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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Myhre syndrome


Other Names for this Disease

  • Facial dysmorphism - intellectual deficit - short stature - hearing loss
  • Growth mental deficiency syndrome of Myhre
  • LAPS syndrome
  • Laryngotracheal stenosis, arthropathy, prognathism, and short stature
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Symptoms

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What are the symptoms of Myhre syndrome?

Myhre syndrome is a condition with features affecting many systems and functions of the body. Associated findings might include:[1]
  • Delayed development of language and motor skills such as crawling and walking
  • Intellectual disability that ranges from mild to moderate
  • Behavioral issues such as features of autism or related developmental disorders affecting communication and social interaction
  • Hearing loss, which can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss)
  • Reduced growth, beginning before birth and continuing through adolescence and affecting weight and height (many are shorter than about 97 percent of their peers)
  • Stiffness of the skin resulting in a muscular appearance
  • Skeletal abnormalities including thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, underdevelopment of the winglike structures of the pelvis (hypoplastic iliac wings), and unusually short fingers and toes (brachydactyly)
  • Joint problems (arthropathy), including stiffness and limited mobility
  • Typical facial features including narrow openings of the eyelids (short palpebral fissures), a shortened distance between the nose and upper lip (a short philtrum), a sunken appearance of the middle of the face (midface hypoplasia), a small mouth with a thin upper lip, and a protruding jaw (prognathism)
  • An opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both
  • Constriction of the throat (laryngotracheal stenosis)
  • High blood pressure (hypertension)
  • Heart or eye abnormalities
  • In males, undescended testes (cryptorchidism)
Last updated: 3/17/2014

References
  1. Myhre syndrome. Genetics Home Reference (GHR). Januray 2013; http://ghr.nlm.nih.gov/condition/myhre-syndrome. Accessed 3/17/2014.


Other Names for this Disease
  • Facial dysmorphism - intellectual deficit - short stature - hearing loss
  • Growth mental deficiency syndrome of Myhre
  • LAPS syndrome
  • Laryngotracheal stenosis, arthropathy, prognathism, and short stature
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.