Ablepharon macrostomia syndrome: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
m Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}) |
||
| (One intermediate revision by the same user not shown) | |||
| Line 14: | Line 14: | ||
}} | }} | ||
{{SI}} | {{SI}} | ||
==Overview== | ==Overview== | ||
'''Ablepharon macrostomia syndrome''' ('''AMS''') is an extremely rare [[autosomal recessive]] [[genetic disorder]] characterized by malformations of the [[skull]], skin, fingers and [[genital]]s.<ref name="pmid11038439">{{cite journal |author=Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM |title=Ablepharon-macrostomia syndrome: first report of familial occurrence |journal=Am. J. Med. Genet. |volume=94 |issue=4 |pages=281–3 |year=2000 |month=October |pmid=11038439|doi=10.1002/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-S}}</ref> Affected individuals may also have malformations of the nipples and [[abdominal wall]]. | '''Ablepharon macrostomia syndrome''' ('''AMS''') is an extremely rare [[autosomal recessive]] [[genetic disorder]] characterized by malformations of the [[skull]], skin, fingers and [[genital]]s.<ref name="pmid11038439">{{cite journal |author=Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM |title=Ablepharon-macrostomia syndrome: first report of familial occurrence |journal=Am. J. Med. Genet. |volume=94 |issue=4 |pages=281–3 |year=2000 |month=October |pmid=11038439|doi=10.1002/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-S}}</ref> Affected individuals may also have malformations of the nipples and [[abdominal wall]]. | ||
| Line 30: | Line 30: | ||
==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
{{Phakomatoses and other congenital malformations not elsewhere classified}} | {{Phakomatoses and other congenital malformations not elsewhere classified}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Latest revision as of 14:06, 4 September 2012
| Ablepharon macrostomia syndrome | |
| ICD-10 | GroupMajor.minor |
|---|---|
| ICD-9 | xxx |
| OMIM | 200110 |
| DiseasesDB | 33818 |
Overview
Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals.[1] Affected individuals may also have malformations of the nipples and abdominal wall.
Younger individuals might experience language difficulties, and in some instances mental retardation is known.
Genetics
It has been suggested that Ablepharon Macrostomia Syndrome is inherited as an autosomal recessive genetic trait.[2]
See also
References
- ↑ Ferraz VE, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM (2000). "Ablepharon-macrostomia syndrome: first report of familial occurrence". Am. J. Med. Genet. 94 (4): 281–3. doi:10.1002/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-S. PMID 11038439. Unknown parameter
|month=ignored (help) - ↑ NORD - National Organization for Rare Disorders, Inc
Template:Phakomatoses and other congenital malformations not elsewhere classified