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Find your community on the free RareGuru App.KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically.
Source: GARD Last updated on 05-01-20
KBG syndrome is often characterized by distinctive facial features, skeletal abnormalities, short stature, large upper teeth (macrodontia), and developmental delay or intellectual disability. However, the number and severity of symptoms can vary.
Characteristic features of the head and face may include a wide, short skull (brachycephaly); triangular face shape; widely spaced eyes (hypertelorism); wide eyebrows that may connect (synophrys); prominent nasal bridge; a long space between the nose and upper lip; and a thin upper lip. In addition to macrodontia, affected people may have jagged or misaligned teeth and/or other abnormalities of the bones or sockets of the jaw.
Skeletal abnormalities most often affect the limbs, spine, and/or ribs. Affected people often have delayed bone age. Other signs and symptoms that have been less commonly reported include seizures; syndactyly; a webbed, short neck; undescended testes (cryptorchidism); hearing loss; defects of the palate (roof of the mouth); strabismus; and congenital heart defects.
Last updated on 05-01-20
While feeding difficulties have been mentioned in a few reports about people with KBG syndrome, the exact nature of these difficulties has not been well- described. For example, one article discusses a female patient that was “slow to feed” leading to failure to thrive as an infant, and another female that "had feeding problems." Another article discusses a male patient that "had neonatal feeding difficulties" and his twin brother who had "feeding difficulties similar to those of his brother." A third article described a male infant for which "poor feeding and suck were noted during the first 3 months." We are not aware of information regarding the cause of feeding difficulties in some people with KGB syndrome. It is unclear whether the feeding difficulties have a common cause or are due to specific features in each person (e.g. neurological deficits, poor muscle tone, delayed motor development, or abnormalities within the oral cavity or upper airway).
Last updated on 05-01-20
You can find relevant articles on KBG syndrome through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher’s Web site.
Using "KBG syndrome" as your search term should help you locate articles. Use the advanced search feature to narrow your search results. View a sample search for articles about KBG syndrome here.
The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link: http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.
Last updated on 05-01-20
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