WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

Orpha code: 466943OMIM code: 616708

Definition

A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.

Disease data
Classification

Malformation syndrome

Synonyms
Desanto-Shinawi syndrome
ORPHA code
466943
OMIM code
616708
ICD10 code
-
ICD11 code
-

No additional description.

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