Mohr Syndrome, also known as Orofaciodigital Syndrome II (OFD2), is a rare genetic disorder characterized by a combination of orofacial (mouth and face), digital (fingers and toes), and central nervous system abnormalities. It is inherited in an X-linked recessive pattern, meaning that the condition predominantly affects males, while females typically exhibit milder symptoms.
The syndrome is named after the German physician Julius Mohr, who first described the condition in 1941. Mohr Syndrome is caused by mutations in the OFD1 gene, which is located on the X chromosome. This gene provides instructions for the production of a protein involved in the development and functioning of various organs and tissues.
The specific symptoms of Mohr Syndrome vary among affected individuals, but may include cleft lip and/or palate, tongue abnormalities, notched or fused nostrils, extra or missing fingers and/or toes, abnormal nail development, intellectual disability, seizures, and delayed development. Additionally, individuals with Mohr Syndrome may exhibit distinct facial features such as a broad nasal bridge, widely spaced eyes, a small jaw, and low-set ears.
Since Mohr Syndrome affects multiple systems in the body, treatment often involves a multidisciplinary approach involving various specialists such as plastic surgeons, orthopedic surgeons, speech therapists, and psychologists. The aim is to manage the symptoms, provide supportive care, and improve the quality of life for affected individuals.
In conclusion, Mohr Syndrome is a rare genetic disorder characterized by a combination of orofacial, digital, and central nervous system abnormalities. Although there is no cure, early diagnosis and appropriate interventions can help manage the symptoms and support affected individuals.
