In-depth insights into various childhood syndromes and disorders.
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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 […]
Noonan syndrome is a genetic disorder that presents with unusual facial characteristics and short stature. Health conditions associated with this disorder include eczema, developmental delay, short stature, webbed neck, pulmonic stenosis, and unique facial features. It is an inherited genetic condition, and just one copy of the mutated gene in each cell is enough to […]
This rare disease was first identified in 2003. Individuals with Noonan Syndrome-Like Disorder with Loose Anagen Hair display some of the unique facial features of Noonan syndrome, combined with the sparse hair of Anagen syndrome. These unique facial features include a large head (macrocephaly) and wide-set eyes among others. This syndrome is also known as:Mazzanti […]
Oculodentodigital Dysplasia is a rare genetic syndrome that mainly affects the eyes, teeth, and fingers of the body. This syndrome is also known as:Meyer-Schwickerath syndrome; Oculo-dento-osseous syndrome; Oculodentoosseous Dysplasia; ODOD; Oculodentoosseoussyndrome; ODD Syndrome; ODDD Changes in the GJA1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern however most […]
Odontoonychodermal Dysplasia is a rare genetic syndrome that mainly affects the skin and hair of affected individuals. This syndrome is also known as:OODD; Tricho-odonto-onycho-dermal dysplasia Changes in the WNT10A gene are responsible for causing the syndrome. It is inherited in an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means an affected individual receives one […]
Ohdo syndrome is a rare genetic condition that affects multiple parts of the body. Severe intellectual disability is a major syndrome. To date, there are 19 recorded cases of the syndrome worldwide and it is thought to occur in more than 1 in 1 million live births worldwide. Syndrome Synonyms:Mental Retardation, Congenital Heart Disease, Blepharophimosis, […]