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Syndrome with characteristics of congenital microcephaly with a sharply sloping forehead, digital anomalies (hallux valgus, syndactyly of the toes, short fifth fingers with a single flexion crease and absence of the distal interphalangeal crease of the fourth finger) and moderate to severe intellectual deficit. Less than 10 patients have been described so far. Linkage analysis has identified a candidate region on chromosome 18 (18p11.2-q12.3). Transmission is autosomal recessive.
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