Blepharophimosis syndrome Ohdo type
Overview
An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.
Symptoms
* Drooping upper eyelid * Short eyelid * Mental retardation * Congenital hypothyroidism * Small head * Neurological anomalies * Congenital heart disease * Underdeveloped teeth
Causes
Apart from the original report, all cases have been single cases, other than one possible case of a parent to child transmission. It is possible that Ohdo syndrome represents a microdeletion syndrome of chromosome material.
Diagnosis
Recurrence risk seems to be very low. The risk for the offspring of affected individuals may be higher, approaching fifty per cent. Detailed ultrasound scanning in subsequent pregnancies, looking particularly for heart and brain defects and for hydramnios due to impaired swallowing, may be offered.