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Aase-Smith syndrome
Also known as:
Aase’s syndrome
Associated persons:
Jon Morton Aase
David Weyhe Smith
Description:
A familial deformity syndrome of variable expressivity, characterised by congenital hypoplastic anaemia and connatal triphalangy of the thumbs. Other features may be hydrocephalus with Dandy-Walker anomaly, cleft palate, and multiple contractures of the joints, narrow shoulders. Occur in males; present from birth. The syndrome was originally described in two male siblings. Some writers consider this and the Diamond-Blackfan syndrome to be the same entity. Inheritance is probably autosomal recessive.
Bibliography:
- J. M Aase, D. W. Smith:
Congenital anemia and triphalangeal thumbs: a new syndrome.
Journal of Pediatrics, St. Louis, 1969, 74: 471-474.
- J. M Aase, D. W. Smith:
Dysmorphogenesis of joints, brain, and palate. A new inherited syndrome.
Journal of Pediatrics, St. Louis, 1968, 73: 606-609.
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