Cantu Syndrome is a rare disorder with congenital hypertrichosis.

Inheritance: autosomal dominant


Chromosome: 12p12.1

Genes affected: ABCC (ATP binding cassette sub-family C member 9) or KCNJ8 (ATP sensitive inward rectifier potassium channel 8)


Clinical features:

(1) congenital hypertrichosis

(2) cardiomegaly

(3) variable patent ductus arteriosus (PDA)

(4) skeletal anomalies (broad ribs, thickened calvarium, scoliosis, flaring of the metaphyses)

(5) variable aortic anomalies

(6) variable developmental delay

(7) variable behavioral problems


Facial features:

(1) broad nasal bridge

(2) wide mouth

(3) full lips

(4) macroglossia

(5) epicanthal folds

(6) anteverted nares

(7) long philtrum

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