In-depth insights into various childhood syndromes and disorders.
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Focal Facial Dermal Dysplasia, also called Brauer syndrome, is a rare genetic disorder. Since its identification in 1929, only 80 cases have been documented to date. The disease is characterized by congenital (present at birth) facial lesions around the temples of the face. There are 4 types of the syndrome, Genes FFDD1, FFDD2, TWIST2 and […]
Fontaine Progeroid syndrome is a rare genetic syndrome that is often diagnosed before birth. One of the main symptoms of the syndrome is a severe growth retardation both before and after birth. The life expectancy of many individuals with the condition is short, with many individuals not living past infancy or early childhood. This syndrome […]
It is part of a family of genetic disorders caused by a particular gene’s pre or full mutation. It affects males more frequently than females, and symptoms are often more severe in males. Symptoms may vary broadly depending on the number of CGG repeats. They might include variable degrees of developmental delay, especially in males, […]
Frank-Ter Haar syndrome rare genetic syndrome, with less than 30 cases diagnosed globally to date. The syndrome presents with a wide range of possible symptoms that affect multiple parts of the body. These include a number of unique facial features and potential health conditions. This syndrome is also known as:Dermato-cardio-skeletal syndrome; Frank-Ter Haar syndrome; Melnick-Needles […]
Frontonasal dysplasia is a rare congenital malformation syndrome affecting the head, face, and eyes of affected individuals. This syndrome is also known as:FFND Frontofacionasal Dysostosis The exact cause of gene mutations is as yet unknown. It seems to be inherited in an autosomal recessive pattern. Autosomal recessive inheritance means an affected individual receives one copy […]
Frontometaphyseal Dysplasia is a rare disease and one of several otopalatodigital spectrum disorders. It affects the development of the skeleton and other organs in the body. It is diagnosed mainly in males (due to its mode of inheritance) and females affected usually present with less severe symptoms. Changes in the FLNA gene cause the syndrome. […]
Frontonasal Dysplasia is a rare genetic syndrome that affects the development of the head and face before birth. There are 3 identified types of the syndrome. Each type is caused by a mutation in a specific gene, and each syndrome has shared symptoms plus additional symptoms which make each form of the syndrome unique. This […]
Gapo syndrome is a rare congenital syndrome affecting the connective tissue in the body. Common symptoms of the syndrome include short stature (due to prenatal growth restriction), unique facial features, alopecia, and issues relating to the eyes and ears. First identified in 1947 there have been just 38 identified cases to date. This syndrome is […]
Glass, or SATB2-associated syndrome, is a genetic condition that presents with varying degrees of intellectual disability. It is a recently described syndrome, characterized by absent or limited speech, craniofacial abnormalities specifically affecting the palate and teeth, as well as behavioral issues. This syndrome is also known as:Chromosome 2q32-q33 Deletion Syndrome; Chromosome 2q33.1-Microdeletion; SATB2-associated syndrome Mutations […]