Neu-Laxova Syndrome 1 (NLS1) is an extremely rare lethal congenital abnormality. This disorder is characterized by intrauterine growth retardation, distinctive craniofacial abnormalities (microcephaly, hypertelorism, prominent eyes, absent eyelids, wide nasal bridge, retrognathia, and cleft lips), flexion contractures, hypoplastic digits showing syndactyly, edema, generalized or localized to the face and scalp, hyperkeratosis, ichthyosis, and polyhydramnios. Neurological abnormalities include lissencephaly, dysgenesis of the corpus callosum, and cerebellar hypoplasia. Other abnormalities that may be present include rocker-bottom feet, abnormal external genitalia (especially in males), spina bifida, cryptoorchidism, cataracts, shallow orbital cavities, kyphosis, and webbing of the knee and elbow joints. Very few cases of NLS1 have been reported worldwide, and the condition seems not to show any sexual or ethnic preference.
Meguid and Temtamy (1991) reported affected females from two families in each of which four other members were affected. Features of the disease included: severe microcephaly with slanting forehead and protuberant eyes, generalized edema, contractures of the limbs, and generalized ichthyotic skin lesions. Families of the patients were consanguineous and included affected sibs and cousins as well.
Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in an Omani hospital in Nizwa. Of the 21,988 total births in the hospital, one child was born with Neu-Laxova syndrome. Sawardekar (2005) hinted for a possible genetic contribution in this child.