Kbg syndrome - CISMeF

Preferred Label : Kbg syndrome;

Symbol : KBGS;

CISMeF acronym : KBGS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies;

Description : 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ankyrin repeat domain-containing protein 11 gene (ANKRD11, 611192.0001);

Prefixed ID : #148050;

Details

Origin ID

148050;

UMLS CUI

C0220687;

Automatic exact mappings (from CISMeF team)
- KBG syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- KBG syndrome [DO Concept]
- KBG syndrome [Disease (Nov.)]
- KBG syndrome [ICD-11 More detail]
- KBG syndrome [MeSH concept]
- KBG syndrome [MeSH Supplementary Concept]
- KBG syndrome [ORDO Disease]
- Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- KBG syndrome [DO Concept]
Genes related to phenotype
- Ankyrin repeat domain-containing protein 11 [OMIM gene]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cervical ribs [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Delayed skeletal maturation [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Large, prominent ears [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Low anterior hairline [HPO term]
- Low posterior hairline [HPO term]
- Macrodontia [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Oligodontia [HPO term]
- Radial deviation of finger [HPO term]
- Rib fusion [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Single transverse palmar crease [HPO term]
- Syndactyly [HPO term]
- Telecanthus [HPO term]
- Thick eyebrow [HPO term]
- Thoracic kyphosis [HPO term]
- Triangular face [HPO term]
- Underdeveloped nasal alae [HPO term]
- Vertebral arch anomaly [HPO term]
- Vertebral fusion [HPO term]
- Widely-spaced maxillary central incisors [HPO term]
- broad, bushy eyebrows [HPO term]
- triangular facies later in life [HPO term]
ORDO concept(s)
- KBG syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- KBG syndrome [ORDO Disease]
- KBG syndrome [MeSH Supplementary Concept]
- KBG syndrome [MeSH concept]
- KBG syndrome [DO Concept]
- KBG syndrome [Disease (Nov.)]
- KBG syndrome [MedDRA Preferred Term]
- Short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome (disorder) [SNOMED CT concept]

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