Aase-Smith syndrome
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Aase-Smith syndrome (a.k.a Aase syndrome) is an extremely rare congenital disorder.
Clinical features
- congenital hypoplastic anaemia - fetal anaemia
- triphalangeal thumbs
- broad thumb
- abnormal clavicles
- cleft lip, cleft palate
- hypoplastic radii
- hydrocephalus (due to Dandy-Walker anomaly)
- joint contractures
- narrow shoulders
- underdeveloped lower arms
- ventricular septal defect
- delayed closure of fontanelles
- ear anomalies
Pathology
It is believed to be due to an underdeveloped bone marrow
Genetics
The genetic basis is not yet known however it is believed to be an autosomal recessive disorder
Associations
- Joubert syndrome
- Walker-Warburg syndrome
- Ellis-van Creveld syndrome
- an overlap with Gordon syndrome is often suggested 8.
History and etymology
It is named after Jon Morton Aase and David Weyhe Smith (American paediatricians) who characterized it in 1968 5
-<p><strong>Aase-Smith syndrome</strong> is an extremely rare congenital disorder.</p><h4>Clinical features</h4><ul>- +<p><strong>Aase-Smith syndrome</strong> (a.k.a <strong>Aase syndrome</strong>) is an extremely rare congenital disorder.</p><h4>Clinical features</h4><ul>
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