From Hydrolethalus to Acrocallosal Syndromes: A Spectrum of Disorders Linked to the KIF7 Gene
- DOI:
- 10.1093/med/9780199934522.003.0024
Hydrolethalus is an autosomal recessive lethal syndrome (HYLS), described in the Finnish population in 1981 and characterized by the association of postaxial polydactyly of hands, preaxial polydactyly of feet, micrognathia, and hydrocephaly or anencephaly with a key-hole defect of the occipital bone 1. Polyhydramnios and stillbirth or neonatal death are the rule. In 2005, HYLS1 (MIM610693) was identified as the responsible gene in the Finnish population 2. Recently, KIF7 has been identified as the second locus for HYLS2 (MIM614120) 3, and also recognised as responsible for the acrocallosal syndrome (ACLS, MIM200990), another autosomal recessive syndrome with hypertelorism, postaxial polydactyly of hands and preaxial polydactyly of feet with corpus callosum agenesis 4. These findings demonstrate that ACLS and HLS are a spectrum of allelic conditions, with overlapping features, as it was suggested by Schinzel and Kaufmann 5. HYLS2 at the severest end of the spectrum is rapidly lethal while the ACLS although associated to severe developmental delay is compatible with life 1; 5; 6.
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