Desmosterolosis

disorder

SNOMED 709490002CUI C1865596

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.

Abnormality of cholesterol metabolism

Always present (100%)HP:0003107

Decreased body height

Always present (100%)HP:0004322

Elevated circulating desmosterol concentration

Always present (100%)HP:0034937

Hypoplastic or absent corpus callosum

Always present (100%)HP:0007370

Mental and motor retardation

Always present (100%)HP:0001263

Absence of corpus callosum

Very frequent (80-99%)HP:0001274

Absence of the septum pellucidum

Very frequent (80-99%)HP:0001331

Cleft of palate

Very frequent (80-99%)HP:0000175

Decreased projection of lower jaw

Very frequent (80-99%)HP:0000347

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Distal arthrogryposis

Very frequent (80-99%)HP:0005684

Feeding difficulties

Very frequent (80-99%)HP:0011968

Growth failure

Very frequent (80-99%)HP:0001510

Hypertonia

Very frequent (80-99%)HP:0001276

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Muscle rigidity

Very frequent (80-99%)HP:0002063

Muscle stiffness

Very frequent (80-99%)HP:0003552

Poor school performance

Very frequent (80-99%)HP:0001249

Poor weight gain

Very frequent (80-99%)HP:0001508

Reduced cerebral white matter volume

Very frequent (80-99%)HP:0034295

Retrognathia

Very frequent (80-99%)HP:0000278

Short stature, severe

Very frequent (80-99%)HP:0003510

Submucous cleft hard palate

Very frequent (80-99%)HP:0000176

Uvula bifida

Very frequent (80-99%)HP:0000193

Abnormal earlobe morphology

Frequent (30-79%)HP:0000363

Ambiguous genitalia in males

Frequent (30-79%)HP:0000033

Ambiguous genitalia, female

Frequent (30-79%)HP:0000061

Bilateral clubfeet

Frequent (30-79%)HP:0001776

Capuchin ears

Frequent (30-79%)HP:0000378

Related Conditions

Disorder of cholesterol synthesis(parent)

Recessive hereditary disorder (autosomal)(parent)

Neonatal osteosclerotic dysplasia(parent)

Metabolic bone disease(parent)

Hereditary disorder of musculoskeletal system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 709490002
UMLS CUI: C1865596
Fully Specified Name: Desmosterolosis (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.