Home > D. Systemic pathology > Genetic and developmental anomalies > Kartagener syndrome

Kartagener syndrome

Wednesday 24 November 2004

Autosomal recessive syndrome associating situs inversus with dextrocardia, bronchiectasis and chronic sinusitis with polyposis.

Synopsis

- poorly aerated mastoids
- absence of frontal sinuses
- chronic sinusitis
- conductive deafness
- chronic otitis media
- corneal abnormalities
- rhinitis
- nasal polyps
- anosmia
- dextrocardia
- bronchiectasis
- pneumonia
- situs inversus
- asplenia
- male infertility
- decreased infertility in females
- communicating hydrocephalus
- immotile sperm
- immotile cilia
- absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy

Etiology

- 5p15-p14 (CILD3): mutations in the DNAH5 gene (MIM.603335), which maps to 5p15-p14

- DNAI1 germline mutations

- Chr.7: mutations in the DNAH11 gene (MIM.603339) (situs inversus totalis (MIM.270100) and primary ciliary dyskenesia)

- 9p21-p13 (CILD1): mutations in the gene encoding axonemal dynein intermediate chain (DNAI1) (MIM.604366)

- 19q13.3-qter (CILD2) (MIM.606763)

See also

- primary ciliary dyskinesia