Mohr syndrome

Mohr syndrome, also known as Orofaciodigital Syndrome II (OFD II), is a rare genetic disorder characterized by specific malformations of the oral cavity, face, and digits. It is one of the many types of Orofaciodigital syndromes (OFDs), a group of conditions that affect the development of the oral cavity, facial features, and digits (fingers and toes).

Clinical Features

The clinical features of Mohr syndrome can vary greatly among affected individuals. However, common features include:

• Oral abnormalities: These may include a split (cleft) or high-arched palate, extra (supernumerary) teeth, and a tongue that is lobed or split.
• Facial abnormalities: These may include widely spaced eyes (hypertelorism), a broad nasal bridge, and a cleft lip.
• Digital abnormalities: These may include extra fingers or toes (polydactyly), webbed fingers or toes (syndactyly), and short fingers or toes (brachydactyly).

Genetics

Mohr syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

The syndrome is caused by mutations in the OFD1 gene, which provides instructions for making a protein that is involved in the formation of cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in cell movement and signaling.

Diagnosis

Diagnosis of Mohr syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Mohr syndrome. Treatment is symptomatic and supportive, and may include surgery to correct oral or digital abnormalities, dental care to manage oral abnormalities, and physical and occupational therapy to help with mobility and self-care.

See Also

• Orofaciodigital syndrome
• Autosomal recessive inheritance
• OFD1

NIH genetic and rare disease info

• NIH info on Mohr syndrome

Mohr syndrome is a rare disease.

Mohr syndrome Resources
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