Oculotrichodysplasia
Oculotrichodysplasia
Definition
Oculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
Also known as Cecato de Lima-Pinheiro syndrome, oculotrichodysplasia — per MONDO