Myhre Syndrome (MYHRS)

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OMIM 56 139210 KEGG 36 H02102 MeSH 43 D006130 D008607 ICD10 via Orphanet 33 Q87.8 UMLS via Orphanet 72 C0796081

Orphanet 58 ORPHA2588 MedGen 41 C0796081 SNOMED-CT via HPO 68 103276001 109504005 109622003 11934000 123527003 128306009 128602000 128613002 14582003 15188001 17268007 17417006 18910001 193570009 194021007 199612005 203541003 204108000 204878001 204888000 205145001 22006008 22033007 22066006 224958001 22810007 228156007 237836003 237837007 24184005 246545002 246802000 246923005 247053007 247546006 247578003 249765007 253273004 253366007 253549006 25786006 263681008 267258002 271611007 274523007 276610007 277843001 29271008 301348000 30288003 304067009 313307000 343087000 35045004 373945007 38101003 38341003 396232000 396351009 400179000 405752007 406477003 408856003 408857007 409622000 414915002 414916001 422065006 43437003 43476002 43614003 48130008 50063009 53602002 56558005 59494005 60573004 61142002 63567004 69943009 70142008 7305005 80093006 83330001 84445001 84757009 85102008 87979003 91138005 91175000 95427009 95515009 95828007 more UMLS 71 C0796081

Genetics Home Reference : ²⁵ Myhre syndrome is a rare condition that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body. Myhre syndrome has a variety of signs and symptoms that affect many parts of the body, though not everyone has all the possible features. The features of the condition can range in severity, and some features become more apparent with age. Common signs and symptoms of Myhre syndrome include short stature, skeletal abnormalities, limited joint mobility, characteristic facial features, intellectual and behavioral problems, hearing loss, a tendency for the buildup of scar tissue (fibrosis) in the skin and internal organs, and heart and lung abnormalities. Growth is reduced in most people with Myhre syndrome, beginning before birth and continuing through adolescence. Affected individuals usually have a low birth weight and are generally shorter than about 97 percent of their peers throughout life. They have shortened long bones of the arms and legs, unusually short fingers and toes (brachydactyly), and curved pinky fingers (fifth finger clinodactyly). Other skeletal abnormalities associated with this disorder include thickening of the skull bones, flattened bones of the spine (platyspondyly), broad ribs, and underdevelopment of the wing-shaped structures of the pelvis (hypoplastic iliac wings). Affected individuals often have joint problems (arthropathy), including stiffness and limited mobility. Typical facial features in people with Myhre syndrome include narrow openings of the eyelids (short palpebral fissures), deeply set eyes, a shortened distance between the nose and upper lip (a short philtrum), a narrow mouth with a thin upper lip, an underdeveloped upper jaw, and a protruding lower jaw (prognathism). Some affected individuals are born with an opening in the roof of the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Vision problems are common in this disorder and can include eyes that do not point in the same direction (strabismus), nearsightedness (myopia), farsightedness (hyperopia), an irregular curvature of the front of the eye (astigmatism), clouding of the lenses (cataracts), or rarely, an abnormality of the back of the eye called pseudopapilledema. Children with Myhre syndrome have delayed development, which is noticeable by age 5. Speech and language delay are the most significant. Motor skills such as crawling and walking may be delayed, although children with Myhre syndrome eventually learn to walk. Most affected individuals have intellectual disability that ranges from mild to moderate, yet some are able to have jobs or pursue higher education. People with Myhre syndrome typically have behavioral problems like those in autism spectrum disorder, which affects communication and social interaction. These problems vary in severity, and they usually improve over time. Hearing loss occurs in most people with Myhre syndrome, usually beginning in childhood and gradually worsening. If not detected promptly, hearing problems can contribute to learning and behavioral problems. Fibrosis in Myhre syndrome can occur in the absence of injury (spontaneously) or develop following surgery or trauma. Affected individuals typically have stiff, thickened skin, usually beginning in childhood. Typically, the skin changes first appear on the palms of the hands, the soles of the feet, the back of the elbows, and the front of the knees. Eventually the skin thickens on other parts of the body. As a result of the thicker skin, affected individuals typically have fewer facial creases (wrinkles) than others of their age. Scars may be more noticeable or become unusually thickened after healing (keloids or hypertrophic scars). Individuals with Myhre syndrome often have problems with the structure of the heart that are present at birth (congenital heart defects). Fibrosis in the heart and blood vessels (cardiovascular system) can lead to the development of additional problems such as high blood pressure (hypertension) and narrowing (stenosis) of the heart valves or blood vessels. Other cardiovascular problems can include swelling and tightening of the pericardium, which is the membrane that surrounds the heart (pericarditis), and rarely, restrictive cardiomyopathy, in which the heart muscle is stiff and cannot fully relax after each contraction. These cardiovascular problems can be life-threatening. Abnormalities of the lungs and airways (respiratory tract) in people with Myhre syndrome include narrowing of the windpipe (laryngotracheal stenosis) and the passages leading from the windpipe to the lungs (bronchi); difficulty filling the lungs with air when inhaling (restrictive pulmonary disease); or widespread lung damage (interstitial lung disease). These respiratory tract problems can be life-threatening. Additional features of Myhre syndrome include problems in the gastrointestinal tract, such as narrowing of the lower part of the stomach (pyloric stenosis) or of the upper part of the small intestine (duodenal strictures) and severe constipation. People with Myhre syndrome also may have an increased risk of developing cancerous or noncancerous tumors, including cancer of the lining of the uterus (endometrial cancer).

MalaCards based summary : Myhre Syndrome, also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, is related to ruvalcaba churesigaew myhre syndrome and chromosome 8q22.1 duplication syndrome, and has symptoms including thick skin An important gene associated with Myhre Syndrome is SMAD4 (SMAD Family Member 4), and among its related pathways/superpathways are Cell cycle and Wnt signaling pathway. Affiliated tissues include heart, bone and skin, and related phenotypes are hearing impairment and intellectual disability

NIH Rare Diseases : ⁵² Myhre syndrome is a rare, connective tissue disorder that affects many parts of the body. Signs and symptoms include fibrosis (thickening and scarring of connective tissue ), intellectual disability , distinctive facial features, skeletal abnormalities, and/or various birth defects . The syndrome may affect the structure or function of the heart, the respiratory system, the gastrointestinal system, and the skin. Myhre syndrome is caused by a mutation in the SMAD4 gene . The mutation typically occurs for the first time in an affected person. To date, no reported cases have been inherited from a parent. Inheritance is autosomal dominant , but there are no reported cases of a person with Myhre syndrome having children. Treatment addresses each symptom present and may include limiting the risk of trauma to tissues, surgery for birth defects or complications, and routine management of learning delays or behavioral problems.

OMIM : ⁵⁶ Myhre syndrome is a rare disorder characterized by mental retardation, dysmorphic facial features, including microcephaly, midface hypoplasia, prognathism, and blepharophimosis, typical skeletal anomalies, including short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria, and cardiovascular defects with a striking fibroproliferative response to surgical intervention. All reported cases have been sporadic (summary by Bachmann-Gagescu et al., 2011 and Lin et al., 2016). (139210)

KEGG : ³⁶ Myhre syndrome is a developmental disorder characterized by reduced growth, generalized muscular hypertrophy, facial dysmorphism, deafness, cognitive deficits, joint stiffness, and skeletal anomalies. Heterozygous missense mutations in SMAD4 cause this disease. SMAD4 plays a pivotal role in the bone morphogenetic pathway and TGF-beta signaling.

UniProtKB/Swiss-Prot : ⁷³ Myhre syndrome: A syndrome characterized by pre- and postnatal growth deficiency, mental retardation, generalized muscle hypertrophy and striking muscular build, decreased joint mobility, cryptorchidism, and unusual facies. Dysmorphic facial features include microcephaly, midface hypoplasia, prognathism, and blepharophimosis. Typical skeletal anomalies are short stature, square body shape, broad ribs, iliac hypoplasia, brachydactyly, flattened vertebrae, and thickened calvaria. Other features, such as congenital heart disease, may also occur.

Wikipedia : ⁷⁴ Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by... more...

GeneReviews: NBK425723

Clinical features from OMIM:

139210

Search Clinical Trials , NIH Clinical Center for Myhre Syndrome

Search GEO for disease gene expression data for Myhre Syndrome.