Acroosteolysis, keloid-like lesions, premature ageing syndrome

disorder

SNOMED 776417008CUI C1866182

Overview

Acroosteolysis, keloid-like lesions, premature ageing 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.

Acro-osteolysis of distal phalanges

Always present (100%)HP:0009839

Prematurely aged appearance

Always present (100%)HP:0007495

Delayed skeletal development

Frequent (30-79%)HP:0002750

Ocular hypotelorism

Frequent (30-79%)HP:0000601

Posterior fossa cyst

Frequent (30-79%)HP:0007291

Short palm

Frequent (30-79%)HP:0004279

Aplasia of the nasal bone

Occasional (5-29%)HP:0010941

Big calvaria

Occasional (5-29%)HP:0000256

Brachydactyly

Occasional (5-29%)HP:0001156

Cervical ribs

Occasional (5-29%)HP:0000891

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Corneal stromal edema

Occasional (5-29%)HP:0012040

Delayed eruption of teeth

Occasional (5-29%)HP:0000684

Distal phalangeal hypoplasia

Occasional (5-29%)HP:0009882

Epidermal hyperkeratosis

Occasional (5-29%)HP:0000962

Extra bones within cranial sutures

Occasional (5-29%)HP:0002645

Flexion deformity of finger

Occasional (5-29%)HP:0012785

Fluid-filled sac located in membrane surrounding brain or spinal cord

Occasional (5-29%)HP:0100702

Frontal protuberance

Occasional (5-29%)HP:0002007

Growth of abnormal tissue on or under the skin

Occasional (5-29%)HP:0200036

Hooked nose

Occasional (5-29%)HP:0000444

Hyperextensibility of the knee

Occasional (5-29%)HP:0010500

Hyperopia

Occasional (5-29%)HP:0000540

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Hypotrichosis

Occasional (5-29%)HP:0008070

Increased distance between eyes

Occasional (5-29%)HP:0000316

Joint contracture

Occasional (5-29%)HP:0034392

Keloids

Occasional (5-29%)HP:0010562

Nanophthalmos

Occasional (5-29%)HP:0000568

Narrow philtrum

Occasional (5-29%)HP:0011829

Related Conditions

Autosomal dominant hereditary disorder(parent)

Premature ageing syndrome(parent)

Metabolic bone disease(parent)

Hereditary acroosteolysis(parent)

Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT: 776417008
UMLS CUI: C1866182
Fully Specified Name: Acroosteolysis, keloid-like lesions, premature aging 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.