Synonyms: X-linked intellectual disability, Atkin type
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit macrocephaly short stature and facial dysmorphism (such as prominent forehead prominent supraorbital ridges hypertelorism downslanting palpebral fissures broad nasal tip anteverted nostrils thick lower lip and localized microdontia). Additional reported features include seizures post-pubertal macroorchidism obesity and short broad hands with tapered fingers.
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 June 2026
Newly diagnosed with
Atkin-Flaitz syndrome?
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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.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.