Oral-facial-digital syndrome type 3

Oral-Facial-Digital Syndrome Type 3 Oral-Facial-Digital Syndrome Type 3 (OFD3) is a rare genetic disorder that is part of a group of conditions known as oral-facial-digital syndromes. These syndromes are characterized by malformations of the face, oral cavity, and digits. OFD3 is also known as Sugarman syndrome.

Clinical Features

Individuals with OFD3 typically present with a combination of features affecting the oral cavity, facial structure, and digits. Common clinical features include:

• Oral Anomalies: Cleft lip and/or palate, tongue abnormalities such as lobulated or bifid tongue, and dental anomalies.
• Facial Dysmorphisms: Hypertelorism (wide-set eyes), broad nasal bridge, and micrognathia (small jaw).
• Digital Anomalies: Syndactyly (fusion of fingers or toes), brachydactyly (short fingers or toes), and polydactyly (extra fingers or toes).

Genetic Basis

OFD3 is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. The specific gene associated with OFD3 has not been definitively identified, but it is believed to involve genes that play a role in the development of the oral, facial, and digital regions during embryogenesis.

Diagnosis

Diagnosis of OFD3 is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to rule out other types of oral-facial-digital syndromes and to confirm the diagnosis if the causative gene is known.

Management

There is no cure for OFD3, and treatment is symptomatic and supportive. Management may involve:

• Surgical Interventions: To correct cleft lip/palate and other structural anomalies.
• Dental Care: Regular dental evaluations and interventions to address dental anomalies.
• Speech Therapy: To assist with speech difficulties due to oral anomalies.

Prognosis

The prognosis for individuals with OFD3 varies depending on the severity of the symptoms and the presence of any associated complications. With appropriate management, many individuals can lead relatively normal lives.

See Also

• Oral-facial-digital syndrome type 1
• Oral-facial-digital syndrome type 2
• Syndactyly
• "Oral-Facial-Digital Syndrome Type 3." Genetic and Rare Diseases Information Center (GARD).
• "Sugarman Syndrome." Online Mendelian Inheritance in Man (OMIM).

NIH genetic and rare disease info

• NIH info on Oral-facial-digital syndrome type 3

Oral-facial-digital syndrome type 3 is a rare disease.