Martinez Monasterio Pinheiro syndrome

Martinez Monasterio Pinheiro syndrome is a very rare form of blepharo-cheilo-dontic syndrome. It is marked by features such as cleft lip and palate, abnormalities with the teeth including complete absence of deciduous teeth and reduced number of permanent teeth, as well as hair alterations. Additional findings include wide-spaced eyes (hypertelorism), underdevelopment of the midface, abnormal EEG readings, syndactyly (fusion of fingers or toes), and other physical features. Only one patient or family has been described with this condition, which makes it an extremely rare case.

People with this condition may have cleft lip and palate, no baby teeth, fewer permanent teeth, and hair alterations. They can also present with wide-set eyes, midface underdevelopment, abnormal EEG findings, and syndactyly. Other symptoms have been noted but details are based on a single case.

Information about causes is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Research on Martinez Monasterio Pinheiro syndrome is minimal due to the condition being reported in only one patient or family. Future studies are needed to better understand its causes, diagnosis, and treatment.