Richieri Costa Pereira syndrome

December 31, 2014

Overview

A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.

Symptoms

Curved fifth finger Underdeveloped thumb Low set ears Clubfoot Short stature

Treatment

Treat the underlying condition Growth hormone therapy –Indicated in GHD and some other forms of short stature (renal failure, Turner syndrome, Prader-Willi syndrome, small-for-gestational age without catch-up growth) –Earlier initiation to optimize final height outcome –Nightly subcutaneous administration of GH at 25–50 µ g/kg/day o Monitor for loss of other pituitary hormones and replace all deficiencies o Monitoring growth hormone therapy –Close follow-up with pediatric endocrinologist every 3–6 months –Monitor side effects of GH treatment –Monitor serum IGF-I and IGFBP-3 levels –Dose adjustments based on IGF values and growth response