Craniofaciofrontodigital syndrome

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Craniofaciofrontodigital syndrome

Synonyms: Cantu craniofaciofrontodigital syndrome

Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability short stature cardiac anomalies mild dysmorphic features (macrocephaly prominent forehead hypertelorism exophthalmos) cutis laxa joint hyperlaxity wrinkled palms and soles and skeletal anomalies (sella turcica wide ribs and small vertebral bodies).

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 March 2024

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Clinical Trials

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