ANKRD11 -Related KBG Syndrome

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,...

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.

1. 01KBG syndrome is caused by pathogenic variants in ANKRD11 and follows an autosomal dominant inheritance pattern.
2. 02Hearing loss — both conductive and sensorineural — is a recognised feature of KBG syndrome.
3. 03Other features include short stature, macrodontia (unusually large teeth), distinct facial features, and intellectual disability.
4. 04This is a GeneReviews reference entry, last updated June 2026, providing a comprehensive clinical overview rather than new trial data.
5. 05Audiology referral and monitoring are part of standard multidisciplinary management for affected individuals.

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