In-depth insights into various childhood syndromes and disorders.
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Renpenning Syndrome 1 is a rare genetic syndrome that affects mainly males. It causes developmental delay, intellectual disability, and distinct facial and physical features that characterize the syndrome. Currently, the syndrome has been diagnosed in more than 60 individuals in just 15 families worldwide. This syndrome is also known as:Golabi-Ito-Hall Syndrome; Mental Retardation, X-linked 55; […]
Rett syndrome is a rare genetic condition that mainly affects girls. It is a neurological syndrome that is diagnosed in infants between the ages of 6-18 months. It is a progressive condition and one of the first symptoms is a regression in development. It affects around 1 in 10,000 girls. This rare neurological condition affects […]
Rhizomelic Chondrodysplasia Punctata is a group of rare genetic syndromes that affects multiple parts of the body. It affects the skeletal system and presents with unique facial features, issues with the respiratory system, and intellectual disability. The syndrome presents with severe health conditions, mainly related to the respiratory system, which means many individuals with the […]
Roberts-SC Phocomelia is a rare genetic syndrome. The syndrome is distinguished by growth delays (both before and after birth), as well as abnormalities affecting the limbs of the body (arms and legs), and abnormalities affecting the skull and face. The symptoms of the syndrome are similar to those that present with Cornelia de Lange syndrome […]
Robinow syndrome is a rare genetic condition that was first identified in 1969. The disease has two forms, autosomal dominant and autosomal recessive, and depending on the type causes varying severity of symptoms. The defining features of the syndrome include short-limbed dwarfism, anomalies affecting the head and face, as well as anomalies affecting the external […]
Rothmund-Thomson is a rare genetic syndrome that affects multiple parts of the body. Many of the main symptoms affect the skin especially. The syndrome also presents with many unique physical features. Affected individuals are also at higher risk of cancer. There are around 300 reported cases of the syndrome worldwide currently. This syndrome is also […]
Rubinstein-Taybi syndrome is a very rare genetic condition and occurs in anywhere between 1 in 100-300,000 live births. It occurs in males and females equally. Health conditions associated with Rubinstein-Taybi syndrome vary considerably between individuals with the syndrome and also vary in severity between individuals. These health conditions usually include broad thumbs and first toes, […]
Saethre-Chotzen is a rare disease (craniosynostosis) that causes the premature fusing of the bones in the skull. This premature fusion in turn affects the shape of the head and face. It does not, however, affect brain development and intellectual ability. Syndrome Synonyms:Acrocephalosyndactyly-type III; Acrocephalosyndactyly type III; ACS3 Acrocephaly, Skull Asymmetry, and Mild Syndactyly; Acs III; […]
Schaaf-Yang is a rare genetic syndrome that is similar to Prader-Willi syndrome. It shares similar symptoms with the syndrome but minus the excessive appetite that accompanies Prader-Willi. This syndrome is also known as:Prader-willi-like Syndrome; PWLS; Arthrogryposis, Distal, with Hypopituitarism, Mental Retardation, and Facial Anomalies; Chitayat-Hall syndrome Mutations to the MAGEL2 gene on chromosome 15 cause […]