In-depth insights into various childhood syndromes and disorders.
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Nasopalpebral lipoma-coloboma 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 Mutations in the ZDBF2 gene are possibly responsible for causing the syndrome., however, is […]
Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth and Dysmorphic Facies (NEDBGF) (MRT36) is a rare genetic syndrome that presents with intellectual disability and esotropia (which causes both eyes to turn inward). Because Mental retardation is now generally referred to as intellectual disability (intellectual developmental disorder), formerly named Mental Retardation, Autosomal Recessive 36 (MRT36), is no […]
Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties is a rare neurodevelopmental condition. The main symptoms include intellectual disability, a severe developmental delay that can present as early as infancy, and seizures. Symptoms usually present in affected individuals in infancy. Formerly known as: Mental Retardation, Autosomal Dominant 31, Formerly, MRD31 Mutations in the […]
Formerly known as Mental Retardation, Autosomal Dominant 19 syndrome, this rare disease is a neurodevelopmental condition, the main symptoms of which include intellectual disability, symptoms related to spasticity and eye and visual issues. Mutations in the CTNNB1 cause the syndrome. It is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just […]
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: Neurofibromatosis, Peripheral Type NF1; Peripheral neurofibromatosis; Von Recklinghausen Disease A damaged NF1 gene is responsible […]
Infantile-onset 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; IMNEPD Changes in the PTRH2 and YARS1 genes are responsible for the two types […]
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 The syndrome is caused by a mutation in […]
Nijmegen Breakage syndrome 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 […]
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 […]