Mandibuloacral dysplasia
From Infogalactic: the planetary knowledge core
| Mandibuloacral dysplasia | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 248370 |
| DiseasesDB | 33029 |
| Patient UK | Mandibuloacral dysplasia |
Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.[1]:576
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| MADA | 248370 | LMNA[2] | 1q21.2 |
| MADB | 608612 | ZMPSTE24[3] | 1p34 |
See also
References
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
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