A rare multiple congenital anomalies syndrome characterized by variable skeletal abnormalities (including craniostenosis pectus carinatum short sternum joint hyperextensibility and anbnormal vertebrae) cutis laxa with excessive skin folds around the cheek chin and neck ambiguous genitalia with a micropenis and perineal hypospadia an umbilical hernia intellectual disability premature aged appearance and cardiac enlargement involving either the ventricles or atria. Facial dysmorphism is variable and can include multiple hair whorls ptsosis high and broad nasal root low set ears and small chin. Enamel hypocalcification abnormal modelling of tubular bones and reduced cutis laxa may become apparent later on.
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
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Advocacy Organizations
Myhre Syndrome Foundation
We aim to safely bring the best possible treatments to the Myhre syndrome community. We’re building tools to test a wide range of therapies—from existing drugs to DNA repair.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
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