Teebi Hypertelorism Syndrome (THS) is a rare hereditary disorder that primarily features craniofacial malformations.
Implicated genes:
(1) SPECC1L
(2) CDH11 at 16q21
Inheritance: autosomal dominant
Clinical features:
(1) hypertelorism
(2) prominent forehead
(3) downslanting palpebral fissures
(4) short nose with broad tip
(5) broad or depressed nasal root
(6) thin upper lip with everted lower lip
(7) small chin
(8) low-set ears
(9) short neck
(10) variable cardiac defects
(11) variable umbilical defects
(12) variable skeletal malformations
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Specialty: Genetics, Ophthalmology
