Myhre syndrome

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.

Total: 2

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PMID (PMCID)
15057124	FEMALE
	Second female case of Myhre syndrome.
	Lopez-Cardona MG, Garcia-Cruz D, Garcia-Ortiz JE, Davalos NO, Feria-Velasco A, Rodriguez-Rojas LX, Garcia-Cruz MO, Figuera-Villanueva LE, Stephens A, Larios-Arceo F, Sanchez-Corona J. Clin Dysmorphol. 2004;13(2):91-4.
	Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness.
11568925	MALE
	Case of Myhre syndrome with autism and peculiar skin histological findings.
	Titomanlio L, Marzano MG, Rossi E, D'Armiento M, De Brasi D, Vega GR, Andreucci MV, Orsini AV, Santoro L, Sebastio G. Am J Med Genet. 2001;103(2):163-5.
	Myhre syndrome (MS) (MIM 139210) is a rare disorder characterized by short stature, mental retardation, muscular build, blepharophimosis, and decreased joint mobility.