Maroteaux Fonfria syndrome

Overview

A rare congenital disorder characterized by extra little fingers and extra big toes as well as the normal features associated with Apert syndrome.

Symptoms

* Extra little fingers * Extra big toe * Premature fusion of skull bones * Abnormal skull shape * Flat face

Causes

* 46,XX chromosome 7 deletion p13 * Acrocephalosyndactyly * Acrocephalosyndactyly II * Adducted thumb syndrome recessive form * Agammaglobulinemia - microcephaly * 4p16.3 deletion * Acalvaria * Acroosteolysis dominant type * Adams * Anencephaly