Última actualización:
September 23, 2007
Años publicados: 1987, 1989, 1994, 1997, 1998, 1999, 2006, 2007
Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine.
Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form.
The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). Although, in most cases (about 60%), such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left.
In most cases OAVS appears to occur randomly, with no apparent cause (sporadic). However, in some cases, family histories suggest autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).
Oculo-auriculo-vertebral spectrum represents three rare disorders that are apparent at birth (congenital), and are characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). In about 60 percent of the cases, such malformations involve one side of the body (unilateral). Yet, in approximately 10 to 33 percent of affected individuals, both sides of the body may be involved (bilateral), with one side usually more affected than the other (asymmetry). In many such cases, the right side is more severely affected than the left.
For unknown reasons, hemifacial microsomia (HFM) tends to affect only the right side of the face. IN HFM, both the jaw and the eye may be substantially smaller on the affected side. The cheek on the affected side may appear to be flatter due to under development of the cheekbones on that side. The external ear may be smaller (microtia) or even absent (anotia). There may also be hearing loss. Intelligence is not affected.
People with the Goldenhar variant of OAVS present with most if not all of the signs of HFM, but in 10 to 33 percent of the cases, the symptoms affect both sides of the face (bilateral). A cleft lip and/or cleft palate may be present but the presence of a cleft palate alone is more common. The muscles of the tongue and cheeks may cause severe difficulties with speech. Some tissue(s) of the eye may fail to close, presenting as a notch (coloboma) of varying size. In about one-third of cases, the patient presents with a cyst on the eye (dermoids cyst). Further, patients with Goldenhar syndrome can present with heart defects as well as kidney problems. People with Goldenhar syndrome may have underdeveloped kidneys on one side or even the lack of a kidney on the affected side. Two or more vertebrae may be fused or knitted together. Intelligence is not affected.
In most cases, oculo-auriculo-vertebral spectrum occurs randomly, with no apparent cause (sporadic). However, in some cases, positive family histories have been identified that have suggested autosomal dominant, or, less frequently, autosomal recessive inheritance. In addition, many researchers suggest that OAVS may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).
For as yet unexplained reasons, it appears that women who have been exposed to certain medications (e.g., certain acne drugs with retinoic acid) or conditions (e.g., diabetes) during pregnancy have had children with abnormalities characteristic of OAVS. In addition, distinctive features associated with OAVS have also occurred in association with several chromosomal disorders. (For more information, see the Related Disorders section below.) The implications of such findings are not fully understood.
OAVS affects males more frequently than females by an approximate 3:2 ratio. There is some disagreement in the medical literature concerning the disorder’s rate of occurrence. Reported estimates range from one in 3000 to 5000 live births up to one in 25,000-40,000 live births. Most of the physical characteristics associated with OAVS are apparent at birth (congenital), with the possible exception of facial asymmetry, which may not become apparent until approximately four years of age in many cases.
Rarely, oculo-auriculo-vertebral spectrum may be detected before birth (prenatally) by specialized tests such as ultrasound imaging. In fetal ultrasonography, reflected sound waves may be used to create an image of the developing fetus, revealing characteristic findings. In the case of OAVS, such findings depend on the presence or absence of bone in the lower jaw (mandible), severe abnormalities of the outer ears, cleft palate, and/or cleft lip.
OAVS may also be diagnosed and/or confirmed after birth (postnatally) by a thorough clinical evaluation, identification of characteristic physical findings, and advanced imaging techniques.
A variety of specialized tests may be conducted to confirm specific abnormalities potentially associated with oculo-auriculo-vertebral spectrum disorders. For example, computer-assisted tomography (CT) scanning may be an essential aid in the detection of middle ear abnormalities that may contribute to hearing loss. Advanced imaging techniques may also be helpful in detecting and/or confirming other potential abnormalities of the skull, spinal column, lungs, and/or kidneys. In some cases, additional specialized tests (e.g., echocardiograms, electrocardio-grams, cardiac catheterization, specialized x-ray studies, etc.) may be conducted to detect and/or confirm the presence of congenital heart defects that may be associated with the disorder.
Examination with an instrument (opthalmoscope) that visualizes the interior of the eye may also be conducted to detect, confirm, and/or characterize certain eye (ocular) abnormalities, such as microphthalmia or anophthalmia, epibulbar dermoids and lipodermoids, strabismus, etc.
Swallowing and feeding difficulties in newborns with OAVS may suggest abnormalities such as esophageal atresia and tracheoesophageal fistula. These abnormalities may be detected by means of a flexible, hollow tube used to inject fluid into or drain fluid from the body (catheter). If it cannot pass from the mouth to the stomach, congenital malformations may be present.
Treatment
The treatment of OAVS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists who may need to work together to ensure a comprehensive, systematic approach to treatment. Such specialists may include pediatricians; physicians who diagnose and treat disorders of the ears, nose, and throat (otolaryngologists); eye specialists (ophthalmologists); neurologists; heart (cardiologists) and/or lung (cardiothoracic) surgeons; physicians who specialize in the diagnosis and treatment of disorders of the kidneys (nephrologists), urinary tract (urologists), and digestive tract (gastroenterologists); plastic surgeons; specialists who assess and treat hearing problems (audiologists); speech pathologists; and/or other health care professionals.
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 web site.
For information about clinical trials being conducted at the NIH Clinical Center 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
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial abnormalities, ear abnormalities, hearing loss, visual impairment, skeletal malformations, cardiac disease, kidney abnormalities, esophageal atresia, tracheoesophageal fistula, mental retardation, etc.].)
TEXTBOOKS
Schneider A. Goldenhar Syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:716-17.
Gorlin RJ, Cohen MMJr, Hennekam RCM, eds. Syndromes of the Head and Neck. 4th ed. Oxford University Press, New York, NY; 2001:790-98.
Jones KL, ed. Smith’s Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:642-45.
JOURNAL ARTICLES
Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B. Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). Am J Med Genet A. 2006;140:1573-79.
Fischer S, Ludecke HJ, Wieczorek D, Bohringer S, Gillesen-Kaesbach G, Horsthemke B. Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet. 2006;15:581-87.
Tasse C, Bohringer S, Fischer S, Ludecke HJ, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005;48:397-411.
Beck AE, Hudgins L, Hoyme HE. Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the Oculo-auriculo-vertebral spectrum? Am J Med Genet A. 2005;134:359-62.
Hirschfelder U, Piechot E, Schulte M, Leher A. Abnormalities of the TMJ and the musculature in the oculo-auriculo-vertebral spectrum (OAV). A CT study. J Orofac Orthop. 2004;65:204-16.
Miller TD, Metry D. Multiple accessory tragic as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome. J Am Acad Dermatol. 2004;50(2 Suppl):S11-13.
FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Hemifacial Microsomia; HFM; Entry Number; 164210: Last Edit Date; 6/21/2005.
Oculo-auriculo-vertebral spectrum, Hemifacial microsomia, Goldenhar syndrome. UC Davis Children’s Hospital. 2006. 4pp.
www.ucdmc.ucdavis.edu/children/services/cleft/health/anomalies/oculo.html
Connor JM. Goldenhar Syndrome. Contact a Family. Medical Text Last Approved December 2004. 2pp.
www.cafamily.org.uk/cgi-bin/printable.pl
Tewfik TL, Alnoury KI. Manifestations of Craniofacial Syndromes. emedicine. Last Updated: August 7, 2006. 10pp.
www.emedicine.com/ent/topic319.htm
Goldenhar syndrome. FACES The National Craniofacial Association. Last Modified on: Thursday, March 18, 2004.
www.faces-cranio/Disord/Golden.htm
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