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Isotretinoin-like syndrome

ORPHA:2306· ICD-10 Q87.8

Definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including small, malformed or missing ears, micrognathia, and cleft palate), conotruncal heart defects, aortic arch anomalies, and central nervous system anomalies including hydrocephalus and posterior fossa abnormalities. Clinical features overlap with isotretinoin syndrome/isotretinoin embryopathy, occurs following maternal treatment with isotretinoin, however these patients have no prenatal history of exposure to isotretinoin.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive, X-linked recessive
Age of onset
Infancy, Neonatal