Years published: 1992, 1999, 2006, 2007, 2009, 2012, 2015, 2018, 2023
NORD gratefully acknowledges Maurice Godfrey, PhD, University of Nebraska Medical Center, for assistance in the preparation of this report
Congenital contractural arachnodactyly (CCA) is an extremely rare genetic disorder characterized by a Marfan-like body habitus (tall, slender), the permanent fixation of certain joints (e.g., fingers, elbows, knees, and hips) in a flexed position (contractures); abnormally long, slender fingers and toes (arachnodactyly); permanently flexed fingers (camptodactyly); and/or differently shaped ears resulting in a “crumpled” appearance. In addition, affected individuals may exhibit front-to-back and side-to-side curvature of the spine (kyphoscoliosis); feet that are differently positioned (talipes equinovarus or clubfoot); outward displacement of the fingers (ulnar deviation of the fingers); a short neck. Rarely, affected individuals may have a slight deformity of the valve on the left side of the heart (mitral valve prolapse). CCA is inherited in an autosomal dominant pattern.
CCA encompasses a broad range of symptoms. The specific symptoms that develop in each individual case and the severity of symptoms often vary. Most individuals have permanent fixation of certain joints in a flexed position (contractures) that is present a birth (congenital). The joints of the fingers, elbows, knees and hips are most often affected. In most cases, contractures improve with age.
Some affected infants have differently shaped ears giving them a “crumpled” appearance. Additional common symptoms include long, slender fingers and toes (arachnodactyly), permanently flexed fingers (camptodactyly), underdevelopment of certain muscles (muscular hypoplasia), and front-to-back and side-to-side curvature of the spine (kyphoscoliosis). Kyphoscoliosis is usually progressive and severe, often necessitating surgery.
Some children have a specific heart defect known as mitral valve prolapse (MVP). The mitral valve is located between the left upper and left lower chambers (left atrium and left ventricle) of the heart. MVP occurs when one or both flaps (cusps) of the mitral valve bulge or collapse backward (prolapse) into the left atrium during ventricular contraction (systole). In some cases, this may allow leakage or the backward flow of blood from the left ventricle back into the left atrium (mitral regurgitation). In some patients, no associated symptoms are apparent (asymptomatic). However, in other people, MVP can result in chest pain, abnormal heart rhythms (arrhythmias), fatigue, dizziness and/or other symptoms and signs.
Less common symptoms may occur in some children. Additional differences of the head and face (craniofacial) region include a small jaw (micrognathia), a prominent forehead (frontal bossing), a highly arched palate, a long narrow head (dolichocephaly or scaphocephaly), or a wide head (brachycephaly). Nearsightedness (myopia) affecting the eyes may also occur.
Some individuals may have a short neck. Some affected individuals have a clubbed foot, inwardly clasped (adducted thumbs) and bowed long bones of the arms and leg.
Rarely, individuals with CCA may develop a severe form of the disorder associated with life-threatening complications. This severe form of CCA is associated with various heart and intestinal abnormalities including atrial and ventricular septal defects; improper development of the aorta resulting in blockage of blood flow (interrupted aortic arch); a single umbilical artery; a condition in which the tube (esophagus) that normally carries food from the mouth to the stomach narrows to a thin cord or ends in a pouch rather than providing passage to the stomach (esophageal atresia); abnormal closure or blockage of the first part of the small intestine (duodenal atresia); and obstruction of the intestines due to malformation of part of the intestines (intestinal malrotation).
Rarer still, CCA may be associated with aortic root dilatation, a condition characterized by widening (dilatation) of the opening where the aorta and the heart chamber connect (aortic root).
CCA occurs due to changes (variants or mutations) to the fibrillin-2 (FBN2) gene.
CCA is inherited in an autosomal dominant pattern. Dominant genetic disorders occur when only a single copy of gene variant is necessary to cause a particular disease. The gene variant can be inherited from either parent or can be the result of a changed gene in the affected individual. The risk of passing the gene variant from an affected parent to children is 50% for each pregnancy. The risk is the same for males and females.
Interestingly, studies of a largely Ashkenazi Jewish population have shown that deletions of exons 1-8 in the FBN2 gene are not associated with any pathology and is considered a benign variant.
CCA affects males and females in equal numbers. The prevalence of CCA is unknown. For years, researchers speculated that the Marfan syndrome (another rare connective tissue disorder) and CCA may be the same disorder because of the overlap of clinical symptoms. However, investigators have determined these disorders are caused by variants in different genes confirming that CCA is a distinct disorder.
Because of the similarities with the more recognized Marfan syndrome, it is difficult to determine the true incidence of CCA in the general population. However, molecular genetic testing can confirm a diagnosis of CCA and should allow researchers to obtain a more accurate idea of its incidence in the future.
The recent identification of another condition with overlapping symptoms, Loeys-Dietz syndrome has led to additional misdiagnosis (see below).
A diagnosis of CCA is suspected based upon a thorough clinical evaluation and identification of characteristic findings. A diagnosis may be confirmed by molecular genetic testing which detects an FBN-2 gene variant in approximately 75 percent of patients.
Recently, Meerschaut et al. have proposed a scoring system for CCA to help support a diagnosis. They suggest this as a quantitative tool for research purposes and as clinical guidance in diagnosis.
The treatment of CCA is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, surgeons, cardiologists, orthopedists, and other health care professionals may need to plan an affect child’s treatment systematically and comprehensively.
Physical therapy, often started during childhood, may be used to treat joint contractures. Physical therapy can improve joint mobility and lessen the effects of muscular hypoplasia. In many people, joint contractures improve without treatment (spontaneously) as individuals grow older. However, for some people, surgery may be necessary to treat contractures. Kyphoscoliosis is often progressive and severe and may necessitate treatment with braces or surgery.
Many physicians recommend that individuals with CCA receive an echocardiogram to distinguish the disorder from Marfan syndrome and detect any heart defects that may potentially be associated with the disorder. During an echocardiogram, high-frequency sound waves are used to create a structural image of the heart and nearby tissue.
A thorough eye (ophthalmologic) examination is recommended to detect any potential eye abnormalities that are sometimes associated with CCA.
Genetic counseling is recommended for affected individuals and their families. 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 web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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