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 2026
Newly diagnosed with
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.