In-depth insights into various childhood syndromes and disorders.
Complete our online AI-based assessment and receive more information on possible causes and recommendations on how to assist your child.
Filippi syndrome is a rare genetic syndrome. Since 1985 there have been less than 25 cases diagnosed worldwide, to date. The syndrome is characterized by its distinct facial features, intellectual disability, and webbing of the fingers and toes. Syndrome Synonyms:Scott Craniodigital Syndrome with Mental Retardation; Syndactyly, Type I, with Microcephaly And Mental Retardation Changes in […]
Floating-Harbor syndrome is a genetic condition that presents with unique facial features and characteristics. Other main symptoms include proportionate short stature, delayed bone age and delayed speech development. It is named for the hospitals in California where it was first described. Mutations in the SRCAP gene located on chromosome 16 are responsible for the syndrome. […]
Focal Dermal Hypoplasia, commonly known as Goltz syndrome, is a rare genetic disorder that primarily affects females. 90% of those diagnosed with the syndrome are female. Males may have only very mild symptoms. Generally, the syndrome in its full form is fatal for males very early in their development. As a multi-system disorder, it affects […]
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. […]