Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene that constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. [From OMIM]
Zaytoun et al (2002) descried four patients with Otopalatodigital syndrome. All four were born to consanguineous parent. Three of the patients were siblings, while the fourth wa unrelated. The patients expressed a wide range of variation in their clinical expressions of the syndrome.