acromesomelic dysplasia
http://purl.obolibrary.org/obo/MONDO_0019696
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 [ https://orcid.org/0000-0001-5208-3432 GARD:0000006 ]
Term info
- MESH:C535658 (Orphanet:93437/e)
- DOID:0080049 (MONDO:equivalentTo)
- OMIMPS:602875 (MONDO:equivalentTo)
- Orphanet:93437 (MONDO:equivalentTo)
- GARD:0000006 (MONDO:equivalentTo)
gard_rare, disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/4948
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
https://omim.org/phenotypicSeries/PS602875, http://identifiers.org/mesh/C535658, http://purl.obolibrary.org/obo/DOID_0080049, http://purl.obolibrary.org/obo/Orphanet_93437
acromesomelic dwarfism
MONDO:0019696