Oral-Facial-Digital Syndrome

Definition

Oral-facial-digital (OFD) syndrome is a generic name for a variety of different genetic disorders that result in malformations of the mouth, teeth, jaw, facial bones, hands, and feet.

Description

Oral-facial-digital syndrome includes several different but possibly related genetic disorders. OFD syndromes are also referred to as digito-oro-facial syndromes. There are nine different OFD syndromes, identified as OFD syndrome type I, type II, and so on. OFD syndromes are so named because they all cause changes in the oral structures, including the tongue, teeth, and jaw; the facial structures, including the head, eyes, and nose; and the digits (fingers and toes). OFD syndromes are also frequently associated with developmental delay.

The different OFD syndromes are distinguished from each other based on the specific physical symptoms and the mode of inheritance. There are many alternate names for OFD syndromes. A partial list of these is:

• OFD syndrome type I: Gorlin syndrome I, Gorlin-Psaume syndrome, Papillon-Leage syndrome;
• OFD syndrome type II: Mohr syndrome, Mohr-Claussen syndrome;
• OFD syndrome type III: Sugarman syndrome;
• OFD syndrome type IV: Baraitser-Burn syndrome;
• OFD syndrome type V: Thurston syndrome;
• OFD syndrome type VI: Juberg-Hayward syndrome, Varadi syndrome, Varadi-Papp syndrome;
• OFD syndrome type VII: Whelan syndrome.

Genetic profile

The mode of inheritance of OFD syndrome depends on the type of the syndrome. Type I is inherited as an X-linked dominant trait and is only found in females because it is fatal in males. X-linked means that the syndrome is carried on the female sex chromosome, while dominant means that only one parent has to pass on the gene mutation in order for the child to be affected with the syndrome.

OFD syndrome type VII is inherited either as an X-linked or autosomal dominant pattern of inheritance. Autosomal means that the syndrome is not carried on a sex chromosome.

OFD syndrome types II, III, IV, V, and VI are passed on through an autosomal recessive pattern of inheritance. Recessive means that both parents must carry the gene mutation in order for their child to have the disorder.

OFD syndrome types VIII and IX are characterized by either an autosomal or X-linked recessive pattern of inheritance.

The gene location for OFD syndrome type I has been assigned to Xp22.3-22.2, or, on the 22nd band of the p arm of the X chromosome. The specific gene mutations responsible for the other types of OFD syndrome have not been identified.