Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive (OSMEDB)

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Disease Ontology 12 DOID:0080026 OMIM 56 215150 OMIM Phenotypic Series 56 PS184840 KEGG 36 H02079 MeSH 43 D010009

ICD10 via Orphanet 33 Q77.7 Orphanet 58 ORPHA1427 MedGen 41 C0432210 C1855310 C4520892 SNOMED-CT via HPO 68 128601007 128602000 19888007 199879009 203598005 22066006 237836003 249710008 253549006 254080004 258211005 30288003 32958008 385522000 414564002 4602007 55033002 57048009 57676002 60700002 61960001 63567004 699014000 708670007 74370006 77507001 7890003 84445001 87979003 88565003 95320005 more UMLS 71 C1855310

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1427 Definition Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss , enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies. Epidemiology The prevalence is unknown but less than 30 cases have been described in the literature so far. Clinical description Typical facial features include midface hypoplasia, a short nose with anteverted nares and a flat nasal bridge, a long philtrum, cleft palate /bifid uvula, micrognathia , and hypertelorism. Joint pain and restricted mobility of the metacarpophalangeal joints appear during the second decade of life. The sensorineural hearing loss is generally described as moderate and nonprogressive. Early onset of osteoarthritis has also been reported. Etiology OSMED is classed among the type XI collagenopathies as the majority of reported cases have been associated with homozygous mutations in the COL11A2 gene (6p21.3), encoding the alpha2 chain of type XI collagen. Diagnostic methods Diagnosis is made on the basis of the clinical phenotype and typical radiographic findings: shortening of the long bones (humerus, radius, ulna, tibia, and fibula) with large epiphyses and metaphyseal flaring, coronal clefting and mild to moderate platyspondyly. Differential diagnosis OSMED shows significant clinical overlap with Weissenbacher-Zweymuller syndrome (WZS) and Stickler syndrome (see these terms). Whilst OSMED and Stickler syndrome can be distinguished early in life due to the absence of ocular anomalies in OSMED, differentiation of OSMED and WZS (also associated with heterozygous mutations in the COL11A2 gene) may be more problematic. Genetic counseling OSMED is inherited as an autosomal recessive trait . Management and treatment Treatment is symptomatic only, involving closure of the cleft palate, audiometry and adapted management of the hearing loss, and treatment of the joint pain. Prognosis The prognosis depends on the severity of the osteoarthritis (which may require early joint replacement), hearing loss and joint pain. Visit the Orphanet disease page for more resources.

MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive, also known as otospondylomegaepiphyseal dysplasia, is related to otospondylomegaepiphyseal dysplasia, autosomal dominant and deafness, autosomal dominant 13, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are ERK Signaling and Integrin Pathway. The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include epiphysis in, hand and foot, and related phenotypes are joint stiffness and sensorineural hearing impairment

Disease Ontology : ¹² An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results in enlargement of the located in epiphysis in located in hand and located in foot, distinct facial features, platyspondyly and hearing loss.

Genetics Home Reference : ²⁵ Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" refers to the parts of the body that this condition affects: the ears (oto-), the bones of the spine (spondylo-), and the ends (epiphyses) of long bones in the arms and legs. The features of this condition significantly overlap those of two similar conditions, Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell the conditions apart. Some researchers believe they represent a single disorder with a range of signs and symptoms. People with OSMED are often shorter than average because the long bones in their legs are unusually short. Other skeletal features include enlarged joints; short arms, hands, and fingers; and flattened bones of the spine (platyspondyly). People with the disorder often experience back and joint pain, limited joint movement, and arthritis that begins early in life. Severe high-frequency hearing loss is common in people with OSMED. Typical facial features include protruding eyes; a flattened bridge of the nose; an upturned nose with a large, rounded tip; and a small lower jaw. Almost all affected infants are born with an opening in the roof of the mouth (a cleft palate).

OMIM : ⁵⁶ Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). (215150)

KEGG : ³⁶ Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical facial features, short extremities, enlarged thick epiphyses and abnormalities in vertebral bodies, and non-progressive sensorineural hearing loss.

UniProtKB/Swiss-Prot : ⁷³ Otospondylomegaepiphyseal dysplasia, autosomal recessive: An autosomal recessive form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.

Wikipedia : ⁷⁴ Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that... more...

Clinical features from OMIM:

215150

Search NIH Clinical Center for Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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