Which are the symptoms of Oral-Facial-Digital Syndrome?

Symptoms of Oral-Facial-Digital Syndrome

Oral-Facial-Digital Syndrome (OFDS) is a rare genetic disorder that affects the development of the face, oral cavity, and digits. It is characterized by a wide range of symptoms that can vary in severity from person to person. While there are several types of OFDS, they all share some common features. Here are some of the key symptoms associated with this syndrome:

Facial Abnormalities:

Individuals with OFDS often exhibit distinct facial abnormalities, which may include:

• Cleft lip or palate: A split or opening in the upper lip or roof of the mouth.


• Wide-set eyes: Eyes that are spaced farther apart than normal.


• Small nose: A nose that is smaller in size or has an unusual shape.


• Micrognathia: A small jaw that may cause difficulties with breathing and feeding.

Oral Manifestations:

OFDS can also affect the oral cavity, leading to various oral manifestations, such as:

• Tongue abnormalities: Tongue may be bifid (split) or have unusual shape or size.


• Dental abnormalities: Irregularly shaped, missing, or extra teeth, as well as dental crowding.


• High-arched palate: A narrow and arched roof of the mouth.


• Speech difficulties: Impaired speech due to structural abnormalities in the mouth.

Digital Anomalies:

Individuals with OFDS often have abnormalities in their digits (fingers and toes), including:

• Polydactyly: Extra fingers or toes.


• Brachydactyly: Shortened fingers or toes.


• Syndactyly: Fused or webbed fingers or toes.


• Clinodactyly: Curved or bent fingers or toes.

Other Associated Features:

In addition to the above symptoms, individuals with OFDS may also experience:

• Intellectual disability: Some individuals may have varying degrees of intellectual impairment.


• Kidney abnormalities: Certain types of OFDS can be associated with kidney malformations.


• Central nervous system abnormalities: Some individuals may have brain abnormalities or developmental delays.


• Hearing loss: Sensorineural hearing loss can occur in some cases.


• Vision problems: Eye abnormalities, such as retinal or optic nerve defects, may be present.

It is important to note that the severity and combination of symptoms can vary widely among individuals with OFDS. Some individuals may only exhibit mild features, while others may have more pronounced abnormalities. Early diagnosis and appropriate medical management can help address specific symptoms and improve the quality of life for individuals with OFDS.