We report on a Spanish child with clinical manifestations suggestive of ami
nopterin syndrome sine aminopterin (ASSA), having unusual hair pattern, syn
dactyly of fingers and toes, low-set thumbs, high-arched palate, and mild d
evelopmental delay. However, he does not show other characteristic features
of ASSA such as ossification defects of the cranium, microcephaly, hyperte
lorism, cryptorchidism, or growth retardation, Differences from and similar
ities with Juberg-Hayward syndrome are discussed. Because few patients have
been reported so far it is difficult to distinguish between these two cond
itions, and it may be that they are variants of the same nosological entity
. Consanguinity of parents in this family supports autosomal recessive inhe
ritance of ASSA, (C) 2000 Wiley-Liss, Inc.