In-depth insights into various childhood syndromes and disorders.
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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 […]
Learning that your baby has thanatophoric dysplasia can be frightening and bring many unanswered questions. Thanatophoric dysplasia is a rare genetic condition that affects how bones develop before birth, leading to very short limbs, a narrow chest, and characteristic skeletal differences. It is an extremely rare condition, affecting an estimated 1 in 20,000 to 50,000 births worldwide. The condition is usually life-limiting because […]
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 […]
Tietz Albinism syndrome is a rare congenital syndrome that presents with hearing loss, fair skin, and very light-colored hair. This syndrome is also known as:Albinism-deafness; Albinism-deafness of Tietz; Hypopigmentation/deafness of Tietz; Tietz syndrome Changes in the MITF gene are responsible for causing the syndrome. The syndrome is inherited in an autosomal dominant pattern. Possible clinical […]
Townes-Brocks syndrome is a rare genetic syndrome with multiple malformations. Syndrome Synonyms: Anus, Imperforate, with Hand, Foot, and Ear Anomalies; Deafness, Sensorineural, with Imperforate Anus and Thumb Anomalies; Rear Syndrome; Renal-ear-anal-radial Syndrome; TBS Townes-Brocks syndrome Mutations in SALL1 gene are responsible for the type 1 of this syndrome; DACT1 for type 2. Both types have […]
Treacher Collins syndrome, or TCS, is a rare genetic condition that affects the development of the bones and other tissues of the face before birth. It occurs in approximately 1 in 50,000 births. The condition primarily affects the cheekbones, jaw, ears, eyelids, and palate. Depending on its severity, it may also affect breathing, feeding, hearing, speech, dental development, […]
Trichorhinophalangeal syndrome is a very rare, inherited genetic syndrome that affects multiple parts of the body. The main features and symptoms of the syndrome are craniofacial and skeletal abnormalities. Mutations to the TRPS1 and TRPS2 genes on chromosome 8 are known to cause the syndrome. The syndrome is inherited in an autosomal dominant pattern. In […]