In-depth insights into various childhood syndromes and disorders.
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Wieacker-Wolff syndrome is a progressive genetic syndrome, meaning its symptoms worsen with time. It is present at birth. Its main symptoms include deformities of the joints of the feet, muscle degeneration, and an inability to move certain parts of the face including the muscles of the eyes and tongue. Up to 2015, the syndrome had […]
Wiedermann-Steiner syndrome, or Wiedemann Grosse Dibbern syndrome as it is also known, was only genetically identified in 2012. It is characterized by short stature and the overgrowth of hair on the elbows (hypertrichosis cubiti). Developmental delay and unique facial features are also characteristic of the syndrome. Syndrome Synonyms:Wiedemann-Steiner Syndrome; WDSTS; Hairy Elbows, Short Stature, Facial […]
Williams-Beuren Region Duplication Syndrome also referred to as 7q11.23 duplication syndrome, is a rare disorder that leads to intellectual disability and global developmental delays in those affected. This syndrome is also known as:Chromosome 7q11.23 Duplication Syndrome; Somerville-van Der Aa Syndrome; WBS Duplication Syndrome The syndrome is caused by the duplication of genetic material on the […]
Williams-Beuren syndrome is a genetic condition that presents with a characteristic face. Health conditions associated with this developmental disorder include heart defects and especially supravalvular aortic stenosis. Mild to moderate intellectual disability or learning problems and often unique personality traits characterize this condition. Patients often have a typical face for this syndrome, which includes a […]
Witteveen-Kolk syndrome is a rare neurodevelopmental disorder. The syndrome is characterized by developmental delay and intellectual disability. As well as by unique facial characteristics and short stature. The syndrome occurs in less than 1 in 1000000 people worldwide making it extremely rare. It affects males and females equally. Currently, just 40 individuals in the world […]
Wolf-Hirschhorn syndrome is a very rare genetic disorder that presents with very distinct facial characteristics. Features of this rare disease also include a wide range of health conditions that affect different parts of the body, including delayed physical growth. As a rare chromosomal deletion syndrome, the severity of symptoms may vary according to the size […]
Xia-Gibbs syndrome is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as:Mental Retardation, Autosomal Dominant 25; MRD25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result […]
Yunis Varon syndrome is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as:Cleidocranial Dysplasia with Micrognathia, Absent […]
ZTTK syndrome is a rare disease that presents with intellectual disability and developmental delay. Symptoms also include brain or cerebral anomalies, issues with vision, musculoskeletal abnormalities, and birth defects. This syndrome is also known as:ZTTKS; Zhu-Tokita-Takenouchi-Kim syndrome; ZTTK Multiple Congenital Anomalies-Mental Retardation syndrome The syndrome is caused by mutations in the SON gene. It is […]