has material basis in germline mutation in
FIG4
syndromic disease
Yunis-Varon syndrome
https://rarediseases.info.nih.gov/diseases/331/yunis-varon-syndrome
cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia
cleidocranial dysplasia-micrognathia-absent thumbs syndrome
MONDO:0008995
YVS
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
DOID:0060589
MESH:C536719
Yunis Varon syndrome
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.
Orphanet:3472
NORD:1875
UMLS:C1857663
GARD:331
OMIM:216340
Yunis-VarĂ³n syndrome
Yunis-Varon syndrome
cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia
skeletal dysplasia