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KBG syndrome

Synonyms
Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: KBG Syndrome
KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual disability, and behavioral issues. Affected individuals may have feeding difficulties (particularly in infancy), skeletal anomalies (brachydactyly, large anterior fontanelle with delayed closure, scoliosis), hearing loss (conductive, mixed, and sensorineural), seizure disorder, and brain malformations. There is significant variability in the clinical findings, even between affected members of the same family.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Dayna Morel Swols
Mustafa Tekin
view full author information

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANCO-1, ANCO1, LZ16, T13, ANKRD11
    Summary: ankyrin repeat domain containing 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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