loading...| Preferred Name | Acromicric dysplasia | |
| Synonyms |
Acromicria Acromicric skeletal dysplasia Geleophysic dwarfism ACMICD Geleophysic dysplasia |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535662 |
|
| altLabel |
Acromicria Acromicric skeletal dysplasia Geleophysic dwarfism ACMICD Geleophysic dysplasia |
|
| cui |
C1386091 C0265287 C3489726 |
|
| HM |
D017880 D001848 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100625 |
|
| MeSH Frequency |
39 |
|
| MMR |
20220216 |
|
| notation |
C535662 |
|
| prefLabel |
Acromicric dysplasia |
|
| SC |
3 |
|
| Scope Statement |
An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped EPIPHYSES, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Mutations in the FBN1 gene have been identified. OMIM: 102370 |
|
| TERMUI |
T736808 T743376 T736809 T001118273 T743377 T000886686 |
|
| TH |
NLM (2022) OMIM (2016) GHR (2014) ORD (2010) |
|
| tui |
T019 |