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Myhre syndrome

Synonyms
Growth mental deficiency syndrome of Myhre; LAPS SYNDROME; LARYNGOTRACHEAL STENOSIS, ARTHROPATHY, PROGNATHISM, AND SHORT STATURE
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Myhre Syndrome
Myhre syndrome is a multisystem connective tissue disorder involving the skin and the cardiovascular, respiratory, gastrointestinal, and musculoskeletal systems. Affected individuals may experience progressive and proliferative fibrosis. Fibrosis may occur spontaneously or following trauma, invasive medical procedures, or surgery, often resulting in significant complications. Characteristic facial features are found in almost all affected individuals and are more apparent in older children and adults. Cardiovascular issues can include aortic hypoplasia and stenosis, congenital heart defects, pericardial involvement, and restrictive cardiomyopathy. Joint limitations may progress with age and resemble mild joint contractures. Most individuals have developmental delay / cognitive impairment, typically in the mild-to-moderate range. Other findings may include autism spectrum disorder, conductive or mixed hearing loss, short stature, refractive errors, premature puberty, recurrent respiratory infections, mechanical respiratory issues (choanal stenosis, laryngeal narrowing), and stenosis of the upper gastrointestinal tract.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Angela E Lin
Nicola Brunetti-Pierri
Mark E Lindsay
view full author information

Available tests

87 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (87 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DPC4, JIP, MADH4, MYHRS, SMAD4
    Summary: SMAD family member 4

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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