Mulibrey nanism syndrome

disorder

SNOMED 81604003CUI C0524582

Overview

Mulibrey nanism syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Cachexia

Very frequent (80-99%)HP:0004326

Decreased body height

Very frequent (80-99%)HP:0004322

Diminished deep tendon reflexes

Very frequent (80-99%)HP:0001315

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hypophonia

Very frequent (80-99%)HP:0001621

Increased nasal width

Very frequent (80-99%)HP:0000445

Inverted triangular face

Very frequent (80-99%)HP:0000325

J-shaped hypophysial fossa

Very frequent (80-99%)HP:0002680

Large head

Very frequent (80-99%)HP:0000256

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Very poor growth

Very frequent (80-99%)HP:0001510

Central hypotonia

Frequent (30-79%)HP:0001252

Enlarged liver

Frequent (30-79%)HP:0002240

Lower respiratory tract infections

Frequent (30-79%)HP:0002783

Misalignment of upper and lower dental arches

Frequent (30-79%)HP:0000689

Missing frontal sinus

Frequent (30-79%)HP:0002688

Pericardial constriction

Frequent (30-79%)HP:0005132

port-wine stain

Frequent (30-79%)HP:0001052

Ascites

Occasional (5-29%)HP:0001541

Broad cortex of long bones

Occasional (5-29%)HP:0000935

Corneal dystrophy

Occasional (5-29%)HP:0001131

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Increased heart size

Occasional (5-29%)HP:0001640

Mental retardation, mild

Occasional (5-29%)HP:0001256

Nephroblastoma

Occasional (5-29%)HP:0002667

Squint

Occasional (5-29%)HP:0000486

Dysplasia of tooth enamel

Very rare (1-4%)HP:0006297

Hydrops fetalis

Very rare (1-4%)HP:0001789

Iris coloboma

Very rare (1-4%)HP:0000612

Related Conditions

Pericarditis secondary to Mulibrey nanism(child)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 81604003
UMLS CUI: C0524582
Fully Specified Name: Mulibrey nanism 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.