Kbg Syndrome (KBGS)

External Ids:

Disease Ontology 12 DOID:14780 OMIM 56 148050 KEGG 36 H02327 MeSH 43 C537015 D001848 D008607 D014071 more MESH via Orphanet 44 C537015 ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 72 C0220687 Orphanet 58 ORPHA2332 MedGen 41 C0220687 SNOMED-CT via HPO 68 111266001 11731003 123983008 128602000 128613002 17268007 194021007 194417009 204878001 22006008 22066006 224958001 228156007 237836003 246545002 246803005 247578003 248409006 253207002 263681008 271611007 274521009 275480001 313307000 373413006 63567004 64217002 69056000 708670007 71485000 72535009 78164000 84757009 87979003 91138005 91175000 95427009 more UMLS 71 C0220687

Genetics Home Reference : ²⁵ 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 16q24.3 microdeletion syndrome and alacrima, achalasia, and mental retardation syndrome. An important gene associated with Kbg Syndrome is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and short neck

Disease Ontology : ¹² 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.

NIH Rare Diseases : ⁵² 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 .

OMIM : ⁵⁶ KBG syndrome 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)

KEGG : ³⁶ KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease.

UniProtKB/Swiss-Prot : ⁷³ KBG syndrome: 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.

Wikipedia : ⁷⁴ KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene. Features include... more...

GeneReviews: NBK487886

Clinical features from OMIM:

148050

Search Clinical Trials , NIH Clinical Center for Kbg Syndrome

Search GEO for disease gene expression data for Kbg Syndrome.