In-depth insights into various childhood syndromes and disorders.
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It is a rare genetic syndrome that affects mainly the eyes specifically with lipomas ( benign tissue of fat) and colobomas (holes in any part of the eye- iris, retina, choroid, optic disc). This syndrome is also known as: Palpebral Coloboma-Lipoma Syndrome
Also known as Intellectual Disability-Strabismus syndrome, this rare genetic syndrome presents with intellectual disability and esotropia (which causes both eyes to turn inward). Mental retardation is now generally referred to as intellectual disability (intellectual developmental disorder). This syndrome is also known as: Intellectual disability – esotropia – ADAT3 mutations
It is a rare neurodevelopmental condition. Mental retardation is now referred to as intellectual disability (intellectual developmental disorder). The main symptoms include intellectual disability, severe developmental delay that can present as early as infancy and seizures. Symptoms usually present in affected individuals in infancy.
This rare disease is also known as neurodevelopmental disorder with spastic diplegia and visual defects. It is a rare neurodevelopmental condition, the main symptoms of which include intellectual disability, symptoms related to spasticity and eye and visual issues. Mental retardation is now referred to as intellectual disability (intellectual developmental disorder).
Neurofibromatosis, Type 1 is a genetic condition that affects male and females equally. Symptoms can vary widely between individuals diagnosed with the syndrome. The syndrome is characterized by skin and pigmentation abnormalities and fibromatous tumors of the skin. Syndrome Synonyms: CORD4 Neurofibromatosis, Peripheral Type NF1; Peripheral neurofibromatosis Von Recklinghausen Disease
It is a rare genetic syndrome that presents with multiple congenital anomalies. This means many of the features of the syndrome are present from birth. The syndrome also presents with intellectual disability. This syndrome is also known as: Infantile onset neurology – endocrine – pancreatic disease
Nicolaides-Baraitser syndrome is a very rare genetic condition with just 75 known recorded cases. to date. Common symptoms of the syndrome include, severe mental retardation, short stature, sparse hair, early-onset seizures, and characteristic facial features. This syndrome is also known as: Nbs NCBRS Sparse Hair And Mental Retardation
It is a rare genetic syndrome that seems to be more prevalent amongst the Slavic populations of Eastern Europe. It is defined by a short stature, a very small head, intellectual disability and an increased risk of cancer. This syndrome is also known as: Ataxia-telangiectasia Variant V1; At-v1 Immunodeficiency, Microcephaly, And Chromosomal Instability Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies Nbs Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence Seemanova Syndrome II
18p deletion is a rare genetic syndrome is a deletion syndrome that presents with birth defects, intellectual disability and developmental delay. The severity of the syndromes depends on the size of the deletion. For reasons that are as yet unknown the syndrome tends to affect females more commonly than males. There are two forms of the syndrome- centromeric and non-centromeric, and the type of deletion affects the type.