Orofaciodigital syndrome

A group of genetic disorders affecting the development of the face, oral cavity, and digits

Orofaciodigital syndrome (OFD) refers to a group of rare genetic disorders characterized by malformations of the face, oral cavity, and digits. These syndromes are primarily inherited in an X-linked dominant pattern and are known for their clinical variability. The most well-known type is Orofaciodigital syndrome type I, but there are several other types, each with distinct genetic causes and clinical features.

Classification

Orofaciodigital syndromes are classified into several types based on their genetic and phenotypic characteristics. The most common types include:

• Orofaciodigital syndrome type I (OFD1): This is the most prevalent form and is caused by mutations in the OFD1 gene located on the X chromosome. It is characterized by facial dysmorphisms, oral cavity anomalies, and digital malformations.
• Orofaciodigital syndrome type II (Mohr syndrome): This type is autosomal recessive and involves similar features to OFD1 but with additional anomalies such as polydactyly.
• Orofaciodigital syndrome type III (Sugarman syndrome): This type includes features like cleft lip and palate, and is also autosomal recessive.

Clinical Features

The clinical presentation of orofaciodigital syndromes can vary widely, but common features include:

Facial Anomalies

• Hypertelorism (increased distance between the eyes)
• Broad nasal bridge
• Cleft lip and/or palate

Oral Cavity Anomalies

• Lobulated tongue
• Multiple oral frenula
• Clefts or pseudoclefts in the alveolar ridge

Digital Anomalies

• Brachydactyly (short fingers)
• Syndactyly (fusion of fingers or toes)
• Polydactyly (extra fingers or toes)

An example of digital anomalies in OFD syndrome

Genetics

Orofaciodigital syndromes are primarily caused by mutations in genes that are involved in the development of the face, oral cavity, and digits. The OFD1 gene, responsible for type I, encodes a protein that is involved in the formation of primary cilia, which are essential for cell signaling during embryonic development.

Diagnosis

Diagnosis of orofaciodigital syndrome is based on clinical evaluation, family history, and genetic testing. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes.

Management

There is no cure for orofaciodigital syndromes, and treatment is primarily supportive and symptomatic. Management may include:

• Surgical correction of cleft lip and palate
• Orthodontic treatment for dental anomalies
• Physical therapy for motor skills development

Prognosis

The prognosis for individuals with orofaciodigital syndrome varies depending on the type and severity of the condition. Early intervention and supportive care can improve quality of life and functional outcomes.

Related pages

• Genetic disorder
• Cleft lip and palate
• Polydactyly