Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome

disorder

SNOMED 719475006CUI C2752042

Overview

Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly 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.

Fatty lump

Always present (100%)HP:0012032

Capillary malformation

Very frequent (80-99%)HP:0025104

Increased fat tissue

Very frequent (80-99%)HP:0009126

Abnormal lymphatic vessel morphology

Frequent (30-79%)HP:0100766

Asymmetric overgrowth

Frequent (30-79%)HP:0001528

Broad palm

Frequent (30-79%)HP:0001169

Bulbous tips of toes

Frequent (30-79%)HP:0001782

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Epidermal nevus

Frequent (30-79%)HP:0010816

Macrodactyly

Frequent (30-79%)HP:0004099

Maxillary prognathia

Frequent (30-79%)HP:0430028

Small kidneys

Frequent (30-79%)HP:0000089

Space between great toe and second toe

Frequent (30-79%)HP:0001852

Ulnar deviation of the hands

Frequent (30-79%)HP:0009487

Unbalanced face

Frequent (30-79%)HP:0000324

Uneven or disproportionate growth of one body part compared to another

Frequent (30-79%)HP:0100555

Venous malformations

Frequent (30-79%)HP:0012721

Abnormal thrombosis

Occasional (5-29%)HP:0001977

Acral enlargement

Occasional (5-29%)HP:0033794

Arteriovenous malformation

Occasional (5-29%)HP:0100026

Cutaneous syndactyly of digits

Occasional (5-29%)HP:0012725

Cutis marmorata

Occasional (5-29%)HP:0000965

Cystic kidney disease

Occasional (5-29%)HP:0000107

Dislocated patellae

Occasional (5-29%)HP:0002999

Gait disturbance

Occasional (5-29%)HP:0001288

Hemimegalencephaly

Occasional (5-29%)HP:0007206

Hypoplastic or absent corpus callosum

Occasional (5-29%)HP:0007370

Incomplete closure of the vertebral arch

Occasional (5-29%)HP:0010301

Large spleen

Occasional (5-29%)HP:0001744

Left and right leg differ in length or width

Occasional (5-29%)HP:0100559

Related Conditions

Congenital anomaly of musculoskeletal system(parent)

Epidermal nevus(parent)

Lipomatous tumor(parent)

Congenital vascular malformation(parent)

Neoplasm of soft tissue(parent)

Congenital hamartoma of skin(parent)

Quick Facts

SNOMED CT: 719475006
UMLS CUI: C2752042
Fully Specified Name: Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly 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.