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MedlinePlus Health Topics
| Id | http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039743
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039743
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|---|---|
| Preferred Name | Dwarf, thanatophoric |
| Definitions |
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.~Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.~The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.
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| Synonyms |
Thanatophoric dysplasia
Thanatophoric short stature
Thanatophoric dwarfism
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.~Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.~The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help. |
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| altLabel |
Thanatophoric dysplasia
Thanatophoric short stature
Thanatophoric dwarfism
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| prefLabel | Dwarf, thanatophoric
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| Associated condition of | |
| DB XR ID | GTR:C1300257~GTR:C1868678~ICD-10-CM:Q77.1~MeSH:D013796~OMIM:187600~OMIM:187601~SNOMED CT:29352008~SNOMED CT:389158007
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| Inheritance | ad:Autosomal dominant
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| type | |
| tui | T047
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| notation | C0039743
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| Semantic type UMLS property | |
| cui | C0039743
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