STAR Syndrome is associated with a number of clinical findings. According to Guen et al (2016) it is a ciliopathy.
Chromosome: Xq28
Gene review: CCNQ (cyclin Q)
Synonym: FAM58A
Protein: CDK10 (cyclin-dependent kinase)/CycM (cyclin M)
Inheritance: X-linked dominant (primarily affects females, with mother-daughter pairs)
Key features:
(1) syndactyly (S)
(2) telecanthus (T)
(3) anogenital malformations (A): anal stenosis, clitoromegaly
(4) renal malformations (R): bilateral renal hypoplasia, ureteral reflux, urogenital sinus
Variant features:
(1) tethered spinal cord
(2) hearing loss
(3) congenital heart disease
(4) ophthalmic findings (soft macular Drusen, optic nerve hypoplasia, peripheral anterior synechia, mild peripapillary atrophy. medial upper eyelid prominences with madorosis (loss of eyelashes)
