Multiple synostoses syndrome 1

Preferred Label : Multiple synostoses syndrome 1;

Symbol : SYNS1;

CISMeF acronym : SYNS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Synostoses, multiple, with brachydactyly; Symphalangism-brachydactyly syndrome; Deafness-symphalangism syndrome of herrmann; Wl syndrome; Facioaudiosymphalangism syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the mouse Noggin gene (NOG, 602991.0003); Caused by mutation in the growth/differentiation factor-5 gene (GDF5, 601146.0013);

Prefixed ID : #186500;

Details

Origin ID

186500;

UMLS CUI

C0342282;

Broader ORDO disease(s)
- Multiple synostoses syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Multiple synostoses syndrome [ORDO Disease]
- Multiple synostoses syndrome 1 [MeSH concept]
- multiple synostoses syndrome [DO Concept]
DO Cross reference
- multiple synostoses syndrome [DO Concept]
False automatic mappings
- Sillence syndrome [ORDO Disease]
Genes related to phenotype
- Noggin [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Absent distal phalanges [HPO term]
- Absent proximal finger flexion creases [HPO term]
- Amblyopia [HPO term]
- Anonychia [HPO term]
- Aplastic/hypoplastic fingernails [HPO term]
- Aplastic/hypoplastic toenail [HPO term]
- Astigmatism [HPO term]
- Asymmetry of the mouth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral conductive hearing impairment [HPO term]
- Brachydactyly [HPO term]
- Carpal synostosis [HPO term]
- Clinodactyly of the 4th toe [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Cubitus valgus [HPO term]
- Cutaneous finger syndactyly [HPO term]
- Dislocated radial head [HPO term]
- Enlargement of the costochondral junction [HPO term]
- Fusion of midphalangeal joints [HPO term]
- Hypermetropia [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic nasal septum [HPO term]
- Hypoplastic spinal processes [HPO term]
- Lower limb undergrowth [HPO term]
- Narrow face [HPO term]
- Pectus excavatum [HPO term]
- Progressive conductive hearing impairment [HPO term]
- Proximal/middle symphalangism of 4th finger [HPO term]
- Proximal/middle symphalangism of 4th toe [HPO term]
- Proximal/middle symphalangism of 5th finger [HPO term]
- Proximal/middle symphalangism of 5th toe [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Short feet [HPO term]
- Short foot [HPO term]
- Short hallux [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short lower limbs [HPO term]
- Short middle phalanx of the 4th finger [HPO term]
- Short middle phalanx of the 5th finger [HPO term]
- Short middle phalanx of the 5th toe [HPO term]
- Short philtrum [HPO term]
- Short sternum [HPO term]
- Single transverse palmar crease [HPO term]
- Spinal canal stenosis [HPO term]
- Stapes ankylosis [HPO term]
- Strabismus [HPO term]
- Symphalangism affecting the phalanges of the hand [HPO term]
- Tarsal synostosis [HPO term]
- Thick upper lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Underdeveloped nasal alae [HPO term]
- Upslanted palpebral fissure [HPO term]
- Waddling gait [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Multiple synostoses syndrome [ORDO Disease]
See also inter- (CISMeF)
- NOG-Related-Symphalangism spectrum disorder [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple synostoses syndrome [ORDO Disease]
- Multiple synostoses syndrome 1 [MeSH concept]
- multiple synostoses syndrome [DO Concept]
Validated automatic mappings to NTBT
- Multiple synostoses syndrome [ICD-11 More detail]

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