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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessKBG syndrome


Short information

Curated single gene sequence analysis according to the clinical suspicion KBG syndrome

Number of genes
1 Accredited laboratory test
Examined sequence length
8,0 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity

Informations about the disease

Clinical Comment

KBG syndrome affects multiple body systems. Abnormal facial features include macrodontia, brachycephaly, triangular face, hypertelorism, synophris, long philtrum and thin upper lip. Skeletal anomalies concern delayed bone age and often brachydactyly. The slow physical and mental development is accompanied by hyperactivity or autism spectrum disorder including mental retardation. Less common are hearing loss, seizures and heart defects. KBG syndrome is inherited in an autosomal dominant manner, but 2/3 of the mutations occur de novo, with deletions and insertions diagnosed as causative in nearly 30% of cases. The proportion of patients with clinical KBG findings without detectable ANKRD11 gene mutation is unknown. Therefore, a negative molecular genetic result does not represent exclusion of the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK487886/


  • Macrodontia, mental retardation, characteristic facies, short stature, skeletal anomalies (ANKRD11)
  • Short stature-facial + skeletal anomalies-intellectual disability-macrodontia syndrome (ANKRD11)
Heredity, heredity patterns etc.
  • AD
ICD10 Code

Bioinformatics and clinical interpretation

No text defined