- Facial dysmorphism - intellectual deficit - short stature - hearing loss
- Laryngotracheal stenosis, arthropathy, prognathism, and short stature
- LAPS syndrome
- Growth mental deficiency syndrome of Myhre
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- 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)
The Human Phenotype Ontology provides the following list of signs and symptoms for Myhre syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Myhre syndrome. Genetics Home Reference (GHR). Januray 2013; http://ghr.nlm.nih.gov/condition/myhre-syndrome. Accessed 3/17/2014.