In-depth insights into various childhood syndromes and disorders.
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It is a rare disease which 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
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 actually be higher due to under diagnosis of the syndrome in less severe cases. This syndrome is also known as: BWS Emg Syndrome Exomphalos-macroglossia-gigantism Syndrome Wiedemann-beckwith Syndrome; Wbs
This rare disease is a 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. Main symptoms of the syndrome include, low muscle tone, intellectual disability and skin and hair problems. This syndrome is also known as: Biotinidase deficiency Holocarboxylase synthetase deficiency
Also known as KCNK9 imprinting syndrome, this rare genetic condition has currently been diagnosed in just 19 individuals worldwide, to date. Developmental delay, intellectual disability, and unique facial features are main symptoms of the syndrome. This syndrome is also known as: Birk-Barel mental retardation syndrome; Birk-barel Syndrome Mental Retardation With Hypotonia And Facial Dysmorphism
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 inherited in an autosomal dominant pattern
Also known as Pashayan syndrome, there are just 3 cases of this genetic condition diagnosed worldwide, 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
This rare disease is a developmental condition usually recognizable at birth due to its 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
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 descent. This syndrome is also known as: Bs; Bls
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 recorded globally. This syndrome is also known as: Bohring Syndrome; C-like Syndrome; Opitz Trigonocephaly-like Syndrome