Kabuki syndrome
Record ID 32013000318
English
Authors' recommendations:
Kabuki syndrome (KS) occurs in 1 in 32,000 to 86,000 births in both sexes and has been reported in nearly all ethnicities. Individuals with KS have a characteristic facial appearance that resembles the features of Japanese Kabuki theater actors. The space between upper and lower eyelids is elongated and the lateral third of the lower lid is typically turned out; eyebrows are arched, broad, and notched or sparse; the nose is short and broad; and ears are prominent and often cupped. Other symptoms nearly always associated with a diagnosis of KS include skeletal irregularities, prominent fingertip pads, intellectual delay, and slowed postnatal growth. KS patients may also have heart defects; genitourinary and gastrointestinal irregularities; hypermobile joints; cleft lip/palate and associated feeding difficulties; misaligned eyes with drooping lids; poorly developed teeth; ear pits; seizures; hearing loss; autoimmune disorders; increased susceptibility to infections, particularly of the ear; and premature breast budding in females. Treatment of KS is symptom driven. As clinical manifestations are not fatal, life expectancy may be normal, although potentially affected by secondary complications. KS has been linked to sequence variants in the myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2) gene. MLL2 encodes a protein important to the regulation of gene transcription and chromatin structure in early development. MLL2 variants such as those associated with KS likely lead to a deficiency in the amount of normal MLL2 protein. While the majority of KS cases have been reported in individuals with no family history of KS, some familial cases have been identified and suggest an autosomal dominant pattern of inheritance.
Details
Project Status:
Completed
Year Published:
2013
URL for published report:
The report may be purchased from:http://www.hayesinc.com/hayes/crd/?crd=14746
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Child
- Face
Contact
Organisation Name:
HAYES, Inc.
Contact Address:
157 S. Broad Street, Suite 200, Lansdale, PA 19446, USA. Tel: 215 855 0615; Fax: 215 855 5218
Contact Name:
saleinfo@hayesinc.com
Contact Email:
saleinfo@hayesinc.com
Copyright:
2013 Winifred S. Hayes, Inc
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.