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- Opsismodysplasia abstract "Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development) first described by Zonana and associates in 1977, and designated under its current name by Maroteaux (1984). Derived from the Greek opsismos ("late"), the name "opsismodysplasia" describes a delay in bone maturation. In addition to this delay, the disorder is characterized by micromelia (short or undersized bones), particularly of the hands and feet, delay of ossification (bone cell formation), platyspondyly (flattened vertebrae), irregular metaphyses, an array of facial aberrations and respiratory distress related to chronic infection. Opsismodysplasia is congenital, being apparent at birth. It has a variable mortality, with some affected individuals living to adulthood. The disorder is rare, with an incidence of less than 1 per 1,000,000 worldwide. It is inherited in an autosomal recessive pattern, which means the defective (mutated) gene that causes the disorder is located on an autosome, and the disorder occurs when two copies of this defective gene are inherited. No specific gene has been found to be associated with the disorder. It is similar to spondylometaphyseal dysplasia, Sedaghatian type.".
- Opsismodysplasia diseasesdb "31936".
- Opsismodysplasia icd10 "Q77.8".
- Opsismodysplasia omim "258480".
- Opsismodysplasia thumbnail Gray79.png?width=300.
- Opsismodysplasia wikiPageID "31513765".
- Opsismodysplasia wikiPageRevisionID "553714349".
- Opsismodysplasia diseasesdb "31936".
- Opsismodysplasia hasPhotoCollection Opsismodysplasia.
- Opsismodysplasia icd "Q77.8".
- Opsismodysplasia omim "258480".
- Opsismodysplasia subject Category:Autosomal_recessive_disorders.
- Opsismodysplasia subject Category:Congenital_disorders.
- Opsismodysplasia subject Category:Rare_diseases.
- Opsismodysplasia subject Category:Skeletal_disorders.
- Opsismodysplasia type Abnormality114501726.
- Opsismodysplasia type Abstraction100002137.
- Opsismodysplasia type Anomaly114505821.
- Opsismodysplasia type Attribute100024264.
- Opsismodysplasia type AutosomalRecessiveDisorders.
- Opsismodysplasia type BirthDefect114465048.
- Opsismodysplasia type Condition113920835.
- Opsismodysplasia type CongenitalDisorders.
- Opsismodysplasia type Defect114464005.
- Opsismodysplasia type Disorder114052403.
- Opsismodysplasia type Imperfection114462666.
- Opsismodysplasia type PhysicalCondition114034177.
- Opsismodysplasia type SkeletalDisorders.
- Opsismodysplasia type State100024720.
- Opsismodysplasia type Disease.
- Opsismodysplasia type Situation.
- Opsismodysplasia comment "Opsismodysplasia is a type of skeletal dysplasia (a bone disease that interferes with bone development) first described by Zonana and associates in 1977, and designated under its current name by Maroteaux (1984). Derived from the Greek opsismos ("late"), the name "opsismodysplasia" describes a delay in bone maturation.".
- Opsismodysplasia label "Opsismodysplasia".
- Opsismodysplasia sameAs m.0glrtn8.
- Opsismodysplasia sameAs Q7098730.
- Opsismodysplasia sameAs Q7098730.
- Opsismodysplasia sameAs Opsismodysplasia.
- Opsismodysplasia wasDerivedFrom Opsismodysplasia?oldid=553714349.
- Opsismodysplasia depiction Gray79.png.
- Opsismodysplasia isPrimaryTopicOf Opsismodysplasia.
