Myhre Syndrome (MYHRS)

Alias:

Facial Dysmorphism-Intellectual Disability-Short Stature-Hearing Loss Syndrome

Facial Dysmorphism-Intellectual Disability-Short Stature-Deafness Syndrome

Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature

Growth-Mental Deficiency Syndrome of Myhre

Growth Mental Deficiency Syndrome of Myhre

Laps Syndrome

Myhrs

Laryngotracheal Stenosis, Arthropathy, Prognathism, Short Stature Syndrome

Myhre-Laps Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myhre Syndrome, also known as facial dysmorphism-intellectual disability-short stature-hearing loss syndrome, is related to aortic aneurysm, familial thoracic 4 and familial thoracic aortic aneurysm and aortic dissection, and has symptoms including thick skin An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Epithelial to mesenchymal transition in colorectal cancer. Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and hearing impairment

Related ID：

MALACARDS：MYH012

OMIM：139210

MESH：D006130