Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

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

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.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of pelvic girdle bone morphology 90%
Abnormality of the ribs 90%
Brachydactyly syndrome 90%
Cognitive impairment 90%
Craniofacial hyperostosis 90%
Hearing impairment 90%
Intrauterine growth retardation 90%
Limitation of joint mobility 90%
Malar flattening 90%
Mandibular prognathia 90%
Muscle hypertrophy 90%
Narrow mouth 90%
Platyspondyly 90%
Short philtrum 90%
Short stature 90%
Thin vermilion border 90%
Abnormality of the cardiac septa 50%
Abnormality of the epiphyses 50%
Abnormality of the metaphyses 50%
Blepharophimosis 50%
Cryptorchidism 50%
EMG abnormality 50%
Hypermetropia 50%
Hypertension 50%
Ptosis 50%
Thickened skin 50%
Behavioral abnormality 7.5%
Cataract 7.5%
Cleft palate 7.5%
Displacement of the external urethral meatus 7.5%
Hernia of the abdominal wall 7.5%
Non-midline cleft lip 7.5%
Precocious puberty 7.5%
Ataxia 5%
Microphthalmos 5%
Obesity 5%
Oral cleft 5%
Respiratory failure 5%
Respiratory insufficiency 5%
2-3 toe syndactyly -
Abnormality of the cardiac septa -
Abnormality of the voice -
Aortic valve stenosis -
Autism -
Autosomal dominant inheritance -
Blepharophimosis -
Broad ribs -
Camptodactyly -
Clinodactyly -
Coarctation of aorta -
Cone-shaped epiphysis -
Cryptorchidism -
Deeply set eye -
Enlarged vertebral pedicles -
Fine hair -
Generalized muscle hypertrophy -
Hearing impairment -
Hypermetropia -
Hypertelorism -
Hypertension -
Hypoplasia of the maxilla -
Hypoplastic iliac wings -
Intellectual disability -
Intrauterine growth retardation -
Laryngotracheal stenosis -
Limitation of joint mobility -
Low-set ears -
Malar flattening -
Mandibular prognathia -
Microtia -
Midface retrusion -
Narrow mouth -
Overlapping toe -
Patent ductus arteriosus -
Pericardial effusion -
Platyspondyly -
Prominent nasal bridge -
Radial deviation of finger -
Seizures -
Short finger -
Short long bones -
Short neck -
Short philtrum -
Short stature -
Short toe -
Sparse hair -
Stiff skin -
Strabismus -
Thick eyebrow -
Thickened calvaria -
Thickened skin -
Vertebral fusion -

Last updated: 11/3/2014

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.


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.