Synonyms: Opitz-Kaveggia syndrome
A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability early hypotonia constipation feeding problems imperforate anus characteristic behavior (affable eager to please) and dysmorphic craniofacial features (such as relative macrocephaly prominent forehead with frontal hair upsweep hypertelorism downslanting palpebral fissures and open mouth). Additional manifestations are partial agenesis of the corpus callosum sensorineural hearing loss joint laxity cardiac anomalies and abnormalities of the fingers and toes among others.
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
FG syndrome type 1?
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Advocacy Organizations
Oklahoma Rare
To bring together individuals and families impacted by rare diseases in Oklahoma by building community, sharing trusted resources, and promoting thoughtful, solutions-oriented advocacy. We believe in the strength of families, the power of shared experiences, and the importance of ensuring that every Oklahoman - no matter how rare - has a place, a voice, and a path forward.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
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