/X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Rare Disease

MONDO:0010332

Also Known As

Cubitus valgus with mental retardation and unusual facies, X-linked recessivecubitus valgus with intellectual disability and unusual faciescubitus valgus with mental retardation and unusual facies

Definition

An X-linked syndromic intellectual disability characterized by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.