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Langer-Giedion syndrome

disorder
SNOMED 41069008CUI C0023003

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.

Scoliosis
Always present (100%)HP:0002650
Bone pain
Very frequent (80-99%)HP:0002653
Bulbous nasal tip
Very frequent (80-99%)HP:0000414
Cone-shaped epiphyses of the fingers
Very frequent (80-99%)HP:0010230
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Depressed philtrum
Very frequent (80-99%)HP:0002002
Formation of new noncancerous bone on top of existing bone
Very frequent (80-99%)HP:0100777
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Multiple long-bone exostoses
Very frequent (80-99%)HP:0005039
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Protruding ear
Very frequent (80-99%)HP:0000411
Thinning scalp hair
Very frequent (80-99%)HP:0002209
Aplasia/Hypoplasia of the mandible
Frequent (30-79%)HP:0009118
Generalized elastolysis
Frequent (30-79%)HP:0000973
Gynaecomastia
Frequent (30-79%)HP:0000771
Increased size of mandible
Frequent (30-79%)HP:0000303
Joint dislocation
Frequent (30-79%)HP:0001373
Loose redundant skin
Frequent (30-79%)HP:0001582
Loose-jointedness
Frequent (30-79%)HP:0001382
Low intelligence
Frequent (30-79%)HP:0001249
Low-set ears
Frequent (30-79%)HP:0000369
Missing scalp hair
Frequent (30-79%)HP:0002293
Near sighted
Frequent (30-79%)HP:0000545
Pectus excavatum
Frequent (30-79%)HP:0000767
Permanent curving of the pinkie finger
Frequent (30-79%)HP:0004209
Pulmonary infections
Frequent (30-79%)HP:0006532
Thick eyebrow
Frequent (30-79%)HP:0000574
Thoracolumbar scoliosis
Frequent (30-79%)HP:0002944

Related Conditions

Trichorhinophalangeal syndrome(parent)
Disorder characterised by multiple exostoses(parent)
Congenital anomaly of skeletal bone(parent)
Abnormality of limb bone morphology(parent)

Quick Facts

SNOMED CT
41069008
UMLS CUI
C0023003
Fully Specified Name
Langer-Giedion 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.