Myhre Syndrome

External Ids:

OMIM 57 139210 Orphanet 59 ORPHA2588 UMLS via Orphanet 74 C0796081 ICD10 via Orphanet 34 Q87.8 MedGen 42 C0796081

MeSH 44 D006130 D008607 KEGG 37 H02102 SNOMED-CT via HPO 69 263681008 396232000 204878001 406477003 204888000 48130008 14582003 43437003 18910001 253983005 66948001 301348000 271611007 109504005 22810007 194021007 22006008 103276001 15188001 343087000 95828007 95515009 95427009 128602000 22066006 246923005 80093006 11934000 128306009 193570009 247053007 38101003 204108000 61142002 25786006 277843001 408856003 408857007 43614003 24184005 38341003 123527003 400179000 17417006 69943009 43476002 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 224958001 84445001 199612005 22033007 414915002 414916001 83330001 60573004 253273004 396351009 59494005 7305005 373945007 203541003 247546006 409622000 274523007 237836003 237837007 422065006 205145001 35045004 249765007 29271008 246802000 17268007 109622003 304067009 50063009 more UMLS 73 C0796081

NIH Rare Diseases : ⁵³ 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.

MalaCards based summary : Myhre Syndrome, also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, is related to van allen myhre syndrome and ruvalcaba churesigaew myhre 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, skin and lung, and related phenotypes are abnormality of epiphysis morphology and ptosis

Genetics Home Reference : ²⁵ Myhre syndrome is a condition involving short stature, characteristic facial features, hearing loss, limited joint mobility, a buildup of scar tissue (fibrosis) in the skin and internal organs, and other problems affecting multiple body systems. Affected individuals often have problems with the heart and blood vessels (cardiovascular system), the lungs and airways (respiratory system), and the skeletal system. The cardiovascular and respiratory problems gradually get worse and can lead to potentially life-threatening complications. Cancer also occasionally occurs in Myhre syndrome.

OMIM : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ 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.