In-depth insights into various childhood syndromes and disorders.
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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, […]
Omodysplasia is a rare genetic syndrome defined by its unique facial features and severely shortened limbs. It is a skeletal dysplasia disorder. There are just 40 cases of the syndrome reported worldwide. Syndrome Synonyms:Micromelic Dysplasia, Congenital, with Dislocation of Radius; Omodysplasia There are two forms of the syndrome. One is inherited in an autosomal dominant […]
Opitz GBBB syndrome is a rare genetic condition that mainly affects males. Females are carriers for this X-linked disorder but rarely show any symptoms. The syndrome presents with symptoms that may vary considerably between individuals in their presence and severity. The defining features of this rare disease include, widely spaced eyes, and issues affecting the […]
Also known as FG syndrome it is a rare genetic condition that presents mainly in males. Its symptoms affect multiple parts of the body. The syndrome mainly affects intelligence and behavior. The syndrome has been reported in several hundred families worldwide but it is generally believed to be largely underdiagnosed as a syndrome, mainly because […]
Opsismodysplasia is a rare genetic syndrome that affects mainly the skeletal system of the body. It is usually diagnosed at birth by its unique and distinct facial features. The syndrome is caused by changes in the INPPL1 gene. It is inherited in an autosomal recessive pattern. The main symptoms of the syndrome are congenital, making […]