You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

KBG Syndrome

Synonyms of KBG Syndrome

  • Short Stature, Facial/Skeletal Anomalies-Retardation-Macrodontia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

KBG syndrome is a very rare genetic disorder characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. Abnormalities of the head and face (craniofacial dysmorphism) and malformations of the teeth and jaws (dento- skeletal dysplasia) may also be present. The exact cause of KBG syndrome is unknown, but most cases are believed to be autosomal dominant traits with variable degree of penetrance.


Children with KBG syndrome may display characteristic physical abnormalities of the head and face (craniofacial dysmorphism). Fibrous joints (coronal sutures) between certain cranial bones of the skull may close prematurely; as a result, the head may appear unusually broad, short, and/or rounded. Characteristic facial features may include eyes that appear widely spaced (telecanthus) or crossed (strabismus); wide, bushy eyebrows; and/or thin, bow-shaped lips. Characteristic features may also include abnormally large teeth in comparison to the jaws (macrodontia); jagged, crowded, or misaligned teeth; and/or unusually short, flattened, supporting bones or sockets of the jaw (mandible) that house the teeth (alveolar ridges).

A child with KBG syndrome may also be of short stature, have speech and hearing impairments, and/or have mild to severe levels of mental retardation. In some cases, mental retardation may be attributed to a small head in relation to the rest of the body (microcephaly). Affected individuals may also display abnormal bone development (skeletal dysplasia) such as malformations of the bones of the spine (vertebrae); the shortened middle portion of the thigh bones (femoral neck); abnormally developed hip bones (hip dysplasia); and/or shortened, hollow finger bones (metacarpals).

In some cases, associated features may include a sunken, pushed-in appearance of the chest (pectus excavatum or "funnel chest"); webbing or fusion of the middle toes (syndactyly); a single deep crease across the palms of the hands (simian crease); and/or six fingers or toes on one limb (hexadactyly). The number and severity of these symptoms vary widely among affected individuals.


Most cases of KBG syndrome are thought to be inherited as an autosomal dominant trait with variable degree of penetrance. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Variable or incomplete penetrance means that some individuals who inherit the gene for a dominant disorder will not be affected or be only mildly affected with the disorder. In some cases, KBG syndrome may also be caused by spontaneous and random (sporadic) genetic changes (mutations) that occur for unknown reasons. These mutations would then be passed on as autosomal dominant traits.

Affected Populations

KBG syndrome is a very rare disorder that affects males and females; however, documented cases have shown a higher percentage of occurrence in males. Fewer than 20 cases have been reported in the medical literature. Characteristic symptoms are usually evident at birth (congenital). The first case of KBG syndrome was described in 1975.

Related Disorders

Symptoms of the following disorders can be similar to those of KBG syndrome. Comparisons may be useful for a differential diagnosis:

Filippi syndrome is a rare disorder characterized by an abnormally small head (microcephaly), a broad nasal base, and/or an unusual facial appearance. Symptoms may include various limb malformations such as webbed fingers and toes (syndactyly), permanently bent fingers (clinodactyly), and/or a single deep crease across the palms of the hands (simian crease). In males, the sexual organs may be underdeveloped and the testes may fail to normally descend into the scrotum (cryptorchidism). Mental retardation and speech impairment may be mild to severe. This disorder is thought to be inherited as an autosomal recessive trait. (For more information on this disorder, choose "Filippi" as your search term in the Rare Disease Database.)

Kabuki Make-up syndrome is a rare disorder characterized by unusual facial features such as an abnormally long opening between the upper and lower eyelids, outwardly-turned portions of the lower eyelids, and/or eyebrows that are highly arched. Symptoms may also include a broad, depressed nose tip; large, malformed ears; middle ear inflammation (otitis); and/or developmental abnormalities of the mouth. Affected individuals may also have skeletal abnormalities of the fingers and/or hips. Abnormalities of the spinal vertebrae may result in short body stature. Mental retardation may vary from mild to severe. The majority of cases of this disorder are thought to sporadically occur for no apparent reason; however, in other cases, this disorder may be inherited as an autosomal dominant trait. (For more information on this disorder, choose "Kabuki Make-up" as your search term in the Rare Disease Database.)

Standard Therapies

KBG syndrome may be detected at birth based on typical physical findings such as skeletal abnormalities and characteristic facial and dental features. Orthopedic surgery may be particularly helpful to correct hip and spine abnormalities of affected individuals. Hearing aids, speech therapy, and comprehensive dental care may also be beneficial.

A supportive team approach for children with KBG syndrome as well as genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010

For information about clinical trials sponsored by private sources, contact:

KBG Syndrome Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at

Other Organizations:


Magalini SI, et al., eds. Dictionary of Medical Syndromes. 4th ed.New York, NY: Lippincott-Raven Publishers; 1997:484.

Gorlin RJ, et al., eds. Syndromes of the Head and Neck, 3rd ed. New York, NY: Oxford University Press; 1990:840-1.

Buyce ML, ed. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; For: The Center for Birth Defects Information Services Inc; 1990:1000-01.

Dowling PA, et al. The KBG syndrome, characteristic dental findings: a case report. Int J Paediatr Dent. 2001;11:131-34.

Smithson SF, et al. The KBG syndrome. Clin Dysmorphol. 2000;9:87-91.

Mathieu M, et al. The KBG syndrome: an additional sporadic case. Genet Couns. 2000;11:33-35.

Soekarman D, et al. The KBG syndrome: follow-up data on three affected brothers. Clin Genet. 1994;46:283-86.

Zollarion M, et al. Six additional cases of the KBG syndrome: clinical reports and outline of the diagnostic criteria. Am J Med Genet. 1994;52:302-07.

Fryns JP, et al. Mental retardation, short stature, minor skeletal anomalies, craniofacial dysmorphism and macrodontia in two sisters and their mother. Another variant example of KBG syndrome? Clin Genet. 1984;26:69-72.

Parloir C, et al. Short stature, craniofacial dysmorphism, and dento-skeletal abnormalities in a large kindred. A variant of KBG syndrome or a new mental retardation syndrome. Clin Genet. 1977;12:263-66.

Hermann J, et al. The KBG syndrome - a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects. 1975;11:7-18.

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 148050; Last Update:7/10/00.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/04/25 00:00:00 GMT+0

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

Copyright ©2015 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .