loading...| Preferred Name |
Acromicric dysplasia |
| Synonyms |
Acromicric skeletal dysplasia |
| ID |
http://purl.bioontology.org/ontology/MESH/C535662 |
| altLabel |
Acromicric skeletal dysplasia Acromicria Geleophysic dwarfism Geleophysic dysplasia ACMICD |
| cui |
C1386091 C0265287 C3489726 |
| HM |
D001848 D017880 |
| 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 |
T736809 T743376 T000886686 T736808 T001118273 T743377 |
| TH |
NLM (2022) ORD (2010) OMIM (2016) GHR (2014) |
| tui |
T019 |