FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) syndrome

disorder

SNOMED 782949007CUI C2931183

Overview

FACES (facial dysmorphism, anorexia, cachexia, eye and skin anomalies) 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.

Anorexia

Very frequent (80-99%)HP:0002039

Cachexia

Very frequent (80-99%)HP:0004326

Decreased body height

Very frequent (80-99%)HP:0004322

Eye drop

Very frequent (80-99%)HP:0000508

Genua vara

Very frequent (80-99%)HP:0002970

Midline defect of the nose

Very frequent (80-99%)HP:0004122

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Partial syndactyly

Very frequent (80-99%)HP:0006101

Abnormality of RPE

Frequent (30-79%)HP:0007703

Asymmetry of the thorax

Frequent (30-79%)HP:0001555

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Hunched back

Frequent (30-79%)HP:0002808

Multiple cafe-au-lait spots

Frequent (30-79%)HP:0007565

Muscle degeneration

Frequent (30-79%)HP:0003202

Noncancerous mole

Frequent (30-79%)HP:0000995

Pectus excavatum

Frequent (30-79%)HP:0000767

Short palate

Frequent (30-79%)HP:0010290

Thyroid disease

Frequent (30-79%)HP:0000820

Voice abnormality

Frequent (30-79%)HP:0001608

Abnormal mitral valve morphology

Occasional (5-29%)HP:0001633

Fair skin

Occasional (5-29%)HP:0007513

Related Conditions

Cafe-au-lait spots(parent)

Retinitis pigmentosa(parent)

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

Genetic disorder of skin pigmentation(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT: 782949007
UMLS CUI: C2931183
Fully Specified Name: Facial dysmorphism, anorexia, cachexia, eye and skin anomalies 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.