Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome

disorder

SNOMED 1220589007CUI C3279800

Overview

Generalized lipodystrophy, progeroid features, severe intellectual disability 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.

Congenital generalized lipodystrophy

Always present (100%)HP:0009059

Decreased serum leptin

Always present (100%)HP:0003292

Decreased height of philtrum

Very frequent (80-99%)HP:0000322

Decreased projection of lower jaw

Very frequent (80-99%)HP:0000347

Poor school performance

Very frequent (80-99%)HP:0001249

Premature skin wrinkling

Very frequent (80-99%)HP:0100678

Slack jawed appearance

Very frequent (80-99%)HP:0000194

Abnormal forehead morphology

Frequent (30-79%)HP:0000290

Arc de cercle

Frequent (30-79%)HP:0002179

Bulbous tip of nose

Frequent (30-79%)HP:0005274

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased amount of facial adipose tissue

Frequent (30-79%)HP:0000292

Decreased testicular size

Frequent (30-79%)HP:0008734

Dilatation of lateral cerebral ventricles

Frequent (30-79%)HP:0006956

Eye movement issue

Frequent (30-79%)HP:0000496

Febrile seizure (within the age range of 3 months to 6 years)

Frequent (30-79%)HP:0002373

Flexion contractures

Frequent (30-79%)HP:0001371

Growth delay as children

Frequent (30-79%)HP:0008897

Gum enlargement

Frequent (30-79%)HP:0000212

High arched palate

Frequent (30-79%)HP:0000218

Hydramnios

Frequent (30-79%)HP:0001561

Inability to make and keep healthy fat tissue

Frequent (30-79%)HP:0009125

Indentation of chin

Frequent (30-79%)HP:0010751

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Lack of facial subcutaneous fat

Frequent (30-79%)HP:0005320

Lack of fatty tissue below the skin

Frequent (30-79%)HP:0007485

Lipodystrophy, generalised

Frequent (30-79%)HP:0009064

Mask-like facies

Frequent (30-79%)HP:0000298

Nasal bridge, thin

Frequent (30-79%)HP:0000446

Panting

Frequent (30-79%)HP:0002094

Related Conditions

Severe mental retardation (I.Q. 20-34)(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic lipodystrophy(parent)

Autosomal dominant hereditary disorder(parent)

Connective tissue hereditary disorder(parent)

Developmental hereditary disorder(parent)

Premature ageing syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1220589007
UMLS CUI: C3279800
Fully Specified Name: Keppen Lubinsky 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.