DeSanto-Sinawi Syndrome is a rare condition associated with intellectual disability.

Chromosome: 10p12.1-p11.2

Gene: WAC (WW domain containing adaptor with coiled-coil)


Inheritance: autosomal dominant


Clinical features:

(1) developmental delay and/or intellectual behavior

(2) behavioral problems (anxiety, attention deficit with hyperactivity, autism spectrum disorder, aggression, self-injurious)

(3) neonatal hypotonia

(4) feeding problems

(5) mild facial dysmorphic features

(6) variable respiratory problems including recurrent respiratory infections

(7) variable problems in hearing and/or vision

(8) variable hypogammaglobulinemia

(9) brachydactyly

(10) variable seizure disorder


Facial dysmorphic features are often mild and sometimes nonspecific:

(1) prominent broad forehead

(2) hypertelorism

(3) epicanthal folds

(4) posteriorly rotated ears

(5) depressed nasal bridge

(6) bulbous nasal tip

(7) thin upper lip

(8) macroglossia

(9) wide mouth

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