Craniofaciofrontodigital syndrome
MONDO:0007259Craniofaciofrontodigital 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
0 clinical trials for this condition and its sub-types.
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Disease
(680)
Hereditary disease
(176)
Cutis laxa
(37)
Human disease
(14)
Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Disease by body system or component
(0)
Disease by developmental or physiological process
(0)
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