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McCune Albright syndrome

disorder
SNOMED 726029005CUI C0242292

Overview

McCune Albright 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.

Sclerotic ilium
Always present (100%)HP:6000869
Abnormal endocrine physiology
Very frequent (80-99%)HP:0031072
Cystic ovaries
Very frequent (80-99%)HP:0000138
Large cafe-au-lait macules with irregular margins
Very frequent (80-99%)HP:0005605
Precocious puberty
Very frequent (80-99%)HP:0000826
Abnormal skull base morphology
Frequent (30-79%)HP:0002693
Abnormality of the thighbone
Frequent (30-79%)HP:0002823
Anomaly of facial skeleton
Frequent (30-79%)HP:0011821
Anomaly of the testes
Frequent (30-79%)HP:0000035
Early bone maturation
Frequent (30-79%)HP:0005616
Fibrous dysplasia of the bones
Frequent (30-79%)HP:0010734
Growth abnormality
Frequent (30-79%)HP:0001507
High serum testosterone level
Frequent (30-79%)HP:0030088
Hyperthyroidism
Frequent (30-79%)HP:0000836
Large testis
Frequent (30-79%)HP:0000053
Monostotic fibrous dysplasia
Frequent (30-79%)HP:0010736
Renal tubular dysfunction
Frequent (30-79%)HP:0000124
Scoliosis
Frequent (30-79%)HP:0002650
Thyroid disease
Frequent (30-79%)HP:0000820
Abnormal sexual behavior
Occasional (5-29%)HP:0008768
Abnormality of the face
Occasional (5-29%)HP:0000271
Angle class 2 malocclusion
Occasional (5-29%)HP:0000689
Bone fracture
Occasional (5-29%)HP:0020110
Bone pain
Occasional (5-29%)HP:0002653
Decreased fertility
Occasional (5-29%)HP:0000144
Elevated circulating growth hormone concentration
Occasional (5-29%)HP:0000845
Gastro-esophageal reflux
Occasional (5-29%)HP:0002020
Hearing impairment
Occasional (5-29%)HP:0000365
Hepatic adenoma
Occasional (5-29%)HP:0012028
Hyperplasia of the Leydig cells
Occasional (5-29%)HP:0010791

Related Conditions

Fibrous dysplasia of bone(parent)
Multiple system malformation syndrome(parent)
Cafe-au-lait spots(parent)
Precocious puberty(parent)
Congenital pigmentary skin anomalies(parent)

Quick Facts

SNOMED CT
726029005
UMLS CUI
C0242292
Fully Specified Name
McCune Albright 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.