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Neu-Laxova syndrome

disorder
SNOMED 77817004CUI C0265218

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Brain degeneration
Always present (100%)HP:0012444
Short neck
Always present (100%)HP:0000470
Small skull present at birth
Always present (100%)HP:0011451
Abnormal shape of nervous system
Very frequent (80-99%)HP:0012639
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Lack of skin elasticity
Very frequent (80-99%)HP:0100679
Prominent lips
Very frequent (80-99%)HP:0012471
Sloping forehead
Very frequent (80-99%)HP:0000340
Abnormal cortical gyration
Frequent (30-79%)HP:0002536
Abnormal mouth
Frequent (30-79%)HP:0000153
Abnormality of neuronal migration
Frequent (30-79%)HP:0002269
Abnormality of the cerebellar vermis
Frequent (30-79%)HP:0002334
Abnormality of the philtrum
Frequent (30-79%)HP:0000288
Absence of the septum pellucidum
Frequent (30-79%)HP:0001331
Absent/small skeletal muscles
Frequent (30-79%)HP:0001460
Ambiguous external genitalia
Frequent (30-79%)HP:0000062
Aplasia of the eyelids
Frequent (30-79%)HP:0011224
Arc de cercle
Frequent (30-79%)HP:0002179
Broad foot
Frequent (30-79%)HP:0001769
Broad neck
Frequent (30-79%)HP:0000475
Cerebral pachygyria
Frequent (30-79%)HP:0001302
Cleft of upper lip
Frequent (30-79%)HP:0000204
Dandy-Walker cyst
Frequent (30-79%)HP:0001305
Decrease in jaw opening
Frequent (30-79%)HP:0000211
Decreased activity of gonads
Frequent (30-79%)HP:0000135
Dermatopathy
Frequent (30-79%)HP:0000951
Disproportionately large hands
Frequent (30-79%)HP:0001176
Early severe foetal akinesia sequence
Frequent (30-79%)HP:0001989

Related Conditions

Autosomal recessive ichthyosis(parent)
3-Phosphoglycerate dehydrogenase deficiency(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital microcephalus(parent)

Quick Facts

SNOMED CT
77817004
UMLS CUI
C0265218
Fully Specified Name
Neu-Laxova syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.