Mandibulofacial dysostosis with microcephaly

Disease Overview

Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.[9391][9392]

Synonyms

• MFDM syndrome
• Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome
• MFDGA
• MFDM
• Mandibulofacial dysostosis-microcephaly syndrome
• Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate
• Mandibulofacial dysostosis, Guion-Almeida type