Bloom syndrome is an exceptionally rare autosomal recessive disorder characterized by a considerable genomic instability due to the defective DNA damage repair machine. It is caused by biallelic pathogenic variants in the gene encoding for one of the five human RecQ helicases, RECQL3/BLM. The disorder manifests clinically as growth deficiency, skin anomalies, immunodeficiencies, insulin resistance, and a high predisposition to cancers. Less than 300 patients have been reported so far. In this paper, we report on the first Romanian patient of bi-ethnic origin, molecularly diagnosed with Bloom syndrome. As the most severe complications of the disorder are the malignancies, developing even in childhood, an early diagnosis is essential for further surveillance and therapeutic approach of Bloom patients.

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.