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].

• Arachnodactyly

  Evaluación electroclínica del sistema nervioso periférico en un caso de aracnodactilia contractural congénita (síndrome de Beals-Hecht) / Electroclinical evaluation of the peripheral nervous system in a case of congenital contractural arachnodactyly or [pesquisa.bvsalud.org]

  @article{dff119c7cd7c4558abab5bf44d29e4e6, title = "Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype", abstract = "Congenital contractural arachnodactyly (CCA) is an autosomal [experts.umn.edu]

  Here, we report a 9-year-old male child with severe skeletal manifestations of congenital contractural 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]

• 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]

• Muscular Atrophy

  Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous. [ncbi.nlm.nih.gov]

  Neurogenic muscular atrophy is a new abnormality associated with CCA, suggesting that CCA is clinically heterogeneous. KEY WORDS: congenital contractural arachnodactyly, spinal muscular atrophy, motor neuron disease, survival motor neuron gene. [scielo.br]

  atrophy, Journal of Assisted Reproduction and Genetics, 33, 11, (1459), (2016). [doi.org]

  The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy. [rarediseases.org]

• Fracture

  Although it is a connective tissue disorder affecting bone structure and formation, coexistence of bony fractures in CCA patients have not been reported before. [ncbi.nlm.nih.gov]

  Generalized osteoporosis is well documented, but fractures of long bones are uncommon. A case report with a femoral fracture in a neonate discussed a predisposition versus birth injury due to cesarean delivery [ 6 ]. [doi.org]

  The severe osteopenia, blue sclera, and frequent spontaneous fractures of the long bones, so characteristic of osteogenesis imperfecta, are not seen in CCA. [scielo.br]

• Muscle Weakness

  The onset of SMA type III (Kugelberg-Welander disease) is after the age of 2 years and is characterized by proximal muscle weakness, predominantly of the lower limbs. [scielo.br]

• Foot Deformity

  Typical joint findings are medially overlapping fingers, clenched fists, ulnar deviation of fingers, camptodactyly, positional foot deformities, and clubfoot. [ncbi.nlm.nih.gov]

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].

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]

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]

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]

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]

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]

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]

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]

D. (2002) Taxonomy and epidemiology of spinal cord injury pain. In: Yezierski, R.P. and Burchiel, K. (eds.) [shiga-med.ac.jp]

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]

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]

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]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Marfan syndrome (MFS) is an autosomal dominant genetic disorder affecting the connective tissue that occurs in approximately [mayomedicallaboratories.com]

Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended. [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]

1. Hecht F, Beals R. "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. Pediatrics. 1972;49(4):574-9.
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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.
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