In-depth insights into various childhood syndromes and disorders.
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It is a rare neurodevelopment syndrome that affects mainly the eyes and brain development. Issues with vision and intellectual disability are the main symptoms of the syndrome as a result. There are currently less than 100 cases recorded of the syndrome worldwide, making it extremely rare. This syndrome is also known as: Micro Syndrome WARBM
Weaver syndrome is characterized by excessive physical growth in an individual, this rapid osseous growth usually starts prenatally. Males have been found to be three times more likely to be affected by the syndrome than females. Syndrome Synonyms: Weaver-smith Syndrome; Wss
It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.
It is a rare genetic syndrome that often presents with autism features that affect an individual’s social skills, behaviour and ability to communicate. Delayed development and intellectual disability also characterize the syndrome. It is also known as Mental Retardation Autosomal Dominant 37 syndrome.
It 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 been reported in just 5 families. Due to the nature of its inheritance the syndrome is more common in makes, and affected females may have very mild symptoms if any. This syndrome is also known as: MCS Mental Retardation, X-linked, Syndromic 4; Mrxs4 Mental Retardation, X-linked, With Congenital Contractures And Low Fingertip Arches MRXS4
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
Also known as 7q11.23 duplication syndrome this rare condition causes intellectual disability and global developmental delay in affected individuals. This syndrome is also known as: Chromosome 7q11.23 Duplication Syndrome Somerville-van Der Aa Syndrome Wbs Duplication Syndrome
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 wide mouth, prominent lips, and a small nose. The disorder is rare and occurs in approximately 1 in 10,000 people. Syndrome Synonyms: williams-beuren
Witteveen-Kolk syndrome is a rare neuro-developmental disorder. The syndrome is characterized by developmental delay and intellectual disability. As well as by unique facial characteristics and a 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 have been diagnosed with the syndrome. The syndrome is also known as 15q24 Microdeletion syndrome.