Neu-Laxova Syndrome 1

Alternative Names

  • Neu-Laxova Syndrome; NLS
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

256520

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p12

Description

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.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
256520.1Saudi ArabiaNoYes Stillbirth; Severe intrauterine growth ...NM_006623.4:c.418G>AHomozygousAutosomal, RecessiveEl-Hattab et al. 2016
256520.3.1Saudi ArabiaFemaleYesYes Neonatal death; Severe intrauterine gr...NM_006623.4:c.418G>AHomozygousAutosomal, RecessiveShaheen et al, 2014 Index patient
256520.3.2Saudi ArabiaFemaleYesYes Neonatal death; Severe intrauterine gr...NM_006623.4:c.418G>AHomozygousAutosomal, RecessiveShaheen et al, 2014 Sister of 256520.3.2
256520.4Saudi ArabiaNoYes Neonatal death; Polyhydramnios; Micr...NM_006623.4:c.418G>AHomozygousAutosomal, RecessiveShaheen et al, 2014
256520.5Saudi ArabiaMaleNoYes Neonatal death; Microcephaly; Jaundice...NM_006623.4:c.488G>AHomozygousAutosomal, RecessiveShaheen et al, 2014

Other Reports

Egypt

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.

Oman

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.

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