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