What is Kleefstra syndrome?
2017年5月15日 · Kleefstra syndrome (Ks) is a rare genetic disorder characterised by intellectual disability, often accompanied by a spectrum of complex physical and clinical features. The predominant cause of Ks is a tiny piece missing (known as a deletion) from near the end of chromosome 9.
Kleefstra Syndrome - Symptoms, Causes, Treatment | NORD
2023年8月25日 · KMT2C-associated syndrome, also known as “Kleefstra syndrome-2,” is a rare neurodevelopmental disorder inherited in an autosomal dominant pattern. The main symptoms of the syndrome include intellectual disability and developmental delay.
Kleefstra Syndrome - Boston Children's Hospital
Kleefstra syndrome is a rare genetic condition that affects development and involves many body systems. People with Kleefstra syndrome usually have distinct facial features, developmental delay, intellectual disability, low muscle tone (hypotonia), and communication difficulties.
Kleefstra syndrome | About the Disease | GARD - Genetic and …
A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.
Kleefstra syndrome - MedlinePlus
Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone (hypotonia).
Kleefstra Syndrome - GeneReviews® - NCBI Bookshelf
2010年10月5日 · Kleefstra syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features.
Kleefstra Syndrome Clinic - Boston Children's Hospital
The Kleefstra Syndrome Clinic at Boston Children’s Hospital is at the forefront of research and treatment for children and adolescents with Kleefstra syndrome. Children with Kleefstra syndrome present with a wide range of symptoms but commonly display: …
9q34.3 deletion syndrome - Wikipedia
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q 34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip.
Kleefstra syndrome: Cracking the code - Boston Children's Answers
2023年2月28日 · Because severe sleep disruption strikes 50 to 90 percent of teens with Kleefstra syndrome, Dr. Srivastava wants to better understand it. Does it cause or contribute to cognitive and behavioral regression?
Orphanet: Kleefstra syndrome
Kleefstra syndrome. A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.