Gerodermia osteodysplastica

Gerodermia osteodysplastica
Other namesGeroderma osteodysplasticum and Walt Disney dwarfism[1]
Gerodermia osteodysplastica has an autosomal recessive pattern of inheritance.
SpecialtyMedical genetics Edit this on Wikidata

Gerodermia osteodysplastica (GO) is a rare autosomal recessive[2] connective tissue disorder included in the spectrum of cutis laxa syndromes.[2][3]

This condition is inherited in an autosomal recessive pattern and leads to a range of skeletal abnormalities and skin changes.[4]

Usage of the name "Walt Disney dwarfism" is attributed to the first known case of the disorder, documented in a 1950 journal report, in which the authors described five affected members from a Swiss family as having the physical appearance of dwarves from a Walt Disney film.[5][6]

The terms "geroderma" or "gerodermia" can be used interchangeably with "osteodysplastica" or "osteodysplasticum", with the term "hereditaria" sometimes appearing at the end.[1][7]

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 231070
  2. ^ a b Paul R, Kapoor S, Puri R, Bijarnia S (Dec 2004). "Gerodermia Osteodysplastica". Indian J. Pediatr. 71 (12): e77–79. PMID 15630332.
  3. ^ Nappi C, Greco E, Anichini C, Guerra G, Di Spiezio Sardo A (Jan 2008). "Pregnancy in a gerodermia ostedysplastica patient: a case report". Am. J. Obstet. Gynecol. 198 (1): e17–19. doi:10.1016/j.ajog.2007.09.037. PMID 18166294.
  4. ^ Hennekam, Raoul C. M; Van Den Boogaard, Marie-Jose; Sibbles, Barbara J.; Van Spijker, Hilda G. (2005-06-06). "Rubinstein-Taybi syndrome in the Netherlands". American Journal of Medical Genetics. 37 (S6): 17–29. doi:10.1002/ajmg.1320370604. ISSN 0148-7299.
  5. ^ Bamatter F, Franceschetti A, Klein D, Sierro A (1950). "Gerodermie osteodysplastique hereditaire". Annales Paediatrici. 174 (4): 126–127. doi:10.1177/0011128707308160. S2CID 140963177.
  6. ^ Hunter AG, Martsolf JT, Baker CG, Reed MH (Feb 1978). "Geroderma osteodysplastica. A report on two affected families". Hum. Genet. 40 (3): 311–324. doi:10.1007/BF00272192. PMID 631850. S2CID 19438949.
  7. ^ Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S (Apr 2008). "Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman". Am. J. Med. Genet. A. 146A (8): 965–976. doi:10.1002/ajmg.a.32143. PMID 18348262. S2CID 25583401.