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Hutchinson-Gilford syndrome

Synonyms
Hutchinson-Gilford Progeria Syndrome; Progerin-producing progeroid laminopathy; Progeroid Laminopathies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome (HGPS) is characterized by clinical features that typically develop in childhood and resemble some features of accelerated aging. Children with HGPS usually appear normal at birth. Profound failure to thrive occurs during the first year. Characteristic facial features include head that is disproportionately large for the face, narrow nasal ridge, narrow nasal tip, thin vermilion of the upper and lower lips, small mouth, and retro- and micrognathia. Common features include loss of subcutaneous fat, delayed eruption and loss of primary teeth, abnormal skin with small outpouchings over the abdomen and upper thighs, alopecia, nail dystrophy, coxa valga, and progressive joint contractures. Later findings include low-frequency conductive hearing loss, dental crowding, and partial lack of secondary tooth eruption. Motor and mental development is normal. Death occurs as a result of complications of severe atherosclerosis, either cardiac disease (myocardial infarction or heart failure) or cerebrovascular disease (stroke), generally between ages six and 20 years (average 14.5 years) without lonafarnib treatment or cardiac surgery intervention. Average life span is extended to approximately 17-19.5 years with lonafarnib therapy.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Leslie B Gordon
W Ted Brown
Francis S Collins
view full author information

Available tests

104 tests are in the database for this condition.

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Clinical tests (101 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, MADA, PRO1, LMNA
    Summary: lamin A/C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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