Oral-Facial-Digital Syndrome (OFDS) Type II

Oral-facial-digital syndrome type 2 or OFSD Type II is an assorted group of disorders that are characterized by facial anomalies, oral malformations, abnormalities of toes and/or fingers and digital anomalies.⁽³⁾ Mohr reported the Oral-facial-digital syndrome type 2 or OFSD Type II in the year 1941.⁽³⁾ Various different and expressive types of OFDS have been reported in which there are 11 different clinical entities that are present up till now. It was also reported that till now only three cases of Oral-facial-digital syndrome type 2 or OFSD Type II have been detected in the Japanese people. OFDS is also known globally by other names like OFD2, Oral Facial Digital Syndrome type 2 and OFD syndrome 2.

A genetic state that hinders the development of the mouth, feet, hands, and face is known as Oral-facial-digital syndrome type 2 (OFDS 2). It falls under the group Oral-Facial-Digital Syndromes (OFDS). Oral-facial-digital syndrome type 2 is quite similar to Oral-facial-digital syndrome type 1. Some of the signs and symptoms are extra or fused toes and fingers, cleft palate and/or lips, congenital heart defects and characterized facial features. Many researchers, as well as those related to the medical field, suspect that OFDS type 2 is genetic. The exact gene that causes this medical condition is still unknown.

Some of them also believe that the syndrome is inherited through an autosomal recessive pattern.⁽³⁾ There is no particular cure or treatment for Oral-facial-digital syndrome type 2 or OFSD Type II though; there are certain measures to manage the various symptoms that are seen in an individual.^[2,4] There are 13 different potential forms of Oral-facial-digital syndrome have been identified by the researchers.⁽⁵⁾ They are distinguished by their signs and symptoms as well as the patterns.⁽⁵⁾

The signs and symptoms of different types of Oral-facial-digital syndrome may vary, however, majority of the forms face the problem with the development of the oral cavity and facial features, brain abnormality and to some extent intellectual disability. The signs and symptoms of Oral-facial-digital syndrome type 2 or OFSD Type II may vary from an individual to an individual.

Some of the common signs and symptoms of Oral-facial-digital syndrome type 2 or OFSD Type II are listed below:

• Facial findings that include nodules of the tongue.⁽⁷⁾
• Thickened frenulum (cord of tissue), which is present under the tongue or maybe in between the gum and lips.⁽⁷⁾
• Widely spaced eyes (dystopia canthorum), which are obtained as the outcome of the unusual wide nasal bridge and lips and/or palate may split.^[1,7]
• The finger and the toes may be narrow, short toes and fingers (clinobrachydactyly).⁽⁷⁾
• More than five fingers on hands or toes (polydactyly).
• Fused toes and fingers (syndactyly) and central metacarpal which is Y-shaped (the bone which connects our fingers to the hands).

Except for these, there are other symptoms that may indicate a person is suffering from Oral-facial-digital syndrome type 2 or OFSD Type II. They are the central nervous system impairments conductive hearing loss, heart-related problems like an atrioventricular canal (endocardial cushion) defects, respiratory infections and intellectual disabilities.⁽⁷⁾ It is seen that 30% to 79% of people suffer from the following symptoms:

• Bifid tongue (cleft tongue).⁽⁷⁾
• Bifid nasal tip (cleft nasal tip).⁽⁷⁾
• Agenesis of the central incisor (absent central incisor).
• Accessory oral frenulum.
• Abnormal oral frenulum morphology.

Oral-Facial-Digital Syndromes type 2 is speculated genetic disorder.⁽⁷⁾ The gene that causes this syndrome is still not known. However, it seems to be an inheritance in an autosomal recessive inheritance pattern.⁽⁶⁾ Oral-facial-digital syndrome type 2 or OFSD Type II is transmitted to the affected child through his parents.⁽⁷⁾ The specific gene that causes Oral-Facial-Digital Syndrome type II disorder is still to be found. It is a very rare disorder as the parent’s affected gene should be dominant to transfer the same disorder to the child.

Oral-Facial-Digital Syndrome (OFSD) type 2 is inherited from an autosomal recessive manner.⁽⁷⁾ Therefore it means that if a patient has this syndrome, it means that he has to have the mutation of both copies in each cell that are a responsible.⁽⁷⁾ The patient of the Oral-Facial-Digital Syndrome (OFSD) type 2 must carry one mutated copy of a gene from both the parents who are known as the carriers.⁽⁷⁾ The carriers who carry autosomal recessive condition are usually not affected in any way nor do they show any signs or symptoms. They simply act as carriers. It is reported that when 2 people, the carrier, having an autosomal recessive condition reproduce, their child may have a 25% chance to be affected by the syndrome (1 in 4), 50% chance to remain unaffected by the carrier like each of their parent (1 in 2) and 25% chance of neither being affected by the carrier nor be a carrier.

Oral-Facial-Digital Syndrome is estimated to affect 1 in 50,000 to 250,000 newborn children.⁽⁸⁾ Majority of the cases of this disorder are reported to be type 1. Type 2 and other types are quite rare forms of Oral-Facial-Digital Syndrome and only one family out of so many might be affected by it.

It is quite challenging to diagnose any type of rare or genetic related disorder. Doctors usually check the person’s medical history, his signs and symptoms, physical examination and of course the test results of the laboratory so as to make a diagnosis.

There isn’t any particular treatment for treating the Oral-Facial-Digital Syndrome type 2; however, there are many measures taken by the medical professionals so as to manage the various signs and symptoms shown by the patient of OFDS type 2.^[1] For example, many professionals perform the reconstructive surgery so as to correct toe and/or finger abnormalities, oral and facial.⁽⁸⁾ Since many people might find a problem in meeting with a specialist of this Oral-Facial-Digital syndrome, one may take the help of advocacy organizations, articles published or clinical trials to get treated as soon as possible. Many of the organization also provides facilities of serving a medical advisor or may also provide one with a list of clinics that might help you with this syndrome. Since the Oral-Facial-Digital disorder is rare and a type 1 is quite known than type 2, more awareness should be spread about the type 2 Oral-Facial-Digital Syndrome.

Even though the patients of the Oral-Facial-Digital Syndrome type 2 belong to the same family; yet the signs and symptoms of OFDS type 2 may differ from an individual to an individual.⁽⁹⁾ Therefore, the problems that are faced by one may be different from the other individual suffering from Oral-Facial-Digital Syndrome type 2. Due to rare cases of this syndrome, the symptoms vary greatly even within the same family. Hence, this makes it difficult to have a better understanding of the complications from Oral-facial-digital syndrome type 2 or OFSD Type II that could be faced. The challenges and problems faced by two different people in the family can be in opposite directions and this variability causes problems for the doctors to track down the Oral-Facial-Digital disorder. To have a better understanding of Oral-Facial-Digital Syndrome and various complications that come with this syndrome, it is advised to completely reveal all the details to the professional. Since the signs and symptoms differ from person to person, the Oral-Facial-Digital Syndrome may differently impact individuals.

The estimated life expectancy of the person suffering from Oral-Facial-Digital Syndrome type 2 is comparatively normal, but the quality of life they lead is not very easy. Patients suffering from Oral-facial-digital syndrome type 2 or OFSD Type II face numerous problems throughout life and this makes life difficult for them.

Oral-Facial-Digital Syndrome (OFDS) Type I: It is also known as Papillon- Leage- Psaume- Syndrome. It includes coarse and thin hair growth. PKD (Polycystic Kidney Disease) is a part of OFDS Type I disorder. However, this becomes active only after the affected child reaches the teenage. Oral-Facial-Digital Syndrome (OFDS) Type I is the most known and common when compared to the other types of this syndrome.

Oral-Facial-Digital Syndrome (OFDS) Type III: OFDS Type III is globally known by the name of Sugarman’s Disease or Sugarman syndrome. OFDS Type III involves extra fingers and toes with more than the usual number of teeth in a human body. OFDS Type III may also lead to see-saw winking.⁽⁸⁾

Oral-Facial-Digital Syndrome (OFDS) Type IV: It is known by the name of Baraitser- Burn Syndrome. The patient suffering from Baraitser- Burn Syndrome possesses short limbs.^[2]

Oral-Facial-Digital Syndrome (OFDS) Type V: This type of OFDS syndrome goes by the name of Thurston Syndrome and is differentiated with middle line lip cleft.

Oral-Facial-Digital Syndrome (OFDS) Type VI: Also known as Varadi-Papp Syndrome, this type of OFDS syndrome is characterized by polydactyly where there are extra toes and fingers.

Oral-Facial-Digital Syndrome (OFDS) Type VII: Kidney Abnormalities are faced in Oral-Facial-Digital Syndrome (OFDS) Type VII syndrome, which is commonly known as Whelan Syndrome.

Oral-Facial-Digital Syndrome (OFDS) Type VIII: It is known as Edwards Syndrome and not much information is available on OFDS Type VIII.

Oral-Facial-Digital Syndrome (OFDS) Type IX: This type of Oral-Facial-Digital Syndrome usually contains retinal abnormalities and includes cleft lip, inflexible epiglottis and retina’s abnormal development.⁽⁸⁾

Oral-Facial-Digital Syndrome (OFDS) Type X: There is a problem in the growth of some long bones of the arm and legs in patients suffering from Oral-Facial-Digital Syndrome (OFDS) Type X.

Oral-Facial-Digital Syndrome (OFDS) Type XI: This type of Oral-Facial-Digital Syndrome is also known as Gabrielli Syndrome.

Oral-Facial-Digital Syndrome (OFDS) Type XII: This type of Oral-Facial-Digital Syndrome is also called as Moran- Barroso Syndrome. Oral-Facial-Digital Syndrome (OFDS) Type XII is an extremely rare condition. It is reported that up till now only 1 person is affected by it.

Oral-Facial-Digital Syndrome (OFDS) Type XIII: Degner Syndrome is another name of Oral-Facial-Digital Syndrome (OFDS) Type XIII. Along with other OFDS symptoms, Oral-Facial-Digital Syndrome (OFDS) Type XIII also includes psychiatric symptoms in the patient.⁽⁸⁾

Oral-facial-digital syndrome type 2 or OFSD Type II is a genetic disorder, which is quite rare; hence, many may not be aware of its cause, symptoms, effect and treatment. Family of the patient may find it difficult to get in touch with the medical professionals who are specialists in this field. Many organizations may provide a person with information related to the syndrome. Though there are no specific treatments to Oral-facial-digital syndrome type 2 or OFSD Type II, yet patients with OFDS syndrome should not lose hope; and fight with this condition, because we are at least blessed to have ways to manage symptoms related to this syndrome. Research is still going on to find the exact cause and also to get the solution of Oral-Facial-Digital Syndrome (OFDS) Type 2. Till then, more and more awareness about Oral-Facial-Digital Syndrome (OFDS) Type 2 should be spread.

References: