In-depth insights into various childhood syndromes and disorders.
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Spondyloepimetaphyseal dysplasia, Genevieve type is a rare syndrome that presents with bone dysplasia and severe developmental delay. This syndrome is also known as:Semd, Genevieve Type SEMDG Mutations in the NANS gene are responsible for the syndrome. The syndrome is inherited in an autosomal recessive pattern. The main symptoms of this rare syndrome include severe developmental […]
Stickler syndrome is a hereditary, progressive group of syndromes. This means symptoms associated with, and triggered by this rare disease worsen over time. Symptoms may vary widely in their type and severity between individuals. However, the most serious features of the syndrome can cause vision and hearing impairment, as well as problems with the joints. […]
It is a rare neurological syndrome. One of its identifying characteristics is a very distinctive port wine stain on the forehead, scalp, or around the eye of an affected individual. This stain must be accompanied by abnormal or affected blood vessels on the brain on the same side of the head as the stain. A […]
Tatton-Brown-Rahman syndrome is also known as DNMT3A overgrowth syndrome. It is a recently discovered syndrome that causes overgrowth in affected individuals. There is still much that is not known about this rare condition. Intellectual disability and developmental delay are key symptoms of the syndrome. Changes in the DNMTA3 gene are responsible for causing the syndrome. […]
Teebi Hypertelorism Syndrome is a rare genetic syndrome that mainly affects the eyes and throat of affected individuals. Due to the way in which it is inherited it affects mainly males and affects them more severely than females. Syndrome Synonyms:BBB Syndrome; Chromosome 22q11.2 Deletion Syndrome; Opitz Phenotype G Syndrome; GBBB Syndrome; Hypertelorism with Esophageal Abnormality […]
Temple syndrome is a rare genetic syndrome that presents with a variety of symptoms. These symptoms include growth delay, issues with feeding, motor development delay, and unique facial features. The syndrome occurs in less than 1 in 1 million live births. The syndrome was only discovered fairly recently and research is still ongoing. Also known […]
Tetrasomy 18p syndrome is a rare chromosomal syndrome that affects multiple parts of the body. The main symptoms of the syndrome are usually very obvious in infancy and include difficulties with feeding, delayed development, and intellectual disability. However, these can vary according to the individual. As a rare syndrome, it is known to affect around […]
Thanatophoric dysplasia is a rare skeletal disorder that presents with very short limbs as well as folds of skin on the arms and legs. The syndrome is severe and most infants with the syndrome are stillborn or die very soon after birth from respiratory failure. Very few survive into childhood and those that do require […]
Three M syndrome is a rare genetic syndrome that causes skeletal abnormalities primarily. Slow growth is also a defining characteristic of the syndrome and this slow growth continues throughout childhood and into adulthood. There are currently around 100 reported cases of the syndrome worldwide. A variant of the syndrome known as Yakut short stature syndrome […]