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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Young Simpson syndrome

Introduction

Overview

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

References

  1. ↑ 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)
  2. ↑ Template:RareDiseases
  3. ↑ 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)
  4. ↑ 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. ↑ 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)
  6. ↑ 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)
  7. ↑ OHDO SYNDROME: Contact a Family – for families with disabled children: information on rare syndromes and disorders
  8. ↑ 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)