In-depth insights into various childhood syndromes and disorders.
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It 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 known as: Poikiloderma Atrophicans And Cataract Poikiloderma congenita RTS
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 their severity between individuals. These health conditions usually include broad thumbs and first toes, developmental delay and intellectual disability, characteristic facial features, and possible cardiac and respiratory problems.
Saethre-Chotzen is a rare disease (craniosynostosis) which 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 Acrocephalosyndactyly, Type Iii; Acs3 Acrocephaly, Skull Asymmetry, And Mild Syndactyly Acs Iii ACSIII Chotzen Syndrome SCS
It 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
It is a rare genetic syndrome that presents with distinct facial features, including facial asymmetry and widely spaced eyes. The syndrome is also characterized by anomalies relating to a cleft palate. The syndrome affects multiple parts of the body- including the musculoskeletal and nervous systems. This syndrome is also known as: Blepharofacioskeletal Syndrome; Brss Cleft Palate, Hypotelorism, And Hypospadias Ocular Hypotelorism, Submucosal Cleft Palate, And Hypospadias
This rare disease is a congenital genetic condition. This neurodegenerative syndrome has a low life expectancy for individuals affected, and very few affected survive childhood. The most common cause of death is from respiratory or breathing problems.
It is a rare genetic syndrome that affects mainly the skeletal muscles. There are two types of the syndrome, with Type 1 being the most common form of the syndrome, with symptoms that are usually first identified in late infancy or early childhood. There are 85 cases reported of the syndrome so far. This syndrome is also known as: Chondrodystrophic Myotonia Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities Schwartz-jampel Syndrome; Sjs Schwartz-jampel-aberfeld Syndrome Sja Syndrome
It is a rare genetic syndrome. Most cases of the syndrome have been identified amongst the Afrikaner population in South Africa, but cases have also been reported in the USA and Brasil. The syndrome leads to bone overgrowth which in turn causes a number of health issues and symptoms. Sclerosteosis is the most severe form of the syndromes related to SOST-related sclerosing bone dysplasia. Syndrome Synonyms: Cortical Hyperostosis With Syndactyly Sost Truswell-Hansen disease Truswell-Hansen syndrome
This rare disease is an inherited syndrome, named for the pediatrician, Dr. Seckel, who published the first clinical cases of the syndrome in 1960. The main characteristics of the syndrome include, intrauterine growth retardation (before birth), dwarfism, intellectual disability, microcephaly (a very small head) and a ‘bird-like’ facial appearance. Syndrome Synonyms: Bird-headed dwarfism