In-depth insights into various childhood syndromes and disorders.
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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 […]
Borjeson-Forssman-Lehmann syndrome is a rare genetic condition which, due to the way it is inherited, affects mainly males. There are 40 recorded cases to date but this number is believed to be higher. The main symptoms of the syndrome include unique facial features and intellectual disability. This syndrome is also known as:Borjeson Syndrome; Borjeson Mental […]
Bosch-Boonstra-Schaaf Optic Atrophy syndrome is a genetic condition that affects the overall vision of an affected individual. First identified in 2104, there are currently 50 cases recorded to date. Intellectual disability, and unique facial features, as well as visual impairment, are common symptoms of the syndrome. Mutations in the NR2F1 gene on chromosome 5 are […]
Bosma Arhinia Microphthalmia syndrome is a rare genetic condition currently diagnosed in less than 100 individuals worldwide. The dominant features of this syndrome affect mainly the nose and ears of affected individuals. It also can affect and delay the puberty of individuals with the condition. This syndrome is also known as:Arhinia, Choanal Atresia, Microphthalmia, and […]
Branchiooculofacial syndrome is a rare genetic condition first identified in 1987. The main features and symptoms of the syndrome affect the eyes, the skin, and other facial features. The syndrome also affects the kidneys of affected individuals. This syndrome is also known as:BOF Syndrome; BOFS; Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, […]
Burn-McKeown syndrome is a rare genetic, congenital condition. Many of its symptoms are present at birth. The most obvious symptom of this syndrome is the blockage of an affected individual’s nasal passages at birth. Unique facial features and hearing loss, of varying degrees, are also common with the syndrome. This syndrome is also known as:Burn-McKeown […]
Campomelic Dysplasia is a rare genetic syndrome that presents with severe symptoms, especially in the newborn period. The majority of individuals do not survive infancy due to the severity of congenital features that cause respiratory insufficiency. Most symptoms of the condition can be diagnosed before birth through an ultrasound. Syndrome Synonyms:Campomelic dysplasia CMD1; CMPD1 Mutations […]
Cantu syndrome is a rare serious genetic condition with symptoms that affect different systems of the body. It was first identified in 1982 and to date, there are currently 50 cases documented worldwide. The syndrome puts affected infants at risk for preterm and premature labor. Syndrome Synonyms:Hypertrichotic Osteochondrodysplasia Mutations to the ABCC9 gene cause the […]
Cardiofaciocutaneous syndrome is a rare genetic disorder that presents with very distinct facial characteristics and a wide range of health conditions that affect the skin and hair of individuals affected. Heart defects are also common with the syndrome. Also known as CFC syndrome. It belongs to the RASopathies group of conditions distinguished by their genetic […]