WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Synonyms: Desanto-Shinawi syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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