Aldred syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Aldred syndrome | |||
| synonyms = | |||
| pronunciation = | |||
| image = | |||
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| field = [[Medical genetics]] | |||
| symptoms = [[Short stature]], [[facial dysmorphism]], [[skeletal abnormalities]] | |||
| complications = | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = | |||
| prevention = | |||
| treatment = [[Symptomatic treatment]] | |||
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'''Aldred syndrome''' is an [[X-linked recessive]] [[genetic disorder]]. It is mainly characterized by a form of [[mental retardation]] and [[retinitis pigmentosa]]. The [[syndrome]] was first described by [[geneticist]] Micheala Aldred in 1994.<ref>{{Cite journal|last=Aldred|first=M. A.|last2=Dry|first2=K. L.|last3=Knight-Jones|first3=E. B.|last4=Hardwick|first4=L. J.|last5=Teague|first5=P. W.|last6=Lester|first6=D. H.|last7=Brown|first7=J.|last8=Spowart|first8=G.|last9=Carothers|first9=A. D.|date=November 1994|title=Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa|journal=American Journal of Human Genetics|volume=55|issue=5|pages=916–922|issn=0002-9297|pmc=1918325|pmid=7977353}}</ref> | |||
== Cause == | == Cause == | ||
Aldred syndrome is caused by a [[Deletion (genetics)|deletion]] on the p11.3 area of the [[X-chromosome]].<ref>{{Cite web|url=https://omim.org/entry/300578|title=OMIM Entry - # 300578 - CHROMOSOME Xp11.3 DELETION SYNDROME|website=omim.org|access-date=2019-04-28}}</ref> | Aldred syndrome is caused by a [[Deletion (genetics)|deletion]] on the p11.3 area of the [[X-chromosome]].<ref>{{Cite web|url=https://omim.org/entry/300578|title=OMIM Entry - # 300578 - CHROMOSOME Xp11.3 DELETION SYNDROME|website=omim.org|access-date=2019-04-28}}</ref> | ||
== References == | == References == | ||
{{reflist}} | {{reflist}} | ||
[[Category:X-linked recessive disorders]] | [[Category:X-linked recessive disorders]] | ||
{{genetic-disorder-stub}} | {{genetic-disorder-stub}} | ||
{{dictionary-stub1}} | {{dictionary-stub1}} | ||
{{No image}} | {{No image}} | ||
Latest revision as of 02:40, 4 April 2025
| Aldred syndrome | |
|---|---|
| Synonyms | |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Short stature, facial dysmorphism, skeletal abnormalities |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | |
| Prevention | |
| Treatment | Symptomatic treatment |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Aldred syndrome is an X-linked recessive genetic disorder. It is mainly characterized by a form of mental retardation and retinitis pigmentosa. The syndrome was first described by geneticist Micheala Aldred in 1994.<ref>Aldred, M. A.,
Genetic analysis of a kindred with X-linked mental handicap and retinitis pigmentosa, American Journal of Human Genetics, Vol. 55(Issue: 5), pp. 916–922, PMID: 7977353, PMC: 1918325,</ref>
Cause[edit]
Aldred syndrome is caused by a deletion on the p11.3 area of the X-chromosome.<ref>
OMIM Entry - # 300578 - CHROMOSOME Xp11.3 DELETION SYNDROME(link). omim.org.
Accessed 2019-04-28.
</ref>
References[edit]
<references group="" responsive="1"></references>
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