Orofaciodigital syndrome type 2

Orofaciodigital syndrome type 2 (OFD2), also known as Mohr syndrome, is a rare genetic disorder characterized by abnormalities of the mouth (oral), face (facial), and fingers and toes (digital). It belongs to the broader group of orofaciodigital syndromes but is distinguished by its autosomal recessive inheritance pattern and specific clinical features. Key oral findings include a lobulated or bifid tongue, midline cleft of the upper lip, cleft palate, and accessory frenula. Facial features may include a broad nasal root, frontal bossing, and midline cleft lip. Digital abnormalities are prominent and include bilateral polydactyly (extra fingers or toes), particularly postaxial polydactyly of the hands and feet, as well as brachydactyly (short digits) and syndactyly (fused digits). Some patients may also exhibit conductive hearing loss, which is an important distinguishing feature from other OFD subtypes. Mild intellectual disability has been reported in some cases but is not a consistent finding. Additional features may include episodic neuromuscular disturbances and, in some cases, midline brain abnormalities. There is no cure for OFD syndrome type 2, and management is symptomatic and supportive. Treatment typically involves a multidisciplinary approach including surgical correction of cleft lip and palate, removal or correction of extra digits, speech therapy, hearing aids or surgical intervention for hearing loss, and dental care. Regular developmental monitoring is recommended, particularly in early childhood. Genetic counseling is advised for affected families.

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