Clinical Aspects of a Rare Disease: Bardet Biedl Syndrome

Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairmen...

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Published inMedicina modernă (Bucharest, Romania) Vol. 29; no. 1; pp. 37 - 42
Main Authors FOCSA, Ina Ofelia, BUDISTEANU, Magdalena, STOICA, Cristina, NEDELEA, Florina, JURCA, Claudia, CABA, Lavinia, PANZARU, Monica, RUSU, Cristina, BALGRADEAN, Mihaela, BUTNARIU, Lacramioara
Format Journal Article
LanguageEnglish
Published Media Med Publicis 30.03.2022
Subjects
bardet biedl syndrome
ciliopathies
inheritance
multiorgan involvement
oligogenic
pleiotropy
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Summary:Bardet Biedl syndrome (BBS) is a rare primary ciliopathy with a complex and extremely variable clinical presentation. The core features of the disease are rod-cone dystrophy, postaxial polydactyly, central obesity, urogenital anomalies, learning difficulties and kidney disease, however the impairment of any organ may complicate the clinical picture. Here we report on clinical findings of 25 patients diagnosed with BBS. Our study is the first on a cohort of Romanian BBS patients, aiming to emphasize the complexity of the disease that may have a devastating impact on patients and their families. Thus, an early clinical diagnosis is crucial for anticipation of other system and organ involvement. Periodic follow up, by a multidisciplinary team, may prevent several severe complications, which could accelerate or aggravate the most deleterious aspects of the disease: loss of vision or renal impairment.
ISSN:1223-0472
2360-2473
DOI:10.31689/rmm.2021.29.1.37