Otopalatodigital Syndrome Type I and II

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Otopalatodigital Syndrome Type I and II is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Cranioorodigital Syndrome
  • Faciopalatoosseous Syndrome
  • FPO
  • OPD Syndrome

Disorder Subdivisions

  • None

General Discussion

Otopalatodigital syndrome type I and II are rare X-linked genetic disorders in which complete expression of the disease occurs only in males. Females may be mildly affected with some of the symptoms. OPD type I is the milder form of the disease and is characterized by cleft palate, hearing loss and skeletal abnormalities in the skull and limbs. OPD type II includes these abnormalities as well as growth deficiency and abnormalities of the brain and is frequently not compatible with life.


Individuals with otopalatodigital syndrome type I typically have short stature, an incomplete closure of the roof of the mouth (cleft palate), a downward slant of the opening between the upper and lower eyelids, hearing loss due to a defect of the middle ear (conductive hearing loss), and abnormal shortness of the fingers and toes. Symptoms that are sometimes seen in OPD type I are: short, broad thumbs and great toes; wide spaces between the toes; one or more fingers bent to the side; two or more digits united (syndactyly); short fingernails; dislocation of the head of the radius (one of the bones of the forearm); a broad bridge of the nose; underdeveloped bones of the face; and/or slow speech development. Females with the disorder may have an overhanging brow, a depressed nasal bridge, a wide space between the eyes, and a flat midface. The symptoms expressed in females vary and are fewer. Females do not have the full expression of this disorder.

Individuals with otopalatodigital syndrome type II are typically more severely affected. Major characteristics in males with this disorder may be a small head, broad forehead, flat bridge of the nose, wide space between the eyes, small mouth, cleft palate, downward slant of the opening between the upper and lower eyelids, small mouth, small jaw, fingers that are bent and overlap, short fingers and toes, curved long bones of the forearms and legs and occasionally mental retardation. OPD type II typically results in stillbirth or early infant death. Females with OPD type II may have mild symptoms such as an arched palate in the mouth, broad face, low-set ears, split uvula (the fleshy lobe in the middle of the back border of the soft palate), fingers bent to the side, short stature, and a downward slant of the opening between the upper and lower eyelids. Females do not have the full expression of this disorder.


Otopalatodigital syndrome type I and II are inherited as X-linked traits with variable expression in carrier females. Different mutations in the gene for the filamin protein (FLNA) are responsible for the two syndromes. The FLNA gene has been mapped to chromosome Xq28.

Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated "p" and a long arm designated "q". Chromosomes are further sub-divided into many bands that are numbered. For example, "chromosomeXq28" refers to band 28 on the longt arm of the X chromosome. The numbered bands specify the location of the thousands of genes that are present on each chromosome.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

X-linked recessive genetic disorders are conditions caused by an abnormal gene on the X chromosome. Females have two X chromosomes but one of the X chromosomes is "turned off" and all of the genes on that chromosome are inactivated. Females who have a disease gene present on one of their X chromosomes are carriers for that disorder. Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is turned off. A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease. Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring. Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.

Affected Populations

Otopalatodigital syndrome type I and II affect males and females but males are more severely affected.

Standard Therapies


The diagnosis of OPD type I or II is based on physical features and X-ray findings. Skeletal abnormalities associated with theses conditions can sometimes be seen on a prenatal ultrasound exam. Clinical molecular genetic testing is available for mutations in the FLNA gene.


Treatment for OPD is symptomatic. Infants may have difficulty breathing and require long-term respiratory care. Orthopedic and surgical procedures may be used to correct skeletal deformities. Treatment of hearing loss may be limited due to the severity of deformities within the ear.

Genetic counseling is appropriate for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:




Savarirayan R. Oto-Palato-Digital Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:239-240.


Robertson SP, Walsh S, and Oldridge M, et al. Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1. Am J Hum Genet 2001;69:223-227.

Savarirayan R, Cornmier-Daire V, Unger S, et al. Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chrondro-osseous morphology. Am J Med Genet 2000;95:193-200.

Fitch N, Jequier S, and Papageorgiou A. A familial syndrome of cranial, facial, oral and limb abnormalities. Clin Genet 1977;10:226-231.


McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry No. 311300; Last Update: 3/19/03; Entry No. 304120; Last Update; 3/19/03.


Children's Craniofacial Association

13140 Coit Road

Suite 517

Dallas, TX 75240


Tel: (214)570-9099

Fax: (214)570-8811

Tel: (800)535-3643

Email: contactCCA@ccakids.com

Internet: http://www.ccakids.com

FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org

Let's Face It

University of Michigan, School of Dentistry / Dentistry Library

1011 N. University

Ann Arbor, MI 48109-1078


Tel: (360)676-7325

Email: faceit@umich.edu

Internet: http://www.dent.umich.edu/faceit


333 East 30th Street, Lobby Unit

New York, NY 10016

Tel: (212)263-6656

Fax: (212)263-7534

Email: info@myface.org

Internet: http://www.myface.org

Oto Palatal Digital Syndrome Family Resource Network

9559 Woodridge Circle

Eden Prairie, MN 55347

Tel: (952)947-9936

Email: info@opdsyndrome.org

Internet: http://opdsyndrome.org/index.html

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/

Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Internet: http://www.letthemhear.org

American Academy of Audiology

11730 Plaza America Drive, Suite 300

Reston, VA 20190

Tel: (703)790-8466

Fax: (703)790-8631

Tel: (800)222-2336

Email: infoaud@audiology.org

Internet: http://www.audiology.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.