Heart defect-tongue hamartoma-polysyndactyly syndrome

Heart defect-tongue hamartoma-polysyndactyly syndrome, also known as oral-facial-digital syndrome type IV (OFD IV) or Mohr-Majewski syndrome, is an extremely rare congenital malformation syndrome characterized by the combination of congenital heart defects, hamartomas (benign tumor-like growths) of the tongue, and polysyndactyly (extra digits that may also be fused together). This condition affects multiple body systems including the cardiovascular system, the oral cavity, and the skeletal system, particularly the hands and feet. Additional features may include other oral findings such as lobulated tongue, lingual nodules, and cleft palate or lip, as well as various limb anomalies including tibial dysplasia and short limbs. The condition is present at birth and is typically recognized in the neonatal period based on the characteristic combination of physical findings. Congenital heart defects associated with this syndrome can vary in type and severity. The skeletal abnormalities, particularly polysyndactyly, are among the most recognizable features. Some patients may also exhibit facial dysmorphism and central nervous system anomalies. Treatment is symptomatic and supportive, as there is no cure for the underlying condition. Management typically involves a multidisciplinary approach including cardiac surgery or intervention for significant heart defects, surgical correction of polysyndactyly and other limb anomalies, and removal of tongue hamartomas if they interfere with feeding or breathing. Prognosis depends largely on the severity of the cardiac and other organ involvement. Genetic counseling is recommended for affected families.

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