Neu-Laxova syndrome

Orpha code: 2671OMIM code: 616038

Definition

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

Disease data
Classification

Malformation syndrome

Synonyms
Niedobór dehydrogenazy 3-fosfoglicerynianu, postać noworodkowa
ORPHA code
2671
OMIM code
616038
ICD10 code
Q87.8
ICD11 code
LD20.1

No additional description.

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