CLINICAL CHARACTERISTICS: ANKRD11 -related KBG syndrome is characterized by macrodontia (particularly of the upper central incisors), characteristic facial features (triangular face; widely spaced eyes; long philtrum; nasal anomalies including prominent nasal bridge, bulbous nose, and/or anteverted nares; bushy, wide, and/or thick eyebrows; synophrys), postnatal short stature, skeletal anomalies (brachydactyly,...
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Discussion
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Audiologists seeing patients with KBG syndrome should be aware that hearing loss (both conductive and sensorineural) is a recognised feature; however, this GeneReviews reference article does not introduce new clinical guidance that would change current audiological management.
Understanding the audiological profile of ANKRD11-related KBG syndrome helps audiologists contribute to multidisciplinary care for this rare genetic condition where hearing loss is a key comorbidity.
- 01KBG syndrome is caused by pathogenic variants in ANKRD11 and follows an autosomal dominant inheritance pattern.
- 02Hearing loss — both conductive and sensorineural — is a recognised feature of KBG syndrome.
- 03Other features include short stature, macrodontia (unusually large teeth), distinct facial features, and intellectual disability.
- 04This is a GeneReviews reference entry, last updated June 2026, providing a comprehensive clinical overview rather than new trial data.
- 05Audiology referral and monitoring are part of standard multidisciplinary management for affected individuals.
ANKRD11 pathogenic variants cause KBG syndrome, which includes hearing loss as a clinical feature.
guidelinesupportedKBG syndrome is characterised by multiple features including short stature, macrodontia, and intellectual disability.
guidelinesupported- PMID
- 29565525
- Journal
- GeneReviews (NCBI Bookshelf)
- Publication type
- review
- Evidence level
- 5
- Population
- Individuals with ANKRD11-related KBG syndrome across age groups
- Intervention
- ANKRD11 genetic variant characterisation and clinical feature description
Primary outcomes
Clinical characterisation of KBG syndrome features including hearing loss; Diagnostic criteria and management recommendations