Aase-Smith syndrome

A very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 1

                       


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PMID (PMCID)
7974814
 FEMALE Infant
Aase-Smith syndrome: report of a new case with unusual features.
Yetgin S, Balci S, Irken G, Coskun T, Say B.
Turk J Pediatr. 1994;36(3):239-42.
A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia.