Última actualización:
March 02, 2008
Años publicados: 1996, 2004
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.
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.
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.
Approximately 10 cases of orocraniodigital syndrome have been reported in the medical literature. The symptoms are usually obvious at birth.
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.
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: [email protected]
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
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
NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.
NORD y la Fundación MedicAlert se han asociado en un nuevo programa para brindar protección a pacientes con enfermedades raras en situaciones de emergencia.
Aprende más https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Asegurarse de que los pacientes y los cuidadores estén equipados con las herramientas que necesitan para vivir su mejor vida mientras manejan su condición rara es una parte vital de la misión de NORD.
Aprende más https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/Este programa de asistencia, primero en su tipo, está diseñado para los cuidadores de un niño o adulto diagnosticado con un trastorno raro.
Aprende más https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
View report