Neu-Laxova Syndrome 2

Alternative Names

  • NLS2
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

616038

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q21.2

Description

Neu-Laxova syndrome is a severe disorder characterized by low plasma and CSF levels of serine and glycine.  It results in severe intra-uterine growth retardation, microcephaly, seizures, ichthyotic skin, flexion deformities, limb malformations, and edema of the hands and feet.  Patients usually suffer from facial dysmorphia, which may include a sloping forehead, micrognathia, low-set malformed ears, hypertelorism, absent or abnormal eyelids, a flat nose, a round gaping abnormal mouth, a high-arched or cleft palate, and a short neck.  Brain anomalies such as decreased or absent gyri may also occur.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
616038.1LebanonMale Short ribs; Narrow chest; Abnormalit...NM_058179.4:c.296C>THomozygousAutosomal, RecessiveNair et al. 2018
616038.2EgyptMaleYes Microcephaly; Intrauterine growth retar...NM_058179.4:c.296C>THomozygousAutosomal, RecessiveEl-Hattab et al. 2016
© CAGS 2024. All rights reserved.