loading...| Preferred Name | acromesomelic dysplasia | |
| Synonyms |
acromesomelic dwarfism |
|
| Definitions |
A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019696 |
|
| database_cross_reference |
MESH:C535658 UMLS:C5235036 MEDGEN:1710812 DOID:0080049 Orphanet:93437 icd11.foundation:2002361676 OMIMPS:602875 GARD:6 NORD:724 |
|
| definition |
A group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type |
|
| has_related_synonym |
acromesomelic dwarfism |
|
| IAO_0000233 | ||
| id |
MONDO:0019696 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
acromesomelic dysplasia |
|
| notation |
MONDO:0019696 |
|
| preferred label |
acromesomelic dysplasia |
|
| prefLabel |
acromesomelic dysplasia |
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| skos_exactMatch |
http://identifiers.org/mesh/C535658 https://omim.org/phenotypicSeries/PS602875 http://purl.obolibrary.org/obo/Orphanet_93437 http://linkedlifedata.com/resource/umls/id/C5235036 http://purl.obolibrary.org/obo/DOID_0080049 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/2002361676 |
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| subClassOf |