MedlinePlus Genetics:
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KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability.A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum), and a thin upper lip.A common skeletal abnormality in people with KBG syndrome is slowed mineralization of bones (delayed bone age); for example, an affected 3-year-old child may have bones more typical of a child of 2. In addition, affected individuals can have abnormalities of the bones of the spine (vertebrae) and ribs. They can also have abnormalities of the bones of the hands or feet, including unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, respectively) and flat feet (pes planus). Most affected individuals are shorter than average from birth.Development of mental and movement abilities is also delayed in KBG syndrome. Most affected individuals learn to speak and walk later than normal and have mild to moderate intellectual disability. Most people with this condition have behavioral or emotional problems, such as hyperactivity; anxiety; or autism spectrum disorder, which is characterized by impaired communication and social interactions.Less common features of KBG syndrome include hearing loss, seizures, and heart defects.
MalaCards based summary:
Kbg Syndrome, also known as macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies, is related to hypertelorism and 16q24.3 microdeletion syndrome. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain Containing 11), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and 22q11.2 copy number variation syndrome. Affiliated tissues include bone, heart and kidney, and related phenotypes are scoliosis and short neck
GARD:
19
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 genetic change 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.
OMIM®:
57
KBG syndrome (KBGS) is characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability (summary by Sirmaci et al., 2011). Sirmaci et al. (2011) noted that it is likely that KBG syndrome is underdiagnosed, since many of the features, including intellectual disability, are mild, and none of the features is a prerequisite for diagnosis. (148050) (Updated 08-Dec-2022)
UniProtKB/Swiss-Prot:
73
A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.
Disease Ontology:
11
A syndrome that is 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.
Orphanet:
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A rare congenital malformation syndrome characterized by a typical facial dysmorphism, macrodontia of the permanent upper central incisors, short stature, skeletal anomalies, developmental delay and behavioral abnormalities.
Wikipedia:
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KBG syndrome is a rare genetic disease that is the result of a mutation in the ANKRD11 gene at location... more...
Rare neurological diseases 
