Craniofaciofrontodigital syndrome

MONDO:0007259

Craniofaciofrontodigital 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).

Also known as: Cantu craniofaciofrontodigital syndrome, craniofaciofrontodigital syndrome

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↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Inherited cutis laxa (2)

Including sub-types (0) Tagged with Craniofaciofrontodigital syndrome (0)

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