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Nestor Guillermo progeria syndrome

disorder
SNOMED 773331001CUI C3151446

Overview

Nestor Guillermo progeria 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
Breakdown of bone
Always present (100%)HP:0002797
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Complete right bundle branch block
Always present (100%)HP:0011712
Decreased body height
Always present (100%)HP:0004322
Decreased projection of mandible
Always present (100%)HP:0000347
Dental crowding
Always present (100%)HP:0000678
Dry skin
Always present (100%)HP:0000958
Flat midface
Always present (100%)HP:0011800
Flexion contractures
Always present (100%)HP:0001371
Hair loss
Always present (100%)HP:0001596
Hooked nose
Always present (100%)HP:0000444
Limited elbow movement
Always present (100%)HP:0002996
Mandibular osteolysis
Always present (100%)HP:0034046
Osteoporosis
Always present (100%)HP:0000939
Patchy hyperpigmentation
Always present (100%)HP:0005585
Persistent anterior fontanelle
Always present (100%)HP:0001476
Progressive acroosteolysis of the clavicle
Always present (100%)HP:0000905
Retromicrognathia
Always present (100%)HP:0000308
Rib osteolysis
Always present (100%)HP:0034047
Sinus tach
Always present (100%)HP:0011703
Sparse eyebrow
Always present (100%)HP:0045075
Stiff joint
Always present (100%)HP:0001387
Thin eyelashes
Always present (100%)HP:0000653
Atrophy of fat
Frequent (30-79%)HP:0100578
Decreased serum leptin
Frequent (30-79%)HP:0003292
Decreased volume of lip vermillion
Frequent (30-79%)HP:0000233
Dystrophic nails
Frequent (30-79%)HP:0008404
Enlarged heart right atrium
Frequent (30-79%)HP:0030718
Growth deficiency
Frequent (30-79%)HP:0001510

Related Conditions

Osteolysis(parent)
Recessive hereditary disorder (autosomal)(parent)
Premature ageing syndrome(parent)
Metabolic bone disease(parent)
Hereditary disorder of musculoskeletal system(parent)
Fetal and/or neonatal disorder of integument(parent)

Quick Facts

SNOMED CT
773331001
UMLS CUI
C3151446
Fully Specified Name
Nestor Guillermo progeria 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.