The main clinical features include erythematous linear skin defects mainly affecting the face and neck. These lesions undergo reepithelialization and heal with age leaving only scars in the affected skin districts. Facial dysmorphisms may also be observed including hypertelorism, high forehead, microcephaly, asymmetric face. Short stature can be observed. Cardiac abnormalities may be present as well as digit defects and malformation of the kidneys. Involvement of the central nervous system has been reported with malformations affecting the central nervous system (thin corpus callosum, delayed myelination) and different extent of mental retardation. The disorder is characterized by an extreme phenotypic variability possibly linked to X-inactivation and cell selection mechanisms.
COX7B