• Disease Overview
  • Synonyms
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Standard Therapies
  • Clinical Trials and Studies
  • References
  • Programs & Resources
  • Complete Report

Orocraniodigital Syndrome

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Last updated: March 02, 2008
Years published: 1996, 2004


Disease Overview

Orocraniodigital syndrome is an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and toes (digits). Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside, upper portion of the mouth (cleft palate), an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes. In some cases, malformations of certain skeletal bones may also be present. Mental retardation has occurred in the majority of cases. Orocraniodigital syndrome may be inherited as an autosomal recessive genetic trait.

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Synonyms

  • Cleft Lip/Palate with Abnormal Thumbs and Microcephaly
  • Cranio-Oro-Digital Syndrome
  • Digital-Oro-Cranio Syndrome
  • Juberg Hayward Syndrome
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Signs & Symptoms

In many cases, orocraniodigital syndrome is characterized by cleft lip and/or palate, malformations of the mouth and/or lips that are noticeable at birth (congenital). A cleft is an incomplete closure or groove on the inside, upper portion of the mouth (palate) or lips, or both. Clefts may be barely noticeable (occult), or they may cause severe deformities leading to difficulties in speaking.

There are several varieties of cleft lip and palate malformations. The most severe types of clefts involve the lips, gums, and certain tissues on the roof of the mouth (hard and soft palates). Less severe clefts may involve only one of these structures. Clefts may occur on one (unilateral) or both sides (bilateral) of the lips and/or palate.

Other primary symptoms of orocraniodigital syndrome may include an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), eyebrows that are slanted upward, and/or abnormalities affecting the thumbs and/or toes. These abnormalities may include improper development (hypoplasia) or absence (agenesis) of the thumbs; webbing (syndactyly) of the toes; stiff thumbs; and/or thumbs that are located lower or higher than normal.

In some cases, affected infants may also have low birthweight and/or kidneys that are joined at the base (horseshoe kidneys). The bone on the thumb side of the upper arm (radius) may be abnormally short or displaced (dislocated). In addition, affected individuals may also have abnormally formed elbows that may limit mobility (arm extension) and/or minor malformations of the spine, ribs, and/or certain bones in the hands (carpal bones). In the majority of cases, mental retardation may also occur.

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Causes

Orocraniodigital syndrome is thought to be inherited as an autosomal recessive genetic trait. However, autosomal dominant inheritance has yet to be ruled out.

Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

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Affected populations

Approximately 10 cases of orocraniodigital syndrome have been reported in the medical literature. The symptoms are usually obvious at birth.

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Standard Therapies

Orocraniodigital Syndrome is usually diagnosed shortly after birth (neonatal period) based upon a thorough clinical evaluation. Treatment of this disorder depends upon the specifics and severity of each individual case. Surgery may correct some of the craniofacial deformities associated with this disorder. For example, infants with cleft lip may require surgery; in some cases, additional surgery may be necessary when the child grows older. Cleft palate may also be surgically repaired. In some cases, hand and/or feet malformations associated with Orocraniodigital Syndrome may also be surgically corrected.

Genetic counseling will be of benefit for affected individuals and their families. A team approach for infants and children with this disorder may be of benefit and may include special social, educational, and medical services. Other treatment is symptomatic and supportive.

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Clinical Trials and Studies

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:

www.centerwatch.com

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References

TEXTBOOKS

Gorlin RJ, Cohen MM Jr, Levin LS, eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990

JOURNAL ARTICLES

Hedera P, Innis JW. Juberg-Haywood syndrome: report of a new patient with severe phenotype and novel clinical features. Am J Med Genet. 2003;122A:257-60.

Reardon W, Hall CM, Gorman W. An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Haywood syndromes. Clin Dysmorphol. 2001;10:123-28.

Silengo M, Tornetta L. Juberg-Haywood syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. Clin Dysmorphol. 2000;9:127-29.

Kantaputra PN, Mongkolchaisup S. Juberg-Haywood syndrome: a new case report and clinical delineation of the syndrome. Clin Dysmorphol. 1999;8:123-27.

FROM THE INTERNET

Juberg-Haywood syndrome. Orphanet. April 2003. 1p.

www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=2319

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Cleft Lip/Palate with Abnormal Thumbs and Microcephaly. Entry Number; 216100: Last Edit Date; 12/5/2003

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Programs & Resources

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Additional Assistance Programs

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Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

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This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.

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Patient Organizations


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