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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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