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Sclerosteosis

disorder
SNOMED 17568006CUI C0265301

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.

2-3 finger cutaneous syndactyly
Very frequent (80-99%)HP:0001233
Abnormal compact bone morphology
Very frequent (80-99%)HP:0003103
Accelerated linear growth
Very frequent (80-99%)HP:0000098
Curved outermost finger bone of the hand
Very frequent (80-99%)HP:0009838
Dysplastic fingernails
Very frequent (80-99%)HP:0100798
Hypertrophy of craniofacial bones
Very frequent (80-99%)HP:0004493
Increased bone mineral density
Very frequent (80-99%)HP:0011001
Nasal deformity
Very frequent (80-99%)HP:0000366
Partial syndactyly
Very frequent (80-99%)HP:0006101
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Eye drop
Frequent (30-79%)HP:0000508
Facial muscle weakness of muscles innervated by CN VII
Frequent (30-79%)HP:0010628
Sensorineural deafness
Frequent (30-79%)HP:0000407
Optic atrophy
Occasional (5-29%)HP:0000648

Quick Facts

SNOMED CT
17568006
UMLS CUI
C0265301
Fully Specified Name
Sclerosteosis (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
14
Clinical Trials
1
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.