Young Simpson syndrome
| Young Simpson syndrome | |
| OMIM | 603736 |
|---|---|
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)