It is important that clinical geneticists, where possible, categorise rare autosomal recessive disorders into discrete entities. This has become especially important for those who manage syndrome databases so that individual case reports can be correctly added to the existing literature or be entered separately. In order to clarify this we would like to draw attention to the report by Casamassima et a1 [ 19871 which went to press before the publication of the paper by Thompson and Baraitser [ 19871 on what seems to be the same condition (see Table 1). All three reports (the third being Hunter et al, 1974) appear to refer to the same condition, and, for the time being at least, it should be considered an entity separate from either Smith-Lemli-Opitz or the Meckel syndromes. The best "handles" leading to the diagnosis are the following: developmental delay, bilateral ptosis, anteverted nostrils-indeed the face in some looks like that of children with the Smith-Lemli-Opitz syndrome-polydactyly (post-axial) in some, renal anomalies (but not those which are usually seen in Meckel syndrome), and hepatic fibrosis. Most of the children have developed a basal ganglia movement disorder. In addition, a cerebellar defect was emphasised by Casamassima et al with similarity noted to Joubert syndrome, but as far as we are aware, hepatic fibrosis is not a manifestation in Joubert syndrome. All three reports concerned affected sibs.