Young Simpson syndrome: Difference between revisions
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Other symptoms include transient hypothyroidism, macular degeneration and [[torticollis]].<ref>{{cite journal |author=Kondoh T, Kinoshita E, Moriuchi H, Niikawa N, Matsumoto T, Masuno M |title=Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis |journal=Am J Med Genet. |volume=90 |issue=1 |pages=85–6 |year=2000 |month=Jan |pmid=10602125 |doi=10.1002/(SICI)1096-8628(20000103)90:1<85::AID-AJMG17>3.0.CO;2-R}}</ref> The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome.<ref>{{cite journal |author=Young ID, Simpson K |title=Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation |journal=J Med Genet. |volume=24 |issue=11 |pages=715–6 |year=1987 |month=Nov |pmid=3430551 |pmc=1050356 }}</ref><ref name=NCBI>{{cite journal |author=Nakamura T, Noma S |title=A Japanese boy with Young-Simpson syndrome |journal=Acta Paediatr Jpn |volume=39 |issue=4 |pages=472–4 |year=1997 |month=Aug |pmid=9316295 }}</ref> A individual with | Other symptoms include transient hypothyroidism, macular degeneration and [[torticollis]].<ref>{{cite journal |author=Kondoh T, Kinoshita E, Moriuchi H, Niikawa N, Matsumoto T, Masuno M |title=Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis |journal=Am J Med Genet. |volume=90 |issue=1 |pages=85–6 |year=2000 |month=Jan |pmid=10602125 |doi=10.1002/(SICI)1096-8628(20000103)90:1<85::AID-AJMG17>3.0.CO;2-R}}</ref> The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome.<ref>{{cite journal |author=Young ID, Simpson K |title=Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation |journal=J Med Genet. |volume=24 |issue=11 |pages=715–6 |year=1987 |month=Nov |pmid=3430551 |pmc=1050356 }}</ref><ref name=NCBI>{{cite journal |author=Nakamura T, Noma S |title=A Japanese boy with Young-Simpson syndrome |journal=Acta Paediatr Jpn |volume=39 |issue=4 |pages=472–4 |year=1997 |month=Aug |pmid=9316295 }}</ref> A individual with | ||
YSS has been identified with having symptoms to a similar syndrome known as | YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome showing that it is quite difficult to diagnose the correct condition based on the symptoms present.<ref>{{cite journal |author=Marques-de-faria AP, Maciel-Guerra AT, Júnior GG, Baptista MT |title=A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome |journal=Clin Dysmorphol. |volume=9 |issue=3 |pages=199–204 |year=2000 |month=Jul |pmid=10955481 }}</ref> Some doctors therefore consider the syndrome to be the same. <ref>[http://www.cafamily.org.uk/Direct/o11.html OHDO SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders<!-- Bot generated title -->]</ref> | ||
The | The mode of inheritance has had mixed findings based on studies undertaken.<ref name=NCBI/><ref name=Bonthron>{{cite journal |author=Bonthron DT, Barlow KM, Burt AM, Barr DG |title=Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome) |journal=J Med Genet. |volume=30 |issue=3 |pages=255–6 |year=1993 |month=Mar |pmid=8474111 |pmc=1016313 }}</ref> One study showed that the parents of an individual with YSS are unrelated and phenotypically normal, indicating a sporadic [[mutation]], thus making it difficult to base the cause of the condition on genetic make up alone.<ref name=NCBI/> Another study however with an individual of YSS had first cousins as parents, giving the possibility of [[autosomal recessive]] inheritance.<ref name=Bonthron/> | ||
==References== | ==References== | ||
Revision as of 17:56, 15 May 2009
| Young Simpson syndrome | |
| OMIM | 603736 |
|---|---|
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Overview
Young Simpson syndrome (YSS), is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation.[1][2]
Other symptoms include transient hypothyroidism, macular degeneration and torticollis.[3] The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome.[4][5] A individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome showing that it is quite difficult to diagnose the correct condition based on the symptoms present.[6] Some doctors therefore consider the syndrome to be the same. [7]
The mode of inheritance has had mixed findings based on studies undertaken.[5][8] One study showed that the parents of an individual with YSS are unrelated and phenotypically normal, indicating a sporadic mutation, thus making it difficult to base the cause of the condition on genetic make up alone.[5] Another study however with an individual of YSS had first cousins as parents, giving the possibility of autosomal recessive inheritance.[8]
References
- ↑ Masuno M, Imaizumi K, Okada T; et al. (1999). "Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation". Am J Med Genet. 84 (1): 8–11. doi:10.1002/(SICI)1096-8628(19990507)84:1<8::AID-AJMG2>3.0.CO;2-2. PMID 10213038. Unknown parameter
|month=ignored (help) - ↑ Template:RareDiseases
- ↑ Kondoh T, Kinoshita E, Moriuchi H, Niikawa N, Matsumoto T, Masuno M (2000). "Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis". Am J Med Genet. 90 (1): 85–6. doi:10.1002/(SICI)1096-8628(20000103)90:1<85::AID-AJMG17>3.0.CO;2-R. PMID 10602125. Unknown parameter
|month=ignored (help) - ↑ Young ID, Simpson K (1987). "Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation". J Med Genet. 24 (11): 715–6. PMC 1050356. PMID 3430551. Unknown parameter
|month=ignored (help) - ↑ 5.0 5.1 5.2 Nakamura T, Noma S (1997). "A Japanese boy with Young-Simpson syndrome". Acta Paediatr Jpn. 39 (4): 472–4. PMID 9316295. Unknown parameter
|month=ignored (help) - ↑ Marques-de-faria AP, Maciel-Guerra AT, Júnior GG, Baptista MT (2000). "A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome". Clin Dysmorphol. 9 (3): 199–204. PMID 10955481. Unknown parameter
|month=ignored (help) - ↑ OHDO SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders
- ↑ 8.0 8.1 Bonthron DT, Barlow KM, Burt AM, Barr DG (1993). "Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome)". J Med Genet. 30 (3): 255–6. PMC 1016313. PMID 8474111. Unknown parameter
|month=ignored (help)