SCARF syndrome

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SCARF syndrome

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 Data version December 2023

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SCARF syndrome?

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