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Research

The clinical team at GOSH works closely with the research department at the Behavioural and Brain Sciences Unit (BBSU) at UCL Great Ormond Street Institute of Child Health (ICH). We collaborate with colleagues around the world to try and understand the genetic, psychological and neurophysiological basis of disorders on the autism spectrum. All information we obtain in terms of interview, observation and other investigations is compiled into anonymised computerised files. From our database of nearly 2000 children, we are able to compare a child’s problems with others seen in our clinic and can look for similarities and differences. For research purposes, we usually ask parents to donate DNA samples too. 

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome is a type of complex craniosynostosis named after the two doctors who described it in the mid-20th century. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Saethre-Chotzen syndrome and where to get help.

Treacher-Collins syndrome

Treacher-Collins syndrome is a congenital (present at birth) condition affecting the bones and tissues in the face. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Treacher-Collins syndrome (also known as mandibulofacial dysostosis) and where to get help.

Ichthyosis

Ichthyosis is a term used for a group of conditions that affect the skin, making it rough and scaly. The name comes from the Greek for ‘fish’ as sometimes the skin may look a little bit like fish scales. This information sheet from Great Ormond Street Hospital (GOSH) explains the skin condition ichthyosis – what causes it, its symptoms and treatment and where to get help. 

Carpenter syndrome

This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Carpenter syndrome (also known as acrocephalopolysyndactyly type 2 or ACPS II) and where to get help. Carpenter syndrome is a type of craniosynostosis named after the doctor who first described the condition.

Apert syndrome

Apert syndrome is a type of complex craniosynostosis named after the doctor who first described it in the early 20th century. This information sheet from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Apert syndrome and where to get help.

Muenke syndrome

Muenke syndrome is a type of complex craniosynostosis named after the doctor who first described it in the mid-1990s. This page from Great Ormond Street Hospital (GOSH) explains the causes, symptoms and treatment of Muenke syndrome (also known as FGFR3 associated craniosynostosis or P250arg mutation) and where to get help.