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Oral Facial Digital Syndrome Type I
Thursday, 26 August 2004
Thursday, 26 August 2004
Orofaciodigital Syndrome, OFD Syndrome Type I)


Oral Facial Digital Syndrome Type I (OFDI) is a rare genetic disorder characterized by abnormal formation of the face, mouth, hands, and feet. In some individuals the kidneys, brain and other areas may also be affected. The features of OFDI are very variable, even when several members of the same family are affected.


OFDI is estimated to occur in about 1 out of every 50,000 to 250,000 births. The majority of the people affected with OFDI are females because most male fetuses with this disorder do not survive pregnancy.

Signs and Symptoms

Individuals with OFDI can have few or many of the following features.

  • Face and Skin: The eyes may be set farther apart than usual (hypertelorism) or one eye may move differently from the other (strabismus). The size of the jaw may be small. There might be less hair then usual (alopecia).
  • Oral Cavity: The roof of the mouth, tongue and teeth are commonly affected. There may be a cleft lip, cleft palate or a highly arched palate. The tongue may be lobed or have small nodules (hamartomas or lipomas). There may be missing teeth, extra teeth or other dental abnormalities.
  • Hands and Feet: The fingers may be shorter then usual (brachydactyly), webbed (syndactyly) or they may be curved (clinodactyly). The toes may have similar features and in a few cases, there may be extra fingers or toes.
  • Growth and Development: This disorder can cause learning disabilities, which are mild in most cases.
  • Kidney: A few individuals with OFDI can develop polycystic kidney disease, which means that there are many cysts in the kidney. This can occur during late childhood to adulthood.
  • Brain: In a few individuals with OFDI, there may be extra fluid and cysts in the brain or some of the brain structures might not have formed correctly. These malformations can lead to seizures, more severe learning problems and difficulties with balance and coordinating movements.

Possible Causes

OFDI is a genetic disorder caused by changes in a gene named OFDI. OFDI is considered an X-linked dominant disorder. It is called X-linked because the altered gene that causes the syndrome is on the X-chromosome. It is called dominant because inheriting one altered gene from a parent can cause the condition (the other copy of the gene is usually normal). This disorder may be familial, meaning a changed gene has been inherited from an affected parent or it may be sporadic, meaning the change has only occurred in the individual with this disorder. The normal function of the OFDI gene is not yet known, but it is probably important when the fetus is developing, especially in areas like the face, hands and kidneys.


Because these features vary in number and severity a great deal, some children are diagnosed early on in life while others are not diagnosed until much later in adolescence or adulthood. The diagnosis depends on finding the above described signs and symptoms on physical examination and other testing. Blood and urine tests can help check the function of the kidneys. Imaging studies (for example using ultrasound) can help evaluate the kidneys, liver and pancreas for cysts or other abnormalities. Other imaging studies, MRI or CT scans, can help evaluate the brain.


The treatment for OFDI varies depending on which signs and symptoms are present in an individual. Reconstructive surgery or plastic surgery can be used to treat facial malformations such as cleft palates and malformations of the fingers and toes. An orthodontist can help treat problems with the teeth. Hearing aids and speech therapy can be helpful for hearing loss and speech problems. A few individuals may have seizures or problems with balance and coordination and a neurologist can help manage these problems. Early educational classes can help children with learning disabilities. Other resources, such as physical and occupational therapy, can also be useful.


For children with OFDI, the prognosis can vary a great deal depending on which features are present and how severe these signs and symptoms are. Generally, individuals with problems only in the areas of the face and fingers have a good prognosis. Kidney and brain abnormalities can lead to more severe forms of OFDI.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Friends’ Health Connection
This is an organization that helps connect families with similar syndromes (but they have a membership fee).

Children's Craniofacial Association
CCA is a well-developed site, devoted to assisting families find current news, affiliated hospitals, financial assistance, craniofacial surgeons, legislative advocacy and newsletters.

FACES: The National Craniofacial Association
While this website does not discuss OFDI specifically, it is a great website with general information on craniofacial conditions, treating medical centers, financial guidance, and links.

AboutFace USA
The mission of this website is to enhance self esteem and to provide general information on facial disfigurement conditions. It has book reviews, insurance information, peer networking and school programs.

National Kidney Foundation
Under the “parent & family education” link you can find a lot of information on kidney diseases in general.

National Foundation for Ectodermal Dysplasias
This site specializes in conditions affecting the skin and associated structures (nails, teeth, hair)

Google Search for Oral Facial Digital Syndrome Type I

References and Sources

Gene Reviews Orpha Network (Rare diseases network) Marquette University School of Dentistry National Library of Medicine: Jablonski's Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database International Journal of Pediatric Dentistry