Kbg Syndrome (KBGS)

External Ids:

OMIM 57 148050 Disease Ontology 12 DOID:14780 MeSH 44 C537015 D001848 D008607 D014071 more Orphanet 59 ORPHA2332 MESH via Orphanet 45 C537015

UMLS via Orphanet 74 C0220687 ICD10 via Orphanet 34 Q87.8 MedGen 42 C0220687 SNOMED-CT via HPO 69 263681008 204878001 271611007 194021007 22006008 275480001 69056000 708670007 246803005 72535009 248409006 373413006 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 224958001 71485000 123983008 237836003 17268007 more UMLS 73 C0220687

NIH Rare Diseases : ⁵³ 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.

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 Regulation / Acetylation and MECP2 and Associated Rett Syndrome. Affiliated tissues include bone, heart and eye, and related phenotypes are hypertelorism and clinodactyly

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.

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.

OMIM : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ 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.