Legius syndrome

disorder

SNOMED 703541007CUI C1969623

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.

Cafe-au-lait spots

Always present (100%)HP:0000957

Multiple birthmarks

Very frequent (80-99%)HP:0007565

Axillary freckling

Frequent (30-79%)HP:0000997

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Freckling

Frequent (30-79%)HP:0001480

Inguinal freckling

Frequent (30-79%)HP:0030052

Specific learning disability

Frequent (30-79%)HP:0001328

Big calvaria

Occasional (5-29%)HP:0000256

Decreased body height

Occasional (5-29%)HP:0004322

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Multiple lipomas

Occasional (5-29%)HP:0001012

Pectus deformities

Occasional (5-29%)HP:0000766

Pectus excavatum

Occasional (5-29%)HP:0000767

Poor attention span

Occasional (5-29%)HP:0000736

Acute monocytic leukaemia

Very rare (1-4%)HP:0004845

Arnold Chiari type I malformation

Very rare (1-4%)HP:0007099

Brain imaging abnormality

Very rare (1-4%)HP:0410263

Childhood attention deficit/hyperactivity disorder

Very rare (1-4%)HP:0007018

Curvature of little finger

Very rare (1-4%)HP:0004209

Dystonic movements

Very rare (1-4%)HP:0001332

Epilepsy

Very rare (1-4%)HP:0001250

Gastrointestinal desmoid tumor

Very rare (1-4%)HP:0100245

Hearing impairment

Very rare (1-4%)HP:0000365

Intellectual impairment

Very rare (1-4%)HP:0100543

Kidney stones

Very rare (1-4%)HP:0000787

Lens opacities

Very rare (1-4%)HP:0000518

Meatus stenosis

Very rare (1-4%)HP:0032077

Mitral valve prolapse

Very rare (1-4%)HP:0001634

Muscular hypotonia

Very rare (1-4%)HP:0001252

Nephroblastoma

Very rare (1-4%)HP:0002667

Related Conditions

Autosomal dominant hereditary disorder(parent)

Cafe-au-lait spots(parent)

Hereditary disorder of the integument(parent)

Genetic disorder of skin pigmentation(parent)

Hyperpigmentation of skin(parent)

Congenital disease(parent)

Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT: 703541007
UMLS CUI: C1969623
Fully Specified Name: Neurofibromatosis type 1-like 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.