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Yunis-Varon syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008995

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person. [ https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome ]

Term info

database cross reference
  • UMLS:C1857663 (Orphanet:3472/e)
  • GARD:0000331 (MONDO:equivalentTo)
  • OMIM:216340 (Orphanet:3472/e)
  • DOID:0060589 (MONDO:equivalentTo)
  • MESH:C536719 (Orphanet:3472/e)
  • Orphanet:3472 (OMIM:216340)
Subsets

gard_rare, ordo_malformation_syndrome

abbreviation
YVS [ OMIM:216340 MONDO:Lexical ]

definition

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.

exactMatch

https://omim.org/entry/216340, http://purl.obolibrary.org/obo/DOID_0060589, http://identifiers.org/mesh/C536719, http://linkedlifedata.com/resource/umls/id/C1857663, http://purl.obolibrary.org/obo/Orphanet_3472

has exact synonym

cleidocranial dysplasia-micrognathia-absent thumbs syndrome, cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia, Yunis-Varon syndrome

has related synonym

Yunis Varon syndrome, YVS, cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia, cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia, Yunis-Varón syndrome

id

MONDO:0008995

seeAlso

https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome

Term relations