Hanhart syndrome
 | This article includes a list of references, related reading or external links, but its sources remain unclear because it lacks inline citations. (October 2017) |
| Hanhart syndrome | |
|---|---|
| Other names | Hypoglossia-hypodactyly syndrome |
| Causes | Unknown[1] |
Hanhart syndrome (also known as Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with micrognathia) is a congenital disorder that causes an undeveloped tongue and malformed extremities and fingers.
Causes[]
The cause of OLHS is unknown but both genetic and environment factors have been proposed.[3]
Notable cases[]
- Nick Santonastasso, actor, Instagram star, and YouTube prankster, who has no legs and only one arm. Noted for playing zombies.[4][5]
References[]
- ^ "Hanhart Syndrome". NORD (National Organization for Rare Disorders). Retrieved 24 August 2019.
- ^ rarediseases.org.
- ^ Bersu, Edward T; Pettersen, James C; Charboneau, William J; Opitz, John M (1976). "Studies of malformation syndromes of man XXXXIA: Anatomical studies in the Hanhart syndrome ?A pathogenetic hypothesis". European Journal of Pediatrics. 122 (1): 1–17. doi:10.1007/BF00445029. PMID 1261565. S2CID 10440385.
- ^ "Bodybuilder with one arm and no legs becomes internet sensation". The Independent. 20 July 2017.
- ^ "'Dead' man living: Disabled teen-turned-Internet star 'lives by inspiring others'". Today. October 2016.
- Hanhart syndrome Genetic and Rare Diseases Information Center (GARD)
- Herrmann, J; Pallister, P. D; Gilbert, E. F; Viseskul, C; Bersu, E; Pettersen, J. C; Opitz, J. M (1976). "Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome". European Journal of Pediatrics. 122 (1): 19–55. doi:10.1007/BF00445030. PMID 1261566. S2CID 23498856.
- Goyal, M; Singh, A; Singh, P; Kapoor, S (2014). "Hypoglossia-hypodactyly syndrome with short stature - a case report". Journal of Clinical and Diagnostic Research. 8 (4): SD01–2. doi:10.7860/JCDR/2014/7809.4281 (inactive 31 October 2021). PMC 4064859. PMID 24959494.
{{cite journal}}: CS1 maint: DOI inactive as of October 2021 (link) - Hypoglossia-hypodactyly syndrome. Orphanet. July 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=989
- Hanhart Syndrome. NORD. February 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1022/viewAbstract
- HYPOGLOSSIA-HYPODACTYLIA. OMIM. September 2012; http://www.omim.org/entry/103300
- Gathwala, Geeta; Singh, Jagjit; Dalal, Poonam; Garg, Ajay (2011). "Hypoglossia-hypodactyly syndrome in a newborn". Journal of Cranio-Maxillofacial Surgery. 39 (2): 99–101. doi:10.1016/j.jcms.2010.06.007. PMID 20673638.
Categories:
- Musculoskeletal disorders
- Congenital disorders of musculoskeletal system
- Rare syndromes
- Syndromes affecting the tongue
- Syndromes with dysmelia