Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
Última actualización 18 Aug 2020
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The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterised by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.
Descripción
The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterised by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.
Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Females with this condition have normal genitalia.
Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). Many people with this condition have long thumbs and first (big) toes.
The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties.
The SBBYS variant of Ohdo syndrome is characterised by a mask-like, non-expressive face. Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of affected individuals are born with an opening in the roof of the mouth called a cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with heart defects and dental problems.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
Blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type
Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type
BMRS SBBYS
Ohdo syndrome, Say-Barber-Biesecker variant
Ohdo syndrome, SBBYS variant
Say-Barber-Biesecker-Young-Simpson syndrome
Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome
SBBYS variant of Ohdo syndrome
SBBYSS
Young-Simpson syndrome
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Lecturas adicionales y referencias
- Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant; MedlinePlus, National Library of Medicine.
- Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12.
- Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.
- Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J. A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. Clin Genet. 2008 Nov;74(5):434-44. doi: 10.1111/j.1399-0004.2008.01087.x. Epub 2008 Sep 16.
- Lemire G, Campeau PM, Lee BH. KAT6B Disorders. 2012 Dec 13 [updated 2020 Jan 2]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK114806/
- Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y. Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. Am J Med Genet. 1999 May 7;84(1):8-11. doi: 10.1002/(sici)1096-8628(19990507)84:13.0.co;2-2.
- Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270.
- White SM, Ades LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R. Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clin Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007.
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