In-depth insights into various childhood syndromes and disorders.
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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 is a genetic disorder that occurs in around 1 in every 50,000 births., making it a rare disease. Symptoms may vary considerably between individuals but the condition mainly affects the development of bones and tissue in the face. This syndrome is also known as:Franceschetti syndrome; Mandibulofacial Dysostosis, Treacher Collins Type; TCS Mutations in […]
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 […]
Also known as Edwards syndrome, it is a rare chromosomal syndrome that presents with anomalies and symptoms that affect many parts of the body. Due to the severity of symptoms, many infants with the condition die before birth or in the first month of life. The 5-10% of children who survive the first year have […]
Turner syndrome affects only females. 1 in every 2,000 females born is diagnosed with the syndrome. This rare disease is characterized by short stature, heart defects, and a failure of the reproductive organs, specifically the ovaries to develop. In some instances, the syndrome is not diagnosed until puberty when these symptoms become apparent. The syndrome […]
Urofacial is a very rare genetic syndrome. The two main features of this syndrome are what is referred to as an unusual facial expression and uropathy-which is a disorder of the urinary tract. It is also sometimes referred to as Ochoa syndrome. More than 150 cases of the syndrome have currently been recognized. The majority […]
Van Den Ende-Gupta syndrome is a rare genetic syndrome, present at birth, and associated with unique facial features and skeletal anomalies. There have been 40 cases of the syndrome reported worldwide so far. Little is still known about how the condition progresses in affected individuals with age. This syndrome is also known as:Blepharophimosis, Arachnodactyly, and […]
Waardenburg is a group of rare genetic disorders that occurs in around 1 in every 40,000 births. The syndrome is made up of four genetic disorders, named Type 1-4. Type 1 and 2 are the most common, while type 3 usually causes the most severe symptoms. Auditory and pigmentary (relating to the skin) abnormalities are […]