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.
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  .
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 .
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  .
Ear changes include a prominent antihelix and root of helix and an irregular helix with a crumpled appearance.
Entire Body System
- 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]
He had profound intellectual disability with autism. All exons of FBN2, the gene associated with congenital contractural arachnodactyly, were sequenced and no disease-causing mutation was found. [ncbi.nlm.nih.gov]
Intellectual Disability NGS Panel that also includes the following genes: BRCA2 F5 FMR1 MTHFR TTR UBE3A PTEN MCCC1 MCCC2 AGL More info about this panel Sudden Death Syndrome NGS Panel Panel By Fulgent Genetics Fulgent Genetics in United States. [mendelian.co]
Distinguishing features of SGS include hypotonia and intellectual disability. Aortic root dilatation is less frequent in SGS than in LDS or MFS, but, when present, it can be severe. [mayomedicallaboratories.com]
- Atrial Septal Defect
No ocular problems were found in all patients, but congenital heart defects were detected in 32.2% of them. Atrial septal defect and ventricular septal defect are common components in our patients. [ncbi.nlm.nih.gov]
[…] in 15%-mitral valve prolapse, atrial septal defect, ventricular septal defect, aortic hypoplasia Cardiovascular complications in 2/3aortic aneurysm and regurgitation, lesions of pulmonary artery and mitral valve with mitral insufficiency, arrhythmias [fetalultrasound.com]
The cardiac associations with Beals syndrome has been reported in various studies and may be present in 32% of cases, usually atrial septal defect or a ventricular defect unlike the structural cardiac defects in the form of aortic regurgitation, aortic [indianpediatrics.net]
septal defect An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ] 0001631 Autosomal dominant inheritance 0000006 Bicuspid aortic valve Aortic valve has two leaflets rather [rarediseases.info.nih.gov]
- Developmental Delay
DELAY Congenital Contractures, Torticollis, and Malignant Hyperthermia Congenital Ectodermal Dysplasia with Hearing Loss Davenport Donlan Syndrome Distal Arthrogryposis Multiplex Congenita, Type 1 + Distal Arthrogryposis Multiplex Congenita, Type 2 + [rgd.mcw.edu]
Homocystinuria is clinically distinguishable from CCA by its other manifestations, such as lens subluxation, osteoporosis, and often developmental delay, as well as predisposition to thromboembolism. [ncbi.nlm.nih.gov]
Most common symptoms of ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 Autosomal dominant inheritance Global developmental delay Pica Scoliosis Micrognathia More info about ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9 SOURCES: MESH GARD SCTID UMLS NCIT ORPHANET OMIM MONDO [mendelian.co]
Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. [invitae.com]
MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]
- 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]
- Chest Deformity
Just like Marfan syndrome it is characterized by arachnodactyly, dolichostenomelia, chest deformities and kyphoscoliosis. However, in contrast to Marfan syndrome CCA does not present cardiovascular or ocular symptoms. [medical-genetics.de]
Face, Head & Neck
- Short Neck
The patient had an oval face with a small puckered mouth, a high arched palate, with limited extension of the jaw, hypoplasia of the maxillae and a tendency to retrognathia and a short neck. [jpgmonline.com]
neck Decreased length of neck 0000470 Ulnar deviation of finger Finger bends toward pinky 0009465 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Showing of 45 | Last updated: 6/1/2019 Congenital contractural [rarediseases.info.nih.gov]
Are there any other syndromes that can easily be confused with CA? Why is ‘fawn calf syndrome’ now called congenital contractural arachnodactyly? Download Primefact 1015 First Edition Published: May 2010 [dpi.nsw.gov.au]
Historically CCA is of interest, because it was confused with Marfan's syndrome. Reports of patients with what appears to be CCA were encountered from various parts of the world dating from every decade since 1900. [pediatrics.aappublications.org]
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances Clinical Correlations: Some individuals who have involvement of 1 or more [mayomedicallaboratories.com]
Both pregnancies presented with clinical features of arthrogryposis multiplex congenita/fetal akinesia syndrome (AMC/FAS), including clenched fists and multiple joint contractures on repeat prenatal ultrasound examinations. [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 .
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  .
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 .
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]
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- 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.
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- Robinson P, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000;37:9-25.
- Pyeritz R. The Marfan syndrome. Annu Rev Med. 2000;51:481-510.
- 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.