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

Orpha code: 466943OMIM code: 616708

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Desanto-Shinawi syndrome
Kod ORPHA
466943
Kod OMIM
616708
Kod ICD10
-
Kod ICD11
-

No additional description.

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