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Congenital Contractural Arachnodactyly

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Congenital contractural arachnodactyly is a rare autosomal dominant connective tissue disorder characterized by congenital flexion contractures, arachnodactyly, camptodactyly and abnormally shaped ears, with or without involvement of the heart and the eyes.


Presentation

Congenital contractual arachnodactyly (CCA) may also be known as Beals syndrome, Beals-Hecht syndrome and distal arthrogryposis type 9. Affected patients are usually tall with long limbs and possess a Marfan-like habitus [1] [2].

Flexion contractures present at birth are one of the main features of this condition. The most commonly affected joints include the fingers, elbows, hips, and knees. The degree of the contractures vary and they tend to spontaneously decrease in severity. However, residual camptodactyly is almost always observed. Abnormally long, slender fingers and toes (arachnodactyly) are another typical findings in such patients. Although the contractures make the evaluation of the disproportion between body and limb length difficult, the arm span surpasses the body height in most cases [3].

Other musculoskeletal abnormalities observed in CCA include scoliosis, kyphoscoliosis, pectus carinatum, a high arched palate, hypoplastic muscles, generalized osteoporosis, joint dislocations and ulnar deviation of the fingers. Scoliosis or kyphoscoliosis may be severe and may require surgical intervention [4] [5].

Ear changes include a prominent antihelix and root of helix and an irregular helix with a crumpled appearance.

Cardiovascular system abnormalities such as mitral valve prolapse and aortic root dilatation may also be observed in some patients.

20% of patients with CCA present with ophthalmological problems, such as heterotopia, ectopia lentis, partial coloboma of the lens, cataract, glaucoma and an abnormal ciliary body [6].

Marfanoid Habitus
  • Abstract Congenital Contractural Arachnodactyly is an inherited disorder of connective tissue characterised by congenital contractures, arachnodactyly, marfanoid habitus, crumpled auricles and in some kindreds, progressive kyphoscoliosis.[ncbi.nlm.nih.gov]
  • Congenital contractural arachnodactyly (CCA) is a rare connective tissue disorder characterized by marfanoid habitus with camptodactyly. However, cardiac features have rarely been documented in adults.[ncbi.nlm.nih.gov]
  • The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations.[ncbi.nlm.nih.gov]
  • The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips, and mild muscle hypoplasia especially of the calf muscles.[ncbi.nlm.nih.gov]
  • CCA patients have a marfanoid habitus; however, aortic dilatation and/or dissection as observed in Marfan syndrome have been rarely documented.[ncbi.nlm.nih.gov]
Slender Habitus
  • Congenital contractural arachnodactyly (CCA) is characterized by a Marfan-like appearance (tall, slender habitus in which arm span exceeds height) and long, slender fingers and toes (arachnodactyly).[ncbi.nlm.nih.gov]
Ear Deformity
  • Congenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity.[ncbi.nlm.nih.gov]
  • Its features include arthrogrypotic finger contractures, a long, thin body habitus and ear deformities. It is autosomal dominant. It is one differential of Marfan's Syndrome but unlike the latter, there are no ocular or cardiovascular abnormalities.[gpnotebook.co.uk]
Ear Deformity
  • Congenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity.[ncbi.nlm.nih.gov]
  • Its features include arthrogrypotic finger contractures, a long, thin body habitus and ear deformities. It is autosomal dominant. It is one differential of Marfan's Syndrome but unlike the latter, there are no ocular or cardiovascular abnormalities.[gpnotebook.co.uk]
Flexion Contracture
  • An ultrasound may help identify flexion contractures and hypokinesia in suspected cases. An X-ray may show elongation of the phalanges.[symptoma.com]
  • Congenital contractural arachnodactyly (CCA) is an uncommon condition characterized by arachnodactyly, dolichostenomelia, kyphoscoliosis, "crumpled" auricles, and flexion contractures at knees, elbows, fingers, and sometimes other joints.[ncbi.nlm.nih.gov]
  • Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia.[ncbi.nlm.nih.gov]
  • Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder, comprising marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia.[ncbi.nlm.nih.gov]
  • Beals syndrome is an autosomal-dominant connective tissue disorder, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia.[ncbi.nlm.nih.gov]
Flexion Contracture
  • An ultrasound may help identify flexion contractures and hypokinesia in suspected cases. An X-ray may show elongation of the phalanges.[symptoma.com]
  • Congenital contractural arachnodactyly (CCA) is an uncommon condition characterized by arachnodactyly, dolichostenomelia, kyphoscoliosis, "crumpled" auricles, and flexion contractures at knees, elbows, fingers, and sometimes other joints.[ncbi.nlm.nih.gov]
  • Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia.[ncbi.nlm.nih.gov]
  • Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder, comprising marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia.[ncbi.nlm.nih.gov]
  • Beals syndrome is an autosomal-dominant connective tissue disorder, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia.[ncbi.nlm.nih.gov]
Long, Thin Fingers
  • thin fingers and contractures involving the knees, elbows, fingers and sometimes other joints.[checkorphan.org]

Workup

To confirm the diagnosis, molecular genetic tests, allowing the detection of the defective gene, should be performed. Antenatal diagnosis is available and may be performed after genetic consultations. The possibility of germline and somatic mosaicism should always be considered during genetic counseling [7].

An ultrasound may help identify flexion contractures and hypokinesia in suspected cases. An X-ray may show elongation of the phalanges.

The main differential diagnosis is Marfan syndrome due to the numerous overlapping clinical features, such as Marfan-like habitus, camptodactyly, arachnodactyly, kyphoscoliosis and ocular problems. CCA was hence, considered to be a variant of Marfan syndrome. Moreover, changes in Marfan syndrome are due to abnormalities in a similar gene - FBN-1, situated on the 15q15-21.3 chromosome. However, these are two separate conditions with certain distinct differences [8] [9].

Congenital contractures, as well as scoliosis, are mainly observed in patients with CCA, with less incidence of ocular and cardiovascular complications. Ectopia lentis, in particular, is extremely rare. A crumpled ear appearance is a common characteristic in such patients, although it may also be present in patients with Marfan syndrome. An important distinguishing feature is the severity of the cardiac lesions, with Marfan syndrome patients presenting with aortic root dilatation that is usually progressive, a feature uncommonly seen in CCA [10].

Treatment

  • Dentists must be aware of the clinical features of a patient's syndrome to determine whether there are implications for dental treatment such as a need for antibiotic prophylaxis.[ncbi.nlm.nih.gov]
  • To learn more about Beals syndrome and its diagnosis and treatment, download: Beals syndrome[marfan.org]
  • Links: Marfan's syndrome arachnodactyly arthrogryposis General Practice Notebook General Practice Notebook The information provided herein should not be used for diagnosis or treatment of any medical condition.[gpnotebook.co.uk]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • Although most cases with AMC/FAS carry a poor prognosis, Beals syndrome is consistent with normal cognitive development and a better prognosis.[ncbi.nlm.nih.gov]
  • Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.[ncbi.nlm.nih.gov]
  • The long-term prognosis for affected individuals is usually relatively good. We report on two newborn infants with severe CCA, both of whom died in the first year of life.[ncbi.nlm.nih.gov]
  • The prognosis for a normal lifespan is good and improvement in joint contractures is usual.[ncbi.nlm.nih.gov]
  • It is important to exclude Marfan's syndrome as a differential diagnosis for CCA because the former has more associated complications and a less favorable prognosis.[ncbi.nlm.nih.gov]

Etiology

  • These observations are consistent with the possibility that CCA is an etiologically and clinically heterogeneous disorder.[ncbi.nlm.nih.gov]
  • Elsevier Health Sciences , 18.08.2013 - 979 Seiten Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.de]
  • Extensive updates offer you the latest knowledge on etiology, imaging, differential diagnosis, and non-operative and surgical techniques for a wide range of pediatric orthopaedic conditions. "... delivers the most comprehensive text on this subject."[books.google.de]
  • Etiology Beals syndrome is caused by a mutation in the FBN2 gene on chromosome 5q23. The number of patients reported has increased following the identification of the FBN2 mutation.[orpha.net]

Epidemiology

  • Summary Epidemiology The incidence of CCA is unknown and its prevalence is difficult to estimate due to the overlap in phenotype with MFS. Etiology Beals syndrome is caused by a mutation in the FBN2 gene on chromosome 5q23.[orpha.net]
  • Epidemiology Despite the recognition of MFS as a syndrome for more than a century, CCA has only recently been accepted as a distinct entity.[doi.org]
Sex distribution
Age distribution

Pathophysiology

  • While it is unlikely that FBN2 defects account for susceptibility to NTM infection in the majority of cases, the overlap between these two diseases suggests some shared pathophysiology.[ncbi.nlm.nih.gov]
  • Research has shown that overuse degeneration and aging also share some pathophysiological mechanisms including mitochondrial dysfunction, increased apoptosis, abnormal modulation of autophagy, decline in satellite cells, increased generation of reactive[books.google.es]
  • Therefore, the mechanism of an abnormal gene product in contributing to the pathophysiology of CCA is not known. Of note, mice lacking Fbn2 or having a pathogenic variant in that gene have syndactyly.[ncbi.nlm.nih.gov]
  • Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood. 2017;129:667-679. Rumi E, Cazzola M. Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.[labtestsonline.it]

Prevention

  • Persistent knee contractures prevented him from walking. In his twenties he had an osteotomy of both femora and shortening of the patellar tendons which enabled him to walk for the first time in an upright position without external support.[ncbi.nlm.nih.gov]
  • Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: PGD is a valid screening tool for patienst affected of CCA and SBMA to prevent transmission of these genetic diseases from parents to children.[ncbi.nlm.nih.gov]
  • Early intervention for scoliosis can prevent morbidity later in life. Cardiac and ophthalmologic evaluations are recommended. Prognosis Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains.[orpha.net]
  • […] arachnodactyly The list of signs and symptoms mentioned in various sources for Macleod-Fraser syndrome includes the 3 symptoms listed below: * Congenital contractures * Long thin fingers * Restricted joint mobility Note that Macleod-Fraser syndrome symptoms Prevention[checkorphan.org]

References

Article

  1. Hecht F, Beals R. "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics. 1972;49(4):574-9.
  2. Gupta P, Putnam E, Carmical S, et al. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002;19(1):39-48.
  3. Ramos AM, Weaver D, Beals R. Congenital contractural arachnodactyly: report of four additional families and review of literature. Clin Genet. 1985;27:570-581.
  4. Tunçbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis. 2006;1:20.
  5. Beals R, Hecht F. Congenital contractural arachnodactyly: a heritable disorder of connective tissue. J Bone Joint Surg. 1971;53A:987.
  6. Takaesu-Miyagi S, Sakai H, Shiroma T. Ocular findings of Beals syndrom. Jpn J Ophthalmol. 2004;48:470-474.
  7. Putnam E, Park E, Aalfs C, Hennekam R, Milewicz D. Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am J Hum Genet. 1997;60:818-827.
  8. Robinson P, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000;37:9-25.
  9. Pyeritz R. The Marfan syndrome. Annu Rev Med. 2000;51:481-510.
  10. Roman M, Rosen S, Kramer-Fox R, Devereux R. Prognostic significance of the pattern of aortic root dilation in the Marfan syndrome. J Am Coll Cardiol. 1993;22:1470-6.

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Last updated: 2019-07-11 19:58