Mandibuloacral dysostosis co-occurrent with type B lipodystrophy

disorder

SNOMED 1003432003CUI C1837756

Overview

Mandibuloacral dysostosis co-occurrent with type B lipodystrophy 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.

Decreased amount of facial adipose tissue

Always present (100%)HP:0000292

Decreased width of nasal dorsum

Always present (100%)HP:0000418

Delayed closure of the fontanelles

Always present (100%)HP:0000270

End-stage renal disease

Always present (100%)HP:0003774

Flexion contractures

Always present (100%)HP:0001371

Hypotrichosis

Always present (100%)HP:0008070

Loss of subcutaneous adipose tissue from extremities

Always present (100%)HP:0003635

Mottled pigmentation

Always present (100%)HP:0001070

Poor growth

Always present (100%)HP:0001510

Prominent veins

Always present (100%)HP:0001015

Reduced tensile strength of hair

Always present (100%)HP:0002299

Short clavicles

Always present (100%)HP:0000894

Absent/small collarbone

Very frequent (80-99%)HP:0006710

Acro-osteolysis of distal phalanges

Very frequent (80-99%)HP:0009839

Acroosteolysis of distal phalanges (feet)

Very frequent (80-99%)HP:0001870

Breakdown of bone

Very frequent (80-99%)HP:0002797

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Hypoplastic mandible

Very frequent (80-99%)HP:0000347

Large bregma sutures

Very frequent (80-99%)HP:0000239

Narrow mouth

Very frequent (80-99%)HP:0000160

Skeletal anomalies

Very frequent (80-99%)HP:0000924

Skin degeneration

Very frequent (80-99%)HP:0004334

Thin skin

Very frequent (80-99%)HP:0000963

Abnormal fingertip morphology

Frequent (30-79%)HP:0001211

Abnormal hair morphology

Frequent (30-79%)HP:0001595

Body fails to respond to insulin

Frequent (30-79%)HP:0000855

Calcinosis

Frequent (30-79%)HP:0003761

Decreased body height

Frequent (30-79%)HP:0004322

Dental anomalies

Frequent (30-79%)HP:0000164

Dystrophic nails

Frequent (30-79%)HP:0008404

Related Conditions

Mandibuloacral dysostosis(parent)

Quick Facts

SNOMED CT: 1003432003
UMLS CUI: C1837756
Fully Specified Name: Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (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.