National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Myhre Syndrome is not the name you expected.
Myhre syndrome is an extremely rare genetic disorder characterized by short stature, unusual facial features, mild to moderate intellectual disability and various bone (skeletal) abnormalities. Characteristic facial features may include abnormally narrow skin folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), underdevelopment of the upper jaw bone (maxillary hypoplasia), and an unusually prominent jaw (prognathism). Other findings may include hearing impairment, short, stubby fingers and toes (brachydactyly), congenital heart defects, muscles that appear abnormally large (muscular pseudohypertrophy), joint stiffness, and narrowing (stenosis) of the voice box (larynx) and windpipe (trachea). Myhre syndrome is caused by mutations in the SMAD4 gene. All molecularly proven cases have been due to a de novo mutation (a new mutation that arises around the time of conception, not carried by the parents). A person with Myhre syndrome would have a 50-50 chance of transmitting this to each child.
Myhre syndrome was first described in the medical literature in 1981 by Drs. Myhre, Ruvalcaba and Graham. In 1998, Hopkin et al., reported on a condition that in 2002 would be termed (L)aryngotracheal stenosis (A)rthropathy, (P)rognathism, (S)hort stature syndrome or LAPS by Lindor et al. Researchers eventually learned that Myhre and LAPS syndromes were caused by mutations in the same gene and most likely are different expressions (variants) of the same disorder.
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 10/8/2015
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