Saethre-Chotzen Syndrome is a rare disorder that is classified as an acrocephalondactyly.
Chromosome location: 7p21.1
Gene affected: TWIST1 (Twist-related protein 1)
Inheritance: autosomal dominant
Common clinical features:
(1) craniosynostosis, usually of the coronal suture (unilateral or bilateral)
(2) facial asymmetry
(3) strabismus
(4) ptosis
(5) ear deformity (small pinna with prominent superior and/or inferior crus) with hearing loss
(6) syndactyly of fingers 2 and 3
(7) low frontal hairline
Occasional features:
(1) intellectual changes with large genomic deletions
(2) skeletal defects (parietal foramina, vertebra, lmibs)
(3) hypertelorism
(4) palate defects
(5) obstructive sleep apnea
(6) short stature
(7) increased intracranial pressure (intracranial hypertension)
(8) congenital heart disease
