Otospondylomegaepiphyseal dysplasia
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Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterised 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.
Descrição
Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterised 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).
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Chondrodystrophy with sensorineural deafness
Insley-Astley syndrome
Mega-epiphyseal dwarfism
Nance-Insley syndrome
Nance-Sweeney chondrodysplasia
OSMED
Oto-spondylo-megaepiphyseal dysplasia
Related patient information and medicines
Patient information leaflet
Crescimento restrito
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no... It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears. Spondo-epiphyseal dysplasia (SED). This is a.
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Esofago de Barrett
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Problemas no quadril
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of hip problems in children Developmental dysplasia do hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
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Dor nas articulações
This is different to the word artrite , which means inflammation of the joint, which causes pain and sometimes warmth, redness and/or swelling of the joint. A joint can be painful without being inflamed, or it can be both painful and inflamed. Conditions specifically affecting the hip joint in children may be ha... See the separate leaflets.
Patient information leaflet
Luxação
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Bebês prematuros
There are many reasons why babies pode be born early ou factors which may make this more likely. These include: Having more than one baby at a time (multiple pregnancy) - that is, twins, triplets, etc. Pre-eclampsia - a condition where the mother has high blood pressure. This may cause early labour or it may be deemed medically safest to deliver.
Leitura adicional e referências
- Otospondylomegaepiphyseal dysplasia; MedlinePlus, National Library of Medicine.
- Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). Am J Med Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371.
- Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kaariainen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750.
- Temtamy SA, Mannikko M, Abdel-Salam GM, Hassan NA, Ala-Kokko L, Afifi HH. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. Am J Med Genet A. 2006 Jun 1;140(11):1189-95. doi: 10.1002/ajmg.a.31205.
- van Steensel MA, Buma P, de Waal Malefijt MC, van den Hoogen FH, Brunner HG. Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene. Am J Med Genet. 1997 Jun 13;70(3):315-23. doi: 10.1002/(sici)1096-8628(19970613)70:33.3.co;2-y.
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