Orofaciodigital syndrome type 2

Orofaciodigital Syndrome Type 2

Orofaciodigital syndrome type 2 (OFD2), also known as Mohr syndrome, is a rare genetic disorder characterized by malformations of the face, oral cavity, and digits. It is one of several types of orofaciodigital syndromes, which are a group of disorders that affect the development of the oral cavity, facial features, and digits.

Clinical Features

Individuals with OFD2 typically present with a range of clinical features, which may include:

• Oral anomalies: These can include cleft lip and/or palate, lobulated tongue, and dental abnormalities such as missing teeth or extra teeth.
• Facial dysmorphisms: Features may include a broad nasal bridge, hypertelorism (wide-set eyes), and a high forehead.
• Digital anomalies: Polydactyly (extra fingers or toes), syndactyly (webbing of fingers or toes), and brachydactyly (short fingers or toes) are common.
• Other features: Some individuals may have hearing loss, intellectual disability, and kidney abnormalities.

Genetics

Orofaciodigital syndrome type 2 is inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the mutated gene, one from each parent. The specific gene associated with OFD2 has not been definitively identified, but it is distinct from the gene responsible for Orofaciodigital syndrome type 1, which is located on the X chromosome.

Diagnosis

Diagnosis of OFD2 is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other types of orofaciodigital syndromes.

Management

Management of OFD2 is symptomatic and supportive. It may involve:

• Surgical interventions: To correct cleft lip/palate and other structural anomalies.
• Dental care: Regular dental evaluations and treatments to address dental anomalies.
• Hearing support: Hearing aids or other interventions for those with hearing loss.
• Developmental support: Early intervention programs and educational support for individuals with intellectual disabilities.

Prognosis

The prognosis for individuals with OFD2 varies depending on the severity of the symptoms and the presence of associated anomalies. With appropriate medical care and support, many individuals can lead fulfilling lives.

Also see

• Orofaciodigital syndrome
• Orofaciodigital syndrome type 1
• Polydactyly
• Cleft lip and palate

NIH genetic and rare disease info

• NIH info on Orofaciodigital syndrome type 2

Orofaciodigital syndrome type 2 is a rare disease.

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