Weill-Marchesani syndrome

disorder

SNOMED 2884008CUI C0265313

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.

Brachydactyly

Very frequent (80-99%)HP:0001156

Decreased body height

Very frequent (80-99%)HP:0004322

Glaucoma

Very frequent (80-99%)HP:0000501

Microspherophakia

Very frequent (80-99%)HP:0030961

Severe myopia

Very frequent (80-99%)HP:0011003

Thumb hypoplasia

Very frequent (80-99%)HP:0009778

Abnormality of cardiovascular system morphology

Frequent (30-79%)HP:0030680

Abnormality of lens position

Frequent (30-79%)HP:0001083

Diffusely thickened skin

Frequent (30-79%)HP:0001072

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Aortic stenosis

Occasional (5-29%)HP:0001650

Cataract

Occasional (5-29%)HP:0000518

Mental retardation, mild

Occasional (5-29%)HP:0001256

Mitral regurgitation

Occasional (5-29%)HP:0001653

PDA

Occasional (5-29%)HP:0001643

Prolonged QTc interval

Occasional (5-29%)HP:0005184

Pulmonary stenosis

Occasional (5-29%)HP:0001642

Retarded ossification

Occasional (5-29%)HP:0002750

Stiff joint

Occasional (5-29%)HP:0001387

Visual loss

Occasional (5-29%)HP:0000572

VSD

Occasional (5-29%)HP:0001629

Related Conditions

Brachydactyly(parent)

Spherophakia(parent)

Skeletal dysplasia(parent)

Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT: 2884008
UMLS CUI: C0265313
Fully Specified Name: Weill-Marchesani syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.