In-depth insights into various childhood syndromes and disorders.
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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 […]
Osteopathia Striata with Cranial Sclerosis is a rare genetic syndrome that belongs to a group of conditions known as skeletal dysplasia disorders. The symptoms of the syndrome mainly affect the bones, as well as the growth of an affected individual. This syndrome is also known as:Horan-Beighton syndrome; OSCS; Hyperostosis generalisata with striations The syndrome is […]
Otopalatodigital syndrome is a rare genetic syndrome that presents mainly in males due to its mode of inheritance. There are two types of the syndrome, both of which present with similar symptoms- skeletal abnormalities, cleft palate, and hearing loss. However, Type 2 of the syndrome is a much more severe form and generally, individuals with […]
Otospondylomegaepiphyseal Dysplasia is a rare genetic syndrome which affects the skeletal system of the body. It also presents with hearing loss and unique facial features. There have been just a few cases of the syndrome diagnosed worldwide. This syndrome is also known as:Chondrodystrophy with Sensorineural Deafness; Nance-Insley Syndrome; Nance-Sweeney; Chondrodysplasia OSMED; Oto-spondylo-megaepiphyseal dysplasia; Formerly, Weissenbacher-Zweymuller […]
Pallister-Hall syndrome is a rare genetic condition characterized by a distinctive combination of hypothalamic hamartoma (benign brain tumors) and polydactyly (extra fingers or toes). The condition varies widely in severity, ranging from significant medical problems identified during infancy to much milder forms recognized later in life. Because symptoms vary considerably between individuals, even within the same family, early recognition guides appropriate medical evaluation, monitoring, […]
Pallister-Killian syndrome is a very rare genetic condition with just 150 recorded cases to date. However this figure may actually be higher as individuals with mild symptoms may go undiagnosed. This rare disease is a multi-system disorder. Its defining features include low muscle tone (hypotonia) in infancy and early childhood, intellectual disability, unique facial features […]