erythema, Sparse hair, Microdontia, Short phalanx of finger, Genu var...	ORPHA:221008
Cardiospondylocarpofacial Syndrome	Brachydactyly, High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth mal...	ORPHA:3238
Flynn-Aird Syndrome	Carious teeth, Alopecia, Skin ulcer, Cachexia	ORPHA:2047
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Facial erythema, High palate, Sparse hair, Microdontia, Short phalanx of fin...	ORPHA:221016
Trisomy 9P	Brachydactyly, Hypoplastic fingernail, Dental crowding, Hypoplastic toenails, Non-midline cleft l...	ORPHA:236
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ...	OMIM:614753
Fanconi Anemia, Complementation Group S	Macrodontia, Proximal placement of thumb, Low anterior hairline, Dental malocclusion, Narrow pala...	OMIM:617883
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Persistence of primary teeth, Erythema, Recurrent pneumonia, ...	OMIM:147060
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia, D...	ORPHA:261120
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp...	OMIM:225500
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Small for gestational age, Dental malocclusion, Prom...	OMIM:612921
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Slender build, Cryptorchidism, Narrow palate, Short upper lip, Thick vermi...	ORPHA:364028
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:216400
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Barber-Say Syndrome	Delayed eruption of teeth, Redundant skin, Wide mouth, Sparse or absent eyelashes, Breast aplasia...	ORPHA:1231
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Incontinentia Pigmenti	Abnormal hand morphology, Orofacial cleft, Abnormal toenail morphology, Abnormality of the nail, ...	ORPHA:464
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Gardner Syndrome	Neoplasm of the pancreas, Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Odont...	ORPHA:79665
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cryptorchidism,...	OMIM:607812
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal...	ORPHA:1782
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Carious teeth, Preaxial hand polydactyly, Cleft palat...	ORPHA:2316
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormality of the nail, Absent eyebrow, Alopecia, Abnormal...	ORPHA:2273
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ...	OMIM:617088
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,...	OMIM:603543
Immunodeficiency 49	Natal tooth, Micrognathia, Pulmonary artery stenosis, Cutis laxa, Short philtrum, Umbilical herni...	OMIM:617237
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Hypoplasia of the thymus, Genu va...	OMIM:264090
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micro...	OMIM:145420
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, For...	OMIM:251230
Immunodeficiency 10	Nail dysplasia, Amelogenesis imperfecta	OMIM:612783
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Failure to thrive, Inguinal hernia, Sparse eyelashes, Overla...	OMIM:613026
Alg8-Cdg	Small for gestational age, Abnormality of subcutaneous fat tissue, Cutis laxa, Macroglossia, Tali...	ORPHA:79325
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Tibial bowing, Femoral bo...	OMIM:610915
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Single transverse palmar cr...	OMIM:610253
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth,...	OMIM:269300
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture, Hypoplast...	OMIM:263650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal...	ORPHA:364577
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Thin upper lip vermilion, Carious teeth, Obesity, Deep palmar crease, High ...	OMIM:620191
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, White hair, Abnormal finger mor...	ORPHA:896
Fontaine Progeroid Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Synophrys, Low anterior...	OMIM:612289
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Progeroid facial appearance, Lipod...	ORPHA:75496
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, ...	OMIM:601812
Familial Scaphocephaly Syndrome, Mcgillivray Type	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Open bite, High palate	ORPHA:168624
Pierpont Syndrome	Thin upper lip vermilion, Small for gestational age, Cryptorchidism, Short toe, Abnormal subcutan...	ORPHA:487825
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Synophrys, Low anterior hairline, Downturned corners o...	OMIM:300882
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti...	ORPHA:1798
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Hypoplastic fingernail, Tented upper lip vermilion, Single tran...	OMIM:619777
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short palm, Dental crowding, Abnormality of the hand, Micrognathia, Abnormality of the dentition,...	ORPHA:476126
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Clinodactyly...	ORPHA:2750
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, H...	OMIM:614188
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Cleft palate, High palate, Clinodacty...	ORPHA:376
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, 2-3 toe syndactyly, Ectodermal dysplasia, Open mouth,...	OMIM:600906
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contrac...	ORPHA:666
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Redundant skin, Ab...	OMIM:200110
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Prematurely aged ap...	ORPHA:2067
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Micrognathia, Cleft upper lip, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Acrocraniofacial Dysostosis	Abnormal fingernail morphology, Micrognathia, Tapered finger, Coxa valga, Cleft palate, Ulnar dev...	ORPHA:949
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of t...	ORPHA:3152
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Recurrent respiratory infections, Dental crowding, Broad hallux, Pneumonia, Carious ...	ORPHA:353281
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Pilomatrixoma, Supernumerary tooth, Odontoma, Lipoma	ORPHA:247806
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Frontal balding, Micrognathia, Cryptorchidism, Synophrys, High, narrow...	ORPHA:96092
Focal Dermal Hypoplasia	Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Hernia, Abnormality of the nail...	ORPHA:2092
Kabuki Syndrome 2	Natal tooth, Brachydactyly, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusi...	OMIM:300867
Koolen-De Vries Syndrome	Hypopigmentation of hair, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of hair ...	ORPHA:96169
Incontinentia Pigmenti	Ridged nail, Conical tooth, Coarse hair, Oligodontia, Pallor, Sparse hair, Atrophic, patchy alope...	OMIM:308300
Cornelia De Lange Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragmatic hernia, Synophrys...	ORPHA:199
Anti-Glomerular Basement Membrane Disease	Purpura, Persistence of primary teeth	ORPHA:375
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse...	OMIM:600373
Kbg Syndrome	Thin upper lip vermilion, Macrodontia, Single transverse palmar crease, Abnormal hair pattern, Cr...	ORPHA:2332
Wrinkly Skin Syndrome	Congenital hip dislocation, Excessive skin wrinkling on dorsum of hands and fingers, Coxa vara, P...	ORPHA:2834
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Sparse hair, Microdontia, Syndactyl...	OMIM:614091
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Omphalocele, Recu...	ORPHA:2484
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti...	OMIM:614941
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopath...	OMIM:305600
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Kilquist Syndrome	Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth	OMIM:619080
Microcephalic Primordial Dwarfism, Montreal Type	Cryptorchidism, Retrognathia, Premature graying of hair, Alopecia of scalp, Excessive wrinkling o...	OMIM:210700
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p...	ORPHA:2920
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Prematurely aged appearance, Abnormal fingertip morphology, Micrognathia, Abnormal hair...	ORPHA:90154
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Inguinal hernia, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, ...	ORPHA:1252
Chand Syndrome	Curly hair, Short fifth metatarsal, Atelectasis, Cleft palate, Agenesis of permanent teeth, Dry s...	ORPHA:1401
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Abnormal hair pattern, Abnormality of the dentition, Oligodo...	ORPHA:2315
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Micrognathia, Abn...	ORPHA:3082
Ctcf-Related Neurodevelopmental Disorder	Single transverse palmar crease, Synophrys, Short philtrum, Joint contracture of the 5th finger, ...	ORPHA:363611
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia, Long eyelashes, Recurrent lower respiratory...	OMIM:617802
Ramon Syndrome	Delayed eruption of teeth, Angiokeratoma, Gingival fibromatosis, Narrow palate, Telangiectasia, H...	OMIM:266270
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Monosomy 5P	Microretrognathia, Finger syndactyly, Inguinal hernia, Small hand, High palate	ORPHA:281
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Small for gestational age, Sing...	OMIM:123450
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters	ORPHA:79403
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Small for gestational age, Abnormal femoral head morphology, Abno...	ORPHA:1830
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Incomplete ossification of pub...	ORPHA:313855
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Cortical subper...	ORPHA:94089
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Highly arched eyebrow, Cryp...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Highly arched eyebrow, Cryp...	ORPHA:353277
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Short hallux, Supernumerary nipple, Abnormality of t...	ORPHA:3224
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, High, n...	OMIM:180849
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Autosomal Recessive Spastic Paraplegia Type 77	Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retr...	ORPHA:466722
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, Prominence of t...	ORPHA:2215
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Ehlers-Danlos Syndrome, Classic-Like, 2	Redundant skin, Micrognathia, Shoulder dislocation, High palate, Prematurely aged appearance, Poo...	OMIM:618000
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Decreased response to growth...	ORPHA:79444
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced...	ORPHA:2728
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sparse eyelashes, Sandal gap, Abnormal hair pattern, Highly arched eyebrow, Sp...	ORPHA:178303
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Finger syndactyly, Toe sy...	ORPHA:978
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Monosomy 18P	Alopecia, Micrognathia, Carious teeth, Cleft palate, Low posterior hairline, Downturned corners o...	ORPHA:1598
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Polycystic ovaries, Abn...	ORPHA:2348
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, High ...	ORPHA:740
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s...	ORPHA:268261
Congenital Erythropoietic Porphyria	Erythrodontia, Scarring, Increased connective tissue, Scarring alopecia of scalp, Loss of eyelash...	ORPHA:79277
Down Syndrome	Brachydactyly, Sandal gap, Prematurely aged appearance, Protruding tongue, Abnormality of the den...	ORPHA:870
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Accessory oral fre...	ORPHA:434179
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Inguinal hernia, Highly arched eyebrow, Thick lower lip vermilion, Hip...	OMIM:619451
Ane Syndrome	Alopecia, Ulnar deviation of the hand, Multiple joint contractures, Anterior pituitary hypoplasia...	ORPHA:157954
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Bowing of the legs, Femoral ret...	OMIM:610682
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Waardenburg Syndrome, Type 3	Mandibular prognathia, Scapular winging, Camptodactyly of finger, Synophrys, Premature graying of...	OMIM:148820
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Trapezoidal distal f...	OMIM:307800
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Sparse hair, Clinodactyly, Hirsutism	OMIM:618087
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsutism, Cone-shape...	OMIM:309350
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Coffin-Lowry Syndrome	Redundant skin, Hypoplasia of the maxilla, Hyperconvex fingernails, High palate, Widely spaced te...	ORPHA:192
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Sparse scalp hair, Single transverse palmar crease, 2-3 toe syndactyly, Fi...	ORPHA:2324
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Triangular mout...	ORPHA:166024
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Den...	ORPHA:3079
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Abnormal dental enamel morphology, Microgna...	ORPHA:2323
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar...	ORPHA:508488
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, De...	OMIM:614008
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Micrognathia, Sparse eyebrow, Carious teeth, Recurrent bronchopulmonary i...	OMIM:604173
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ...	ORPHA:90153
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Hypoplastic thumbnail, ...	ORPHA:370010
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, Elbow flexion c...	OMIM:272430
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Delayed eruptio...	OMIM:619322
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Hypoplasia of the thymus, Congenital pulmonary air...	OMIM:243150
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Arthrogryposis Multiplex Congenita 5	Inguinal hernia, Rocker bottom foot, Micrognathia, Flexion contracture, Hip dislocation, Elbow fl...	OMIM:618947
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Hiatus hernia, Overweight, Persistence of primary teeth, Recurrent upper respira...	OMIM:619769
Bloom Syndrome	Syndactyly, Small for gestational age, Cryptorchidism, Recurrent upper respiratory tract infectio...	OMIM:210900
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Micrognathia, Protruding tongue, Jaundice, Adducted thumb, Low anterior hairli...	OMIM:608779
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Recu...	ORPHA:61
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, High palate, Sparse hair, Dystrophic fingernails, Abnormal morpholo...	ORPHA:1340
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Abnormal dental morphology, Abnormal dental enamel morphology, A...	ORPHA:85199
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, H...	OMIM:619148
Aquagenic Palmoplantar Keratoderma	Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmonary infections, Excessive s...	ORPHA:498359
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Thick lower lip vermilion, Split hand, Flexion contra...	OMIM:309900
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, High anterior hai...	OMIM:613680
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy,...	ORPHA:280365
Moebius Syndrome	Decreased testicular size, Syndactyly, Brachydactyly, Abnormality of the dentition, Micrognathia,...	OMIM:157900
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cryptorchidism, ...	OMIM:615948
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Alopecia totalis, Micrognathia, Aplasia/Hypo...	ORPHA:1234
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip morphology,...	ORPHA:79404
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Aplastic clavicle, Carious teeth, ...	ORPHA:2769
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial bowing...	OMIM:608940
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Redu...	ORPHA:920
Sotos Syndrome	Mandibular prognathia, Sparse eyebrow, Cryptorchidism, High, narrow palate, Long metacarpals, Nar...	OMIM:117550
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Tented upper lip vermilion, Brachydactyly, Rocker bottom foot, Proxi...	OMIM:619762
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Enlarged ovaries, Dental crowding, Th...	ORPHA:769
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger	ORPHA:2760
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Abnormality of the dentition, Pituitary adenoma, Supernumerary tooth, ...	ORPHA:733
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long ...	ORPHA:93346
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:133540
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize...	ORPHA:3322
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Fine hair, Cut...	OMIM:614800
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Dia...	OMIM:259710
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Atelis Syndrome 1	Carious teeth, Bronchiectasis, High palate, Long philtrum, Dry skin	OMIM:620184
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Dry hair, Abnormal dental morphology, Delayed eruption of pr...	ORPHA:191
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis...	OMIM:305400
Osteoglophonic Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic toenails, Short metatarsal, Eruptio...	OMIM:166250
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Redundant skin, High, narrow palate, Abnormal finger morphology, Symphalan...	ORPHA:2658
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Prematurely aged appearance, Pulmonary artery ste...	ORPHA:902
Adult Syndrome	Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Toe syndactyly, S...	OMIM:103285
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Hyperkeratosis, Long ey...	ORPHA:79430
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, High anterior h...	OMIM:182250
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr...	ORPHA:193
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,...	OMIM:135500
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous...	ORPHA:93322
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar...	OMIM:122470
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Lipodystrophy, Progeroid facial appearance, Micrognathia, Congenital ...	ORPHA:435628
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Decreased response to growth...	ORPHA:79443
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Redundant skin...	OMIM:612940
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Macroorchidism, Congenital diaphragmatic hernia, Tapered finger, Recurrent...	ORPHA:284180
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Widely spaced teeth, Clinodactyly, Retrognathia	OMIM:619092
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic sinusitis, Bronchiectasis	OMIM:253240
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Carious teeth, Pterygium of nails, Palmoplantar hyperkeratos...	OMIM:224230
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Abnormality of the hand, Cryptorchidism, Clinodactyly, Low ant...	ORPHA:369891
Kindler Epidermolysis Bullosa	Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact...	ORPHA:2908
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t...	ORPHA:861
Knobloch Syndrome 2	Recurrent respiratory infections, Enamel hypoplasia, Abnormal pulmonary interstitial morphology, ...	OMIM:618458
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Dental crowding, Arachnodactyly, Sandal gap, Cutis marmorata, Cari...	OMIM:617602
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Low anterior hairline, Dislocated radial head, Syndactyly, Cle...	OMIM:605039
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Inguinal hernia, Cryptorchidism, Flexion contracture, Hip dislocatio...	OMIM:614438
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Genu valgum, Abnormal epip...	ORPHA:53
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Sparse eyelashes, Rocker bottom foot, Micrognathia, Sparse eyebrow, Carious teeth, Tapered finger...	OMIM:620070
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Small for gest...	OMIM:101800
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Deep philtrum, Wide mo...	ORPHA:1825
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh...	ORPHA:3455
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib...	OMIM:268305
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Abnormal metaphysea...	OMIM:224300
Camptosynpolydactyly, Complex	Syndactyly, Cutaneous syndactyly, Polydactyly, Nail dysplasia, Camptodactyly, Small nail, Toenail...	OMIM:607539
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Open mouth, Fused teeth, High palate, Short philt...	OMIM:300896
20P13 Microdeletion Syndrome	Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Failure to thrive in inf...	ORPHA:313781
Gapo Syndrome	Prominent scalp veins, Alopecia, Sparse eyelashes, Redundant skin, Micrognathia, Sparse eyebrow, ...	OMIM:230740
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Woods Syndrome	Single transverse palmar crease, Supernumerary nipple, 3-4 finger cutaneous syndactyly, Broad nai...	OMIM:615236
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Tooth agen...	OMIM:605676
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat...	OMIM:616300
Pallister-Hall Syndrome	Large for gestational age, Gonadotropin deficiency, Abnormal lung lobation, Bifid uvula, Microret...	ORPHA:672
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon...	OMIM:269500
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Coxa valga, Av...	ORPHA:1901
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Syndactyly, Narrow mouth, Pulmonary lymphangiectasia, Camptodactyly	OMIM:616006
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Pulmonary lymphangiomyomatosis, Adenoma sebaceum, Prea...	OMIM:191100
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Single transverse palmar crease...	OMIM:308050
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Congenital hip dislocation, Thick hair, Progeroid facial appearance, Excessive w...	ORPHA:357058
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the...	ORPHA:2994
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Small for gestational age, Elbow contracture, Small hand, ...	OMIM:616489
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Hypodontia...	OMIM:620192
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Tented upper ...	ORPHA:261494
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Mandibular prognathia, Synophrys, Thick lower lip vermilion, Cutaneous finger syndactyly, Thick e...	OMIM:210745
Coffin-Siris Syndrome	Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Cryptorchi...	ORPHA:1465
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Microphthalmia, Lenz Type	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger...	ORPHA:568
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Jaundice, Failure to thrive	OMIM:612714
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Abnormal finger morphology, D...	ORPHA:79500
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, High i...	ORPHA:2780
Adnp Syndrome	Single transverse palmar crease, Abnormal finger morphology, Advanced eruption of teeth, Abnormal...	ORPHA:404448
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Epiphyseal dysplasia, Inguinal hernia, Pneumonia, Carious teeth, Metap...	OMIM:253200
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr...	OMIM:617201
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth, Spar...	OMIM:280000
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Sparse scalp hair, Syndactyly, Brachydactyly, Small for gestational age, Proxi...	OMIM:615789
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth	OMIM:146300
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Progeroid facial appearance, Patchy alopecia, Broad distal phalanx of f...	OMIM:617763
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspi...	OMIM:300484
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Absent eyelashes...	OMIM:106260
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Inguinal hernia, Omphaloc...	OMIM:247200
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Abnormality of the dentition, Synophrys, Small hand, Downturned corne...	ORPHA:238750
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Narrow palate, Low posterior hairline, ...	ORPHA:1323
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Micrognathia, Cryptorchidis...	ORPHA:1300
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Sparse eyebrow, Cryptorchidism, Short palm, Re...	ORPHA:73246
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary...	ORPHA:363444
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met...	ORPHA:1540
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Pneumonia, Hypocalcification of dental enamel	ORPHA:169090
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Widow's...	OMIM:227330
Familial Multiple Lipomatosis	Odontogenic keratocysts of the jaw, Bowing of the long bones, Lipodystrophy, Increased adipose ti...	ORPHA:199276
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Large for gestational age, Tapered finger, Abnormality of the denti...	ORPHA:261652
White Forelock With Malformations	Finger syndactyly, Deep philtrum, White forelock, Clinodactyly of the 5th finger, Abnormal palate...	ORPHA:2475
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Short fourth metatarsal, Short fifth metatarsal, Clinodactyly of the 5th toe, 2-3 toe s...	OMIM:261990
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Recurrent respiratory infections, Micrognathia, Deep philtrum, Dental m...	ORPHA:329178
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Micrognathia, Supernumerary tooth, Bile duct proliferation, Prolonged neonatal j...	OMIM:619525
Pitt-Hopkins Syndrome	Single transverse palmar crease, Supernumerary nipple, Tapered finger, Hiatus hernia, Cryptorchid...	ORPHA:2896
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Aplasia/Hypoplasia of the ...	ORPHA:2145
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Syndactyly, Abnormality of the dentition, Cryptorchidism, Broad palm, Wide...	OMIM:618505
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Patellar apla...	OMIM:613804
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon...	OMIM:619503
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Finger syndactyly, Branchial cyst, Dental crowdi...	ORPHA:435938
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Broad hallux, S...	OMIM:600987
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Micrognathia, Apla...	ORPHA:2839
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Synophrys, Metaphyseal widening, Short phalanx ...	OMIM:615777
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal dental morphology, Micrognathia, High, nar...	ORPHA:369950
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Downturned corners of mouth, Short palm, S...	OMIM:176270
Gorlin Syndrome	Mandibular prognathia, Arachnodactyly, Carious teeth, Cryptorchidism, Palmar pits, Brachydactyly	ORPHA:377
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Chronic sinusitis, Bronchiectasis	OMIM:615294
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Carious teeth, Nail pits, Premature graying of hair, Interstitial pneumoni...	OMIM:127550
Kenny-Caffey Syndrome, Type 1	Carious teeth, Small hand, Short foot, Slender long bone, Short palm, Congenital hypoparathyroidi...	OMIM:244460
Squalene Synthase Deficiency	Failure to thrive in infancy, Micrognathia, Bilateral cryptorchidism, Elbow flexion contracture, ...	OMIM:618156
Dermatoleukodystrophy	Premature skin wrinkling, Large hands, Progeroid facial appearance	OMIM:221790
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Downturned corners of mouth, Pulmonary artery atresia, Short phalanx of finger, Syn...	OMIM:616894
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of...	ORPHA:710
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Short palm, Hamartoma of tongue, Atelectasis, Short toe, Bo...	OMIM:269860
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Congenital hip dislocation, Dental crowdin...	ORPHA:96170
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Abnormality of the dentition, Emphysema, ...	ORPHA:436
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Decreased response to growth hormone stimulation test, Mic...	OMIM:180860
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Small nail, Camptodactyly, Malar flattening, Joint contracture...	OMIM:608257
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Femoral bowing	OMIM:126550
Larsen-Like Syndrome	Dental malocclusion, Cleft palate, Radial deviation of the 4th finger, Talipes equinovarus, Clino...	OMIM:608545
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Persistence of primary teeth, Cryptor...	ORPHA:97360
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Inguinal hernia, Small for gestational age, Micrognathia, Cryptorchidism, Cleft palat...	ORPHA:397590
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan...	DECIPHER:46
Endocrine-Cerebroosteodysplasia	Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Single trans...	OMIM:612651
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Highly arched eyebrow, Cryptorchidism, Widow's peak, Short toe, O...	ORPHA:1519
Cockayne Syndrome Type 3	Dry hair, Carious teeth, Flexion contracture, Premature graying of hair, Enamel hypoplasia, Cutan...	ORPHA:90324
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Short nail, Micromelia, Deep philtrum, Deep palm...	ORPHA:1675
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower...	OMIM:620321
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Premature ...	ORPHA:667
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tong...	ORPHA:570
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity	ORPHA:251004
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crease, High...	OMIM:272950
Acrofrontofacionasal Dysostosis 2	Syndactyly, Redundant neck skin, Broad hallux, Widow's peak, Hand polydactyly, High palate, Broad...	OMIM:239710
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf...	ORPHA:508542
2Q31.1 Microdeletion Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Deep philtrum, Low anterior hairline, Abnormal tib...	ORPHA:251014
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Ogden Syndrome	Congenital hip dislocation, Redundant neck skin, Redundant skin, Micrognathia, Deep philtrum, Sho...	OMIM:300855
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn...	OMIM:619950
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d...	ORPHA:521445
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Crypto...	ORPHA:2256
Dubowitz Syndrome	Delayed eruption of teeth, Sparse scalp hair, Syndactyly, Inguinal hernia, Single transverse palm...	OMIM:223370
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cryptorchidism, Synophrys, Cleft lip, Dental maloccl...	OMIM:603457
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Single transverse palmar crease, Micrognat...	ORPHA:2437
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Single transverse palmar crease, 2-3 toe syndactyly, Cuta...	OMIM:236500
Emanuel Syndrome	Broad jaw, Recurrent respiratory infections, Inguinal hernia, Congenital hip dislocation, Dental ...	OMIM:609029
6P22 Microdeletion Syndrome	Finger syndactyly, Redundant skin, Hernia, Clinodactyly, Abnormal palate morphology	ORPHA:251046
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Breast a...	ORPHA:2036
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Cryptorc...	OMIM:616331
Harrod Syndrome	Arachnodactyly, Cryptorchidism, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvi...	ORPHA:2115
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Single transverse palmar crease, Micrognathia, Hypo...	OMIM:261540
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Thin upper lip vermilion, Omphalocele, Recurrent respiratory infections, Exaggerated cu...	OMIM:618316
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ...	OMIM:300990
Noonan Syndrome 4	Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Wide ...	OMIM:610733
Ritscher-Schinzel Syndrome 1	Syndactyly, Decreased response to growth hormone stimulation test, Micrognathia, Cleft palate, Lo...	OMIM:220210
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Redundant neck skin, Overlapping toe, Gingival overgrowth, Narrow palate, High palat...	OMIM:123790
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Sparse hair, Microdont...	ORPHA:251028
Geroderma Osteodysplastica	Mandibular prognathia, Prematurely aged appearance, Redundant skin, Hip dislocation, Abnormal epi...	ORPHA:2078
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Intermediate Osteopetrosis	Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Osteosclerosis of ...	ORPHA:210110
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Toe clinodactyly, Sandal gap, Cryptorchidism, Synophrys, Obesity, ...	ORPHA:254346
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Cleft ...	OMIM:617925
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Abnormal hair pattern, Down...	ORPHA:85293
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protrudin...	ORPHA:50945
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Cryptorchi...	OMIM:300963
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Cleft upper...	OMIM:263750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Cutis marmorata, Polydactyly, Hernia, Smooth philtrum	OMIM:602501
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Widely spaced teeth, Micro...	OMIM:143095
Lipodystrophy, Familial Partial, Type 7	Reduced subcutaneous adipose tissue, Sparse scalp hair, Loss of subcutaneous adipose tissue in li...	OMIM:606721
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Spa...	OMIM:616268
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Aplastic/hypoplastic...	ORPHA:3255
Hereditary Acrokeratotic Poikiloderma	Gingivitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, Finger syndactyly, Open bite, Sk...	ORPHA:2907
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Distal Duplication 5Q	Hypoplasia of the ulna, Brachydactyly, Micrognathia, Carious teeth, Cryptorchidism, Absent thumb,...	ORPHA:96097
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Failure to thrive in infancy,...	OMIM:618975
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Gingivitis, Patellar hypoplasia...	ORPHA:477
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Small for gestational age, Delayed eruption of primary teeth, Thin nail, Widely ...	OMIM:617799
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Failure to thrive, Highly arched eyebrow, Micrognathia, Bilate...	ORPHA:2754
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Decreased response to growth hormone stimulatio...	ORPHA:1855
17Q12 Microduplication Syndrome	Finger syndactyly, Synophrys, Toe syndactyly, Cleft palate	ORPHA:261272
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Abnormality of the dentition, Erythema, Dental malocc...	ORPHA:90289
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Camptodactyly of finger, Wrist swelling, Cryptorchidism, Hip dislocation, Corn...	OMIM:309000
Kbg Syndrome	Short palm, Syndactyly, Tented upper lip vermilion, Macrodontia, Single transverse palmar crease,...	OMIM:148050
Ring Chromosome 12 Syndrome	Syndactyly, Small for gestational age, Cryptorchidism, High, narrow palate, Abnormal 5th finger m...	ORPHA:1439
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar...	OMIM:618150
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Open...	ORPHA:1974
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Large for gestati...	ORPHA:77301
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Aplasia/Hypoplasia of the tongu...	ORPHA:989
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:615546
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Trisomy 20P	Micrognathia, Low anterior hairline, Downturned corners of mouth, Coarse hair, Short philtrum, He...	ORPHA:261318
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Alveolar ...	OMIM:301072
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling, Failure to thrive	OMIM:617950
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ...	ORPHA:464738
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Carious teeth, Flexion contracture, Skin ulcer, Narrow foramen obtura...	ORPHA:220393
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal fingernail mo...	ORPHA:1908
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Bifid uvula, Hypoplasia o...	OMIM:218600
Restrictive Dermopathy 1	Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,...	OMIM:275210
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Limited elbow movement, Micrognathia, Proximal placement of thum...	OMIM:610759
2Q37 Microdeletion Syndrome	Sparse scalp hair, Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Supernumer...	ORPHA:1001
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Tarp Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Cryptorchidism, C...	ORPHA:2886
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid...	ORPHA:93357
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Atypical Werner Syndrome	Micrognathia, Abnormal hair whorl, Premature graying of hair, Finger clinodactyly, Short palm, Ab...	ORPHA:79474
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim...	ORPHA:93325
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Curly eyelashes, Short hallux, Coxa valga, Low anterior ...	ORPHA:1517
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Long palm, Single transverse palmar crease,...	OMIM:244450
Larsen Syndrome	Finger syndactyly, Brachydactyly, Short nail, Cryptorchidism, Accessory carpal bones, Cleft palat...	ORPHA:503
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Spars...	OMIM:620186
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Carious teeth, Flared metaphysis, Coxa vara, Failure to thrive, Calvarial osteosc...	OMIM:259700
Bardet-Biedl Syndrome 1	Syndactyly, Dental crowding, Postaxial polydactyly, High, narrow palate, Postaxial hand polydacty...	OMIM:209900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Faciocardiomelic Syndrome	Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender long bone, Poly...	OMIM:612731
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Carious teeth, Diaphyseal sclerosis, ...	OMIM:131300
Myoectodermal Gonadal Dysgenesis Syndrome	Single transverse palmar crease, Cutaneous finger syndactyly, Scaling skin, Short palm, Elevated ...	OMIM:618419
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Elastoderma	Premature skin wrinkling, Cutis laxa	ORPHA:228240
Proteus Syndrome	Abnormal finger morphology, Abnormal lung lobation, Clinodactyly of the 5th finger, Abnormality o...	ORPHA:744
Ataxia-Telangiectasia	Recurrent respiratory infections, Hypopigmentation of hair, Prematurely aged appearance, Telangie...	ORPHA:100
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Abnormal hair p...	ORPHA:794
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease...	ORPHA:3472
Myotubular Myopathy With Abnormal Genital Development	Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, High palate, Retrognathia	OMIM:300219
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Advanced eruption of teeth, Arachnodactyly...	ORPHA:828
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Ramos-Arroyo Syndrome	Sparse scalp hair, Carious teeth, Smooth tongue, Narrow mouth, Severe failure to thrive, High ant...	ORPHA:1051
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Conical tooth, Promin...	OMIM:135900
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture, Cutaneous finge...	OMIM:224690
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Albinism, Carious teeth, Recurrent pneumonia, Periodontitis, Pulmonary ...	OMIM:608233
Mosaic Trisomy 1	Single transverse palmar crease, Hypoplastic thumbnail, Congenital diaphragmatic hernia, Orofacia...	ORPHA:1692
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Synophrys, Clubbing, C...	ORPHA:96123
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Orofaciodigital Syndrome Iv	Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Micrognathia, Postaxial polydactyly...	OMIM:258860
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin, Micrognathia, Abnormality of the dentition, Cryptorchidism, Thick low...	ORPHA:85321
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Congenit...	ORPHA:1647
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn...	OMIM:154400
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi...	ORPHA:177907
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Bilateral cryptorchidism, L...	OMIM:617746
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Sparse scalp hair, Finger syndactyly, Cleft palate	ORPHA:66629
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Obesity, Brachydactyly	OMIM:615983
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Restrictive Dermopathy	Natal tooth, Multiple joint contractures, Short nail, Camptodactyly of finger, Micrognathia, Spar...	ORPHA:1662
Craniofrontonasal Syndrome	Ridged nail, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Split nail, Broad h...	OMIM:304110
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Narrow mouth, Flexion contracture, Atypical scarring of skin, Anonychia, Absent to...	ORPHA:89842
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Neurocardiofaciodigital Syndrome	Syndactyly, Failure to thrive, Small for gestational age, Sparse eyebrow, Thin vermilion border, ...	OMIM:619869
Kindler Syndrome	Ridged nail, Telangiectasia of the skin, Carious teeth, Fragile skin, Gingivitis, Palmoplantar hy...	OMIM:173650
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Small for gestational age, Progeroid facial appearance, Generalized lipo...	ORPHA:50811
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Single transverse ...	OMIM:619841
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Dental crowding, Protrusio acetabuli...	OMIM:225400
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Failure to thrive, Thyroid C cell hyperplasia	OMIM:300952
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, S...	ORPHA:1433
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Synophrys, High palate, Premature loss of teeth, Dislocated...	OMIM:102500
Cutis Laxa, Autosomal Dominant 3	Adducted thumb, Hip dislocation, Cutis laxa, Talipes equinovarus, Hernia, Premature skin wrinklin...	OMIM:616603
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Cryptorch...	ORPHA:2879
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Say-Barber-Miller Syndrome	Abnormality of the hairline, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Cryptorchidism,...	ORPHA:3132
Timothy Syndrome	Thin upper lip vermilion, Pneumonia, Bronchitis, Cutaneous syndactyly, Microdontia	OMIM:601005
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short philtrum, Spar...	OMIM:619127
Transaldolase Deficiency	Premature skin wrinkling, Telangiectasia	ORPHA:101028
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Congenit...	OMIM:601803
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Emphysema, Premature graying of hair, Sparse hair,...	ORPHA:363618
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Inguinal hernia, Sandal gap, Single transverse palmar crease...	OMIM:613177
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, D...	OMIM:150230
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A...	OMIM:616914
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue...	ORPHA:958
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Decreased response to growth hormo...	ORPHA:96182
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Sparse scalp hair, Thin upper lip vermilion, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion ...	OMIM:620029
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Micrognathia, Carious teeth, Cryptorchidism, Synophrys, Tap...	OMIM:616734
Martin-Probst Syndrome	Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Telangiectasia, Wid...	OMIM:300519
Lead Poisoning	Delayed eruption of teeth, Small for gestational age	ORPHA:330015
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Wide mouth, Hand ...	ORPHA:60040
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive in infancy, Microgna...	ORPHA:1225
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Redundant neck skin, Proximal placement of thumb, Micrognathia, Cryptorchidism, Pierr...	OMIM:217980
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Shwachman-Diamond Syndrome	Delayed eruption of teeth, Failure to thrive, Sinusitis, Decreased response to growth hormone sti...	ORPHA:811
Acquired Partial Lipodystrophy	Lipoatrophy, Generalized hirsutism, Progeroid facial appearance	ORPHA:79087
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Streak ovar...	ORPHA:798
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal sacroiliac joint morphology, Enlargement of the wrists, Coxa ...	ORPHA:289176
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r...	OMIM:617895
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption o...	ORPHA:2250
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Chronic sinusitis, Bronchiectasis	ORPHA:922
Campomelia, Cumming Type	Bowing of the long bones, Prematurely aged appearance, Micromelia, Pancreatic cysts, Cleft palate...	ORPHA:1318
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Low anterior hair...	OMIM:614976
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Microgn...	OMIM:619879
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Cutaneous syndactyly, Pleural effusion, High palate, Talipes equin...	OMIM:617822
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:601390
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodac...	ORPHA:3310
Crane-Heise Syndrome	Finger syndactyly, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Micrognathia, Cryptor...	ORPHA:1512
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Dental crowding, Broad hallux, Sandal gap, Cryptorchidism, Synophrys, O...	OMIM:616078
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Redundant skin, High, narrow palate, Abnormality of the gingiva, Ging...	ORPHA:286
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Large for gestational age, High palate, Small nail, Umbilical hernia, Failure to thrive	OMIM:614520
Tarp Syndrome	Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial p...	OMIM:311900
Alström Syndrome	Abnormality of dental color, Dorsocervical fat pad, Decreased response to growth hormone stimulat...	ORPHA:64
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Progeroid facial appearance, Micrognathia, Congenital diaphragma...	OMIM:208050
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Sparse axillary hair, Sparse pubic hair, 3-4 finger cut...	OMIM:181270
Cranioectodermal Dysplasia 2	Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Widely spaced teeth, Sparse hair, M...	OMIM:613610
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Enlarged ovaries, Inguinal hernia, Congenital diaphragmatic hernia, Mic...	ORPHA:2745
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Congenital hip dislocation, Microg...	OMIM:606170
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Micrognathia, Cryptorchidism, Abnorm...	ORPHA:2990
Loeys-Dietz Syndrome 4	Striae distensae, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, High, narrow palate, Emph...	OMIM:614816
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Long palm, Rocker bottom foot, Coxa valga, Avascular necrosis of...	ORPHA:3342
Diamond-Blackfan Anemia 11	Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas...	OMIM:614900
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Triploidy	Omphalocele, Finger syndactyly, Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate...	ORPHA:3376
Campomelic Dysplasia	Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel...	OMIM:114290
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93259
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Exaggerated cupid's bow, Camptodactyly of finger, Micrognathia, Abnormality of...	ORPHA:284160
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Incisional hernia, Shoulder dislocation, Ecchymosis, ...	ORPHA:287
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Cryptorchidism, Cleft palate...	OMIM:614230
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Short lingual frenulum, Abnormal fingernail morphology, Supernumerary nipple, Sparse ...	ORPHA:1521
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Hiatus hernia, Abnormality of the humerus, ...	ORPHA:2538
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Redundant skin, Micromelia, Hypoplastic ilia, Abnormal sac...	ORPHA:1860
3C Syndrome	Finger syndactyly, Hypoplastic fingernail, Inguinal hernia, Recurrent respiratory infections, Mic...	ORPHA:7
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
X Small Rings	Thin upper lip vermilion, Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergro...	ORPHA:96201
Scleromyxedema	Aged leonine appearance, Abnormality of the hand, Abnormal lung morphology, Abnormal pulmonary ar...	ORPHA:167635
Microphthalmia With Linear Skin Defects Syndrome	Failure to thrive, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognath...	ORPHA:2556
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, Hypoplastic toenails, High, narrow pal...	ORPHA:2753
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot olig...	OMIM:601357
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor w...	OMIM:123700
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Proximal placement of thumb, Cryptorchidism, Postaxial foot polydactyly, High ...	ORPHA:139471
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ...	ORPHA:244
Pseudoxanthoma Elasticum	Telangiectasia of the skin, Lack of skin elasticity, Excessive wrinkled skin, Multiple lipomas, H...	ORPHA:758
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Narrow mouth, Complete duplication of thumb ph...	ORPHA:59315
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal lung lobation, Hypoplasia of the thymus, Short philtrum, Hypoparathyroidis...	ORPHA:567
Curry-Jones Syndrome	Duplication of thumb phalanx, Lip pit, Preaxial hand polydactyly, 2-3 finger syndactyly, Triphala...	OMIM:601707
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Clinodactyly...	ORPHA:1708
Meckel Syndrome, Type 1	Micrognathia, Lobulated tongue, Syndactyly, Cleft upper lip, Cryptorchidism, Postaxial foot polyd...	OMIM:249000
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Facial erythema	OMIM:618307
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micrognathia, Cleft palate, High palate	OMIM:616038
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Lack of facial subcutaneous fat, Progeroid facial appearance, Microgn...	OMIM:614098
Cerebrofacioarticular Syndrome	Irregular dentition, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Talipes equinovarus, Na...	ORPHA:314679
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Cleft upper lip, Crypt...	ORPHA:2008
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Floating-Harbor Syndrome	Short metacarpal, Brachydactyly, Small for gestational age, Persistence of primary teeth, Hypopla...	ORPHA:2044
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Aspiration pneumonia, Long philtrum, Failure to thrive, Smooth philtrum	OMIM:616430
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Umbilical hernia, High palate, Cubitus valgus	OMIM:104350
Noonan Syndrome 1	Failure to thrive in infancy, Micrognathia, Cubitus valgus, Cryptorchidism, High, narrow palate, ...	OMIM:163950
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Periodontitis, Finger joint hypermobility, Ecchymosis, Emphyse...	OMIM:130050
Autosomal Dominant Cutis Laxa	Dermal translucency, Inguinal hernia, Redundant neck skin, Prematurely aged appearance, Redundant...	ORPHA:90348
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth h...	ORPHA:1263
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Lacrimal gland hypoplasia, Lacrimal gland aplasia	OMIM:180920
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thic...	ORPHA:2785
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Proteasome-Associated Autoinflammatory Syndrome 1	Adipose tissue loss, Flexion contracture, Premature graying of hair, Loss of facial adipose tissu...	OMIM:256040
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Primary Hyperoxaluria	Failure to thrive, Cutis marmorata, Abnormality of the dentition, Rootless teeth, Abnormal dental...	ORPHA:416
Meier-Gorlin Syndrome 6	Microretrognathia, Recurrent respiratory infections, Sandal gap, Decreased response to growth hor...	OMIM:616835
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Carpenter Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Obesit...	ORPHA:65759
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Carious teeth, Cryptorchidism, Pterygium of ...	OMIM:305000
Nevus Comedonicus Syndrome	Abnormal hair morphology, Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Yunis-Varon Syndrome	Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Micrognathia, S...	OMIM:216340
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Micrognathia, Oro...	ORPHA:1556
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Increased connective tissue, Atele...	ORPHA:258
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia...	ORPHA:380
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomeli...	OMIM:276820
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Oral ulcer, Gingivitis, Polycystic ovaries, Delayed eruption of permanent teeth, P...	ORPHA:79259
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syn...	OMIM:217085
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Fraser Syndrome	Omphalocele, Finger syndactyly, Toe syndactyly, Dental crowding, Abnormal hair pattern, Cleft upp...	ORPHA:2052
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragm...	OMIM:200980
Cree Mental Retardation Syndrome	Rocker bottom foot, Cleft soft palate, Micrognathia, Cryptorchidism, Cutaneous finger syndactyly	OMIM:606851
Adams-Oliver Syndrome	Finger syndactyly, Alopecia, Brachydactyly, Cutis marmorata, Hypoplastic fingernail, Absent toe, ...	ORPHA:974
Cerebrocostomandibular Syndrome	Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic...	OMIM:117650
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the...	ORPHA:3210
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Summitt Syndrome	Syndactyly, Obesity	OMIM:272350
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finge...	OMIM:119500
Neonatal Marfan Syndrome	Long toe, Arachnodactyly, Small for gestational age, Lipoatrophy, Micrognathia, High, narrow pala...	ORPHA:284979
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phoco...	OMIM:274000
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Anterior pituitary hypoplasia, Micrognathia, Cryptorchidism, D...	ORPHA:264200
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Hypopituitarism, Cleft upper lip, Cryptorchidism, ...	OMIM:603671
Charge Syndrome	Delayed eruption of teeth, Highly arched eyebrow, Cleft upper lip, Abnormal soft palate morpholog...	ORPHA:138
Ciliary Dyskinesia, Primary, 1	Pneumonia, Absent frontal sinuses, Atelectasis, Bronchiectasis, Chronic sinusitis, Recurrent bron...	OMIM:244400
Proximal Renal Tubular Acidosis	Failure to thrive, Enamel hypomineralization	ORPHA:47159
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Smooth philtrum, Syndactyly, Micrognathia, Cryptorchidism, Widow's peak, Cleft lip, Furrowed tong...	OMIM:616975
Johanson-Blizzard Syndrome	Sparse scalp hair, Failure to thrive, Small for gestational age, Single transverse palmar crease,...	OMIM:243800
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ...	ORPHA:373
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger	OMIM:618725
Aspartylglucosaminuria	Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Abnormal morphology of ...	ORPHA:93
Degcags Syndrome	Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, High palate, Pallor, S...	OMIM:619488
Fraser Syndrome 3	Short toe, Abnormal lung lobation, Cutaneous syndactyly, Micrognathia	OMIM:617667
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent u...	ORPHA:51636
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cry...	ORPHA:2311
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Bowing of the legs, Aplasia/Hypoplasia of the patella, Cryptorchidism, Pre...	OMIM:617063
Cerebrotendinous Xanthomatosis	Prematurely aged appearance, Abnormality of the hand, Abnormal tibia morphology, Abnormality of t...	ORPHA:909
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93260
Mowat-Wilson Syndrome	Delayed eruption of teeth, Pulmonary artery sling, Supernumerary nipple, Cryptorchidism, Pulmonar...	OMIM:235730
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Atelectasis, Bronchiectasis, Abnormal pulmonary interstitial morphology...	OMIM:620233
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Sparse hair, Phocomelia, Wr...	OMIM:268300
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Williams Syndrome	Redundant skin, Micrognathia, Hypoplastic toenails, Microdontia, Clinodactyly of the 5th finger, ...	ORPHA:904
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Swollen lip, Absent eyelashes,...	OMIM:256520
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Abnormal lung lobation, Narrow greater sc...	OMIM:312870
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, 2-3 finger syndactyly, Hamartoma of tongue	ORPHA:1338
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Arachnodactyly, Progeroid facial appearance, Adducted thumb	ORPHA:412057
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Fraser Syndrome 1	Absent eyebrow, Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Absent eyelash...	OMIM:219000
Sotos Syndrome	No permanent dentition, Flexion contracture, Flushing, Cryptorchidism, 2-3 toe syndactyly, Large ...	ORPHA:821
Netherton Syndrome	Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Sparse eyebrow, Abnormal h...	ORPHA:634
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly, Flexion contracture	OMIM:619091
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Micrognathia, Cryptorchidism, 2-3 toe syndactyly, Aortopulmonary window, Pulmo...	OMIM:620025
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Prominence of the premaxilla, Inguinal hernia, Arachnodactyly, Conge...	OMIM:614437
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, 2-3 toe syndactyly, Long eyelashes, Long philtrum, 3-4 finger syndactyly	OMIM:615877
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi...	ORPHA:254361
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad...	ORPHA:1553
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261537
Marfan Syndrome	Pulmonary artery dilatation, Inguinal hernia, Dental crowding, Arachnodactyly, Limited elbow move...	ORPHA:558
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Coffin-Siris Syndrome 12	Sparse scalp hair, Highly arched eyebrow, Micrognathia, Hip subluxation, Cryptorchidism, Synophry...	OMIM:619325
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, P...	ORPHA:2473
Loeys-Dietz Syndrome 2	Syndactyly, Dermal translucency, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial ...	OMIM:610168
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Pulmonary hypoplasia, C...	OMIM:601163
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Cryptorchidism, Obesity, Hand poly...	ORPHA:2377
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cleft upper...	OMIM:309800
Relapsing Polychondritis	Alopecia, Atelectasis, Erythema, Recurrent aphthous stomatitis, Purpura	ORPHA:728
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Cryptorchidism, Non-midline clef...	ORPHA:887
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl...	OMIM:615986
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Bronchopulmonary Dysplasia	Small for gestational age, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema	ORPHA:70589
Asbestos Intoxication	Cyanosis, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Clubbing o...	ORPHA:2302
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Clinodactyly, Cutaneous photosensitivity	ORPHA:1445
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:2152
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,...	ORPHA:1587
Constricting Bands, Congenital	Omphalocele, Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyly,...	OMIM:217100
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin, Upper limb asymmetry, Ovarian neoplasm	ORPHA:137608
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Toe clinodactyly, Inguinal hernia, Recur...	ORPHA:2308
Fraser Syndrome 2	Hypoplasia of the thymus, Low anterior hairline, Cutaneous syndactyly, Narrow mouth	OMIM:617666
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Skin ulcer	ORPHA:1114
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Long philtrum, Abnormal toena...	ORPHA:2211
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Jaundice, Pallor, Small nail	OMIM:615631
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Marfan Syndrome	Reduced subcutaneous adipose tissue, Pulmonary artery dilatation, Dental crowding, Arachnodactyly...	OMIM:154700
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Hartsfield Syndrome	Syndactyly, Median cleft lip, Cleft upper lip, Cryptorchidism, Gonadotropin deficiency, Cleft pal...	OMIM:615465
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont...	ORPHA:261552
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Abnormal fingernail morpholog...	ORPHA:1319
Adams-Oliver Syndrome 6	Syndactyly, Cutis marmorata, Hypoplastic toenails, Foot oligodactyly, Brachydactyly	OMIM:616589
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Cryptorchidism, Postaxial hand polydactyly, Obe...	ORPHA:110
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Keutel Syndrome	Peripheral pulmonary artery stenosis, Sinusitis, Short hallux, Premature fusion of phalangeal epi...	OMIM:245150
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Failure to thrive, Single transverse palmar...	OMIM:607932
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short hard palate, Cachexia, Genu varum	ORPHA:1969
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Single transverse palmar crease, Tapered finger, Carious teeth, Cryptorchidism, Short ...	OMIM:619522
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Inguinal hernia, Hypoplastic toenails, Umbilical hernia, Dystrophic to...	OMIM:616028
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelect...	ORPHA:79126
Fanconi Anemia	Micrognathia, Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5t...	ORPHA:84
Werner Syndrome	Alopecia of scalp, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcifi...	OMIM:277700
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Farber Disease	Abnormality of the hand, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Abnormality o...	ORPHA:333
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Hypersensitivity pneumonitis, Weight loss, Pleural effusion, Generalized abnormality...	ORPHA:2902
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Streak ovary, Micrognathia, Cryptorchidism, Long philtrum	OMIM:618820
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Viss Syndrome	Prominent superficial blood vessels, Micrognathia, High, narrow palate, High palate, Broad uvula,...	OMIM:619472
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Digeorge Syndrome	Inguinal hernia, Parathyroid agenesis, Femoral hernia, Micrognathia, High, narrow palate, Atelect...	OMIM:188400
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory tract infection, Atelectasis, Flexion contracture, Macroglossia, Difficulty in tongue...	ORPHA:365
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Curly hair, Broad lateral eyebrow, Arachnodactyly, Failure to thrive in infan...	ORPHA:500150
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf...	ORPHA:60032
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Toe clinodactyly, Sandal gap, Long fingers, Recu...	OMIM:620330
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Pulmonary edema	ORPHA:70587
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Noonan Syndrome With Multiple Lentigines	Excessive wrinkled skin, Cryptorchidism, Scapular winging, Abnormality of the pulmonary artery	ORPHA:500
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Sho...	OMIM:615503
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta...	OMIM:610978
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br...	OMIM:615067
Sarcoidosis, Susceptibility To, 1	Emphysema, Enlarged lacrimal glands, Clubbing, Bronchiectasis, Weight loss, Abnormal pulmonary in...	OMIM:181000
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Joubert Syndrome 33	Syndactyly	OMIM:617767
Acquired Generalized Lipodystrophy	Progeroid facial appearance, Generalized lipodystrophy, Polycystic ovaries, Panniculitis, General...	ORPHA:79086
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst	ORPHA:2357
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Premature graying of hair, Nail dystrophy, Pulmonary fibrosis, Emphysema	OMIM:620365
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Zygomycosis	Fasciitis, Sinusitis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cellulitis, Pleural ...	ORPHA:73263
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Small nail	OMIM:263630
Charge Syndrome	Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat...	OMIM:214800
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Failure to thrive	ORPHA:2169
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t...	ORPHA:2911
Meconium Aspiration Syndrome	Atelectasis, Pneumothorax, Aspiration pneumonia	ORPHA:70588
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia	ORPHA:3348
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Cachexia, Urticaria, Cutaneous photosensitivity, Dry skin	ORPHA:220295
Bardet-Biedl Syndrome 6	Syndactyly, Obesity, Postaxial polydactyly	OMIM:605231
Sarcoidosis	Alopecia, Scarring, Abnormal pleura morphology, Abnormal lung morphology, Pneumothorax, Enlarged ...	ORPHA:797
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane...	OMIM:615919
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Lujo Hemorrhagic Fever	Ecchymosis, Atelectasis, Purpura	ORPHA:319213
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Emphysema, Pneumothorax, Pulmonary lymphangiomyoma...	ORPHA:538
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Biliary, Renal, Neurologic, And Skeletal Syndrome	Pulmonary artery dilatation, Syndactyly, Inguinal hernia, Recurrent respiratory infections, Anter...	OMIM:619534
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Progeroid facial appearance	OMIM:300578
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Small for gestational age, Prolonged neonatal jaundice	OMIM:224120
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Recurrent respiratory infections, Failure to thrive, Pulmonary fibrosis	OMIM:618278
Grange Syndrome	Finger clinodactyly, Syndactyly, Decreased body weight, Brachydactyly	OMIM:602531
Congenital Fibrosis Of Extraocular Muscles	Hand oligodactyly	ORPHA:45358
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Progeroid facial appearance	OMIM:610651
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cellulitis	OMIM:306400
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han...	OMIM:236700
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Radioulna...	OMIM:192350
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770

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 Sp6

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 Sp6.

No publications found that use IMPC mice or data for Sp6.

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
Sp6^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sp6^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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