In-depth insights into various childhood syndromes and disorders.
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Basilicata-Akhtar syndrome is a rare disease that presents with global developmental delay beyond infancy, limited to zero speech, feeding issues, and low muscle tone (hypotonia). It affects males and females similarly. This syndrome is also known as:Basilicata-Akhtar syndrome; Intellectual development disorder, X-linked syndromic type 36. Mutations in the MSL3 gene cause the syndrome. It is […]
Beckwith-Wiedemann syndrome is a genetic and congenital (present at birth) overgrowth disorder that leads to a predisposition to tumors, and in some cases cancer. A large body size (macrosomia) is characteristic of this rare disease. Its severity varies between individuals, and while it is thought to occur in 1 in 11,000 births, this figure may […]
Biotinidase Deficiency is a rare condition where biotin is not produced in sufficient amounts. Biotin is responsible for breaking down fats, carbohydrates, and proteins in the body and a deficiency can cause a number of symptoms. The main symptoms of the syndrome include low muscle tone, intellectual disability, and skin and hair problems. This syndrome […]
Birk-Barel Mental Retardation Dysmorphism syndrome, also known as KCNK9 imprinting syndrome, a rare genetic condition has been diagnosed in just 21 individuals worldwide, in 2021. Developmental delay, intellectual disability, and unique facial features are the main symptoms of the syndrome. This syndrome is also known as:Birk-Barel mental retardation syndrome; Birk-Barel Syndrome Mental Retardation With Hypotonia […]
Blepharocheilodontic syndrome is a rare genetic syndrome that affects mainly the eyes and teeth. There are 50 cases identified worldwide to date making it a very rare disease. Mutations in the CDH1 and CTNND1 genes are responsible for causing the syndrome. The syndrome may occur as the result of a de novo mutation and is […]
Blepharonasofacial Malformation syndrome, also referred to as Pashayan syndrome, is an extremely rare genetic condition, with only three cases reported globally to date. This rare disease is defined by its unique facial features, which include a mask-like face, and by severe intellectual disability. This syndrome is also known as:Pashayan Syndrome These are as yet unidentified […]
Blepharophimosis, Ptosis, and Epicanthus Inversus a rare developmental conditions usually recognizable at birth due to their unique facial features relating mainly to the eyes. There are two types of the disease, type 1 and type 2. This syndrome is also known as:BPES Komoto’s syndrome Changes to the FOXL2 gene on chromosome 3 are responsible for […]
Bloom syndrome is a very rare genetic disorder characterized by unique facial features. Other defining features of the syndrome include abnormal growth, a sensitivity to the sun with telangiectasias (dilated small blood vessels on the skin), pigmentation abnormalities, and a predisposition to skin malignancy. Over ⅓ of the known cases involve individuals of Ashkenazi Jewish […]
Bohring-Opitz syndrome is a rare disease which affects multiple parts of the body. It is mainly characterized by intrauterine growth restriction and failure to thrive following birth. A port wine stain on the face (nevus flammeus of the face) is also a defining feature of this rare disease. To date there are just 60 cases […]