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OSMEDA
MCID: OTS014
MIFTS: 52
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Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant (OSMEDA)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:58
autosomal dominant otospondylomegaepiphyseal dysplasia
Inheritance: Autosomal dominant; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
allelic to osmed and weissenbacher-zweymuller syndrome also called 'heterozygous osmed' and 'autosomal dominant osmed' HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Bone diseases
ICD10:
32
Orphanet: 58
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis External Ids:
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Genetics Home Reference :
25
Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) 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 them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms.
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate).
Most people with Weissenbacher-Zweymüller syndrome experience significant "catch-up" growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.
MalaCards based summary : Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant, also known as weissenbacher-zweymuller syndrome, is related to otospondylomegaepiphyseal dysplasia, autosomal recessive and vitreoretinal degeneration, and has symptoms including arthralgia An important gene associated with Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant is COL11A2 (Collagen Type XI Alpha 2 Chain), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Cobalt and Levobupivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone and eye, and related phenotypes are sensorineural hearing impairment and arthralgia Disease Ontology : 12 An osteochondrodysplasia that results in shortened long bones and distinct facial abnormalities. OMIM : 56 Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994). (184840) UniProtKB/Swiss-Prot : 73 Otospondylomegaepiphyseal dysplasia, autosomal dominant: An autosomal dominant 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 Weissenbacher-Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia,... more... |
Human phenotypes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:184840UMLS symptoms related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:arthralgia |
Drugs for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:(show all 12)
Cochrane evidence based reviews: pierre robin syndrome |
MalaCards organs/tissues related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:40
Bone,
Eye
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Articles related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:(show all 15)
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Genes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:6 (show top 50) (show all 160)
UniProtKB/Swiss-Prot genetic disease variations for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant:73
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GEO
for disease gene expression data for Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant.
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Pathways related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:
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Cellular components related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant according to GeneCards Suite gene sharing:
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