Contracture
Marfan Syndrome
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
Arachnodactyly
Microfilament Proteins
Connective Tissue Diseases
Ear, External
Chromosomes, Human, Pair 15
Genetic Linkage
Dilatation, Pathologic
Losartan
Carteolol
Aortic Aneurysm, Thoracic
Aortic Aneurysm, Abdominal
Cardiovascular Diseases
National Heart, Lung, and Blood Institute (U.S.)
Component of the NATIONAL INSTITUTES OF HEALTH. It conducts and supports research program related to diseases of the heart, blood vessels, lung, and blood; blood resources; and SLEEP WAKE DISORDERS. From 1948 until October 10, 1969, it was known as the National Heart Institute. From June 25, 1976, it was the National Heart and Lung Institute. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative.
Registries
Aortic Rupture
Radial Artery
Perindopril
Aortic Valve Insufficiency
Aneurysm, Dissecting
Aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the intima and media causes luminal occlusion. Dissection at the media, or between the media and the outer adventitia causes aneurismal dilation.
Congenital contractural arachnodactyly (Beals syndrome). (1/4)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended. (+info)Severe acute respiratory failure secondary to acute fibrinous and organizing pneumonia requiring mechanical ventilation: a case report and literature review. (2/4)
(+info)Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (3/4)
(+info)In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (4/4)
(+info)
Shprintzen-Goldberg Syndrome | The Marfan Foundation
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Confidential Consultation for Skin and Laser Center | Dr. Beals
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Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
Fibrillinopathy NGS panel | Connective Tissue Gene Tests
Glaucoma | Beals Optometry
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on...
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Connective tissue disease
Congenital contractural arachnodactyly - Also known as Beals syndrome. It is akin to Marfan syndrome but with contractures of ... "Congenital contractural arachnodactyly". Genetics Home Reference. Retrieved 2019-11-19. Reference, Genetics Home. "Loeys-Dietz ...
List of OMIM disorder codes
TBX1 Contractural arachnodactyly, congenital; 121050; FBN2 Convulsions, benign familial infantile, 3; 607745; SCN2A1 ...
Dolichostenomelia
Arachnodactyly Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book. Elsevier Health Sciences. p. 401 ...
Achard syndrome
... is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet ... PARISH JG (1960). "Skeletal syndromes associated with arachnodactyly". Proceedings of the Royal Society of Medicine. 53: 515-8 ...
Toe
Other variants may include syndactyly or arachnodactyly. Forefoot shape, including toe shape, exhibits significant variation ...
Munis Dundar
described Turkish family with dominantly-inherited blindness, scoliosis and arachnodactyly. Two brothers with abnormal ... blindness and arachnodactyly in a large Turkish family: is it a new syndrome?". Genetic Counseling (Geneva, Switzerland). 19 (3 ... Scoliosis and Arachnodactyly Syndrome 2008 Multiple Congenital Abnormalities and Mental Retardation 2012 All syndromes are in ... ", "Scoliosis, Blindness and Arachnodactyly Syndrome" and "Multiple Congenital Abnormalities and Mental Retardation Syndrome". ...
Angus cattle
"Congenital contractural arachnodactyly ('fawn calf syndrome') in Angus cattle" (PDF). NSW Department of Trade and Investment ... contractural arachnodactyly (CA), formerly referred to by the name of "fawn calf syndrome", which reduces mobility in the hips ...
Shprintzen-Goldberg syndrome
"A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and abdominal hernias". Journal of Craniofacial ...
Lujan-Fryns syndrome
... not unlike arachnodactyly) with joint hyperextensibility, shortened halluces (the big toes) and long second toes. The diagnosis ... "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal ...
Haim-Munk syndrome
... (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis") is a ... Haim, S.; Munk, J. (January 1965). "Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and a peculiar ... arachnodactyly), and osteolysis involving the distal phalanges of fingers and toes (acro-osteolysis). Permanent flexion ...
Bhaskar-Jagannathan syndrome
Similar or related medical conditions are arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed ...
Hypermobility (joints)
... arachnodactyly; positive Steinberg finger / Walker wrist signs). Abnormal skin: striae, hyperextensibility, thin skin, ...
Sergei Rachmaninoff
There is no indication that his immediate family had similar hand spans, ruling out familial arachnodactyly. Rachmaninov did ... their size and slenderness typical of arachnodactyly. However, Rachmaninov did not clearly exhibit any of the other clinical ... congenital contractural arachnodactyly), Ehlers-Danlos syndrome, homocystinuria, Stickler syndrome, or Sphrintzen-Goldberg ...
Camptodactyly
March 2009). "Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: ...
Cytochrome P450 reductase
... arachnodactyly and disordered steroidogenesis. However, the clinical and biochemical characteristics of patients with POR ...
Marden-Walker syndrome
It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly ... arachnodactyly and growth development delay. She ended up passing at 3 months due to pneumonia.[citation needed] Online ... arachnodactyly, chest deformation as pectus, kyphoscoliosis and absent deep tendon reflexes are frequent minor malformations ...
Antley-Bixler syndrome
Other symptoms, such as cardiac malformations, proptotic exophthalmos (bulging eyes), arachnodactyly (spider-like fingers) as ...
Antoine Marfan
... was affected by a condition known as congenital contractural arachnodactyly, and not Marfan's syndrome. Further eponymous ...
Ehlers-Danlos syndromes
... arachnodactyly), unusually long limbs, and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). It can be ...
List of diseases (C)
Continuous muscle fiber activity hereditary Continuous spike-wave during slow sleep syndrome Contractural arachnodactyly ... shunt Congenital central hypoventilation syndrome Congenital constricting band Congenital contractural arachnodactyly ... Cryptomicrotia brachydactyly syndrome Cryptophthalmos-syndactyly syndrome Cryptosporidiosis Cryptorchidism arachnodactyly ...
List of skin conditions
... palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis) Hidrotic ectodermal dysplasia (alopecia ...
List of diseases (M)
Mental retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly hypotonia ... cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly Mental ...
COX4I1
... and arachnodactyly. The homozygous mutation K101N and a de novo 16q24.1 interstitial duplication have been found to cause ...
CCA
... in anatomy Congenital contractural arachnodactyly, an autosomal dominant congenital connective tissue disorder Air China (ICAO ...
List of diseases (E)
... familial Extrapyramidal disorder Extrasystoles short stature hyperpigmentation microcephaly Eye defects arachnodactyly ...
Adducted thumb syndrome
... arachnodactyly, club feet, joint instability, facial clefting and bleeding disorders, as well as heart, kidney or intestinal ...
Marfanoid
... arachnodactyly, and hyperlaxity. Arachnodactyly (long fingers), long limbs, scoliosis (curved spine), a hidden feature of bony ...
Arterial tortuosity syndrome
Arachnodactyly Congenital diaphragmatic hernia Mental dysfunction Keratoconus Aortic regurgitation Blepharophimosis Arterial ...
Marfan syndrome
The following are some of the disorders that can manifest as "marfanoid": Congenital contractural arachnodactyly, also known as ... Aortic aneurysm or dilation Arachnodactyly GERD Bicuspid aortic valve Cysts Cystic medial necrosis Degenerative disk disease ...
List of diseases (A)
... absence of Arachnodactyly Arachnodactyly ataxia cataract aminoaciduria mental retardation Arachnodactyly mental retardation ...
Arachnodactyly: MedlinePlus Medical Encyclopedia
Arachnodactyly is a condition in which the fingers are long, slender, and curved. They look like the legs of a spider (arachnid ... Arachnodactyly is a condition in which the fingers are long, slender, and curved. They look like the legs of a spider (arachnid ... Some children are born with arachnodactyly. It may become more evident over time. Talk to your health care provider if your ...
Congenital contractural arachnodactyly: MedlinePlus Genetics
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. Explore symptoms, inheritance, ... Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically ... Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the ... Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that ...
Arachnodactyly - Wikipedia
Arachnodactyly ("spider fingers") is a condition in which the fingers and toes are abnormally long and slender, in comparison ... Arachnodactyly has been linked to mutations in both fibrillin-1 and fibrillin-2 genes.[citation needed] It remains unconfirmed ... Examples include Marfan syndrome, Ehlers-Danlos syndromes, Loeys-Dietz syndrome, congenital contractural arachnodactyly, and ... Marfanoid Viljoen, D. (1994). "Congenital contractural arachnodactyly (Beals syndrome)". Journal of Medical Genetics. 31 (8): ...
A clinical scoring system for congenital contractural arachnodactyly | Genetics in Medicine
... arachnodactyly, crumpled ears, and kyphoscoliosis as main features. Due to its rarity, rather aspecific clinical presentation, ... Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures ... A clinical scoring system for congenital contractural arachnodactyly. *Ilse Meerschaut MD ORCID: orcid.org/0000-0001-5502-05681 ... Meerschaut, I., De Coninck, S., Steyaert, W. et al. A clinical scoring system for congenital contractural arachnodactyly. Genet ...
Congenital contractural arachnodactyly - Wikipedia
Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital ... Congenital contractural arachnodactyly in cattle NIH Genetic and Rare Diseases Information Center (GARD) (2017-01-31). " ... "Congenital contractural arachnodactyly". Genetics Home Reference. 2013. Retrieved 2018-04-18. Tunçbilek E, Alanay Y (2006). " ... Hecht, F.; Beals, R. K. (April 1972). ""New" syndrome of congenital contractural arachnodactyly originally described by Marfan ...
Arachnodactyly - RightDiagnosis.com
Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Arachnodactyly. ... List of 38 disease causes of Arachnodactyly, patient stories, diagnostic guides. ... Arachnodactyly Treatments. Review further information on Arachnodactyly Treatments. Arachnodactyly: Animations *. Embryo *. ... Rud Syndrome ... arachnodactyly. S. *Stickler Syndrome ... arachnodactyly. U. *Upton Young syndrome ... Arachnodactyly. V. * ...
Submit website to GoGuides Arachnodactyly Directory.
Add your website to GoGuides Arachnodactyly topic and gain more traffic and exposure for your website. ... GoGuides topic covering Arachnodactyly related content and resources. ... GoGuides , Health & Fitness , Conditions & Diseases , Connective Tissue Disorders , Arachnodactyly Step 1) Verify you have ... You are submitting your website to GoGuides Arachnodactyly Topic. Step 2) Agree to the GoGuides Express Review Terms and ...
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
... and characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the ... Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan ... Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly Nat Genet. 1995 Dec;11( ... Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan ...
Arachnodactyly | Multimedia Encyclopedia | Health Information | St. Luke's Hospital
Arachnodactyly is a condition in which the fingers are long, slender, and curved. They look like the legs of a spider (arachnid ... Arachnodactyly. Dolichostenomelia (refers to a long, slender body, not just fingers); Spider fingers; Achromacria ... Some children are born with arachnodactyly. It may become more noticeable over time. Talk to your health care provider during a ...
IJMS | Free Full-Text | Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural...
CCA is characterized by arachnodactyly, camptodactyly, contrature of major joints, scoliosis, pectus deformities, and crumpled ... Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. ... Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. Guoling You ... Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. CCA is characterized by ...
Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome...
CCA is characterized by arachnodactyly, dolichostenomelia, pectus deformities, kyphoscoliosis, congenital contractures and a ... Congenital contractural arachnodactyly (CCA, OMIM 121050), also known as Beals-Hecht syndrome, is an autosomal dominant ... to identify the genetic cause of a 4-generation Chinese family of Tujia ethnicity with congenital contractural arachnodactyly ...
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on...
The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which ... Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on ... whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5. There was no linkage of mitral ... congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ...
Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4...
Hoyer, J; Kraus, C; Hammersen, G; Geppert, J P; Rauch, A (2009). Lethal cutis laxa with contractural arachnodactyly, overgrowth ... Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial ... Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial ... Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 ...
Cleft palate and Arachnodactyly, related diseases and genetic alterations | MENDELIAN.CO
Congenital Contractural Arachnodactyly | Article about Congenital Contractural Arachnodactyly by The Free Dictionary
Find out information about Congenital Contractural Arachnodactyly. A rare congenital defect of the skeletal system marked by ... abnormally long hand and foot bones Explanation of Congenital Contractural Arachnodactyly ... arachnodactyly. (redirected from Congenital Contractural Arachnodactyly). Also found in: Medical, Acronyms, Wikipedia. ... arachnodactyly. [ə¦rak·nə′dak·tə·lē] (medicine) A rare congenital defect of the skeletal system marked by abnormally long hand ...
Abnormal facial shape and Arachnodactyly, related diseases and genetic alterations | MENDELIAN.CO
ABNORMAL FACIAL SHAPE and ARACHNODACTYLY related symptoms, diseases, and genetic alterations. Get the complete information with ... Abnormal facial shape and Arachnodactyly, related diseases and genetic alterations Abnormal facial shape, and Arachnodactyly. ... Diseases related with Abnormal facial shape and Arachnodactyly. In the following list you will find some of the most common ... Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life ( ...
Arachnodactyly | Article about arachnodactyly by The Free Dictionary
A rare congenital defect of the skeletal system marked by abnormally long hand and foot bones Explanation of arachnodactyly ... Looking for arachnodactyly? Find out information about arachnodactyly. ... arachnodactyly. Also found in: Medical, Wikipedia. arachnodactyly. [ə¦rak·nə′dak·tə·lē] (medicine) A rare congenital defect of ... Arachnodactyly , Article about arachnodactyly by The Free Dictionary https://encyclopedia2.thefreedictionary.com/arachnodactyly ...
Arthritis and Arachnodactyly, related diseases and genetic alterations | MENDELIAN.CO
ARTHRITIS and ARACHNODACTYLY related symptoms, diseases, and genetic alterations. Get the complete information with our medical ... Arthritis and Arachnodactyly, related diseases and genetic alterations Arthritis, and Arachnodactyly. Diseases related with ... In the following list you will find some of the most common rare diseases related to Arthritis and Arachnodactyly that can help ... Patients with Arthritis and Arachnodactyly. may also develop some of the following symptoms: Common Symptoms - More than 50% ...
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Congenital contractural arachnodactyly (Beals syndrome) | Orphanet Journal of Rare Diseases | Full Text
... arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on ... Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder ... Congenital contractural arachnodactyly (CCA; Beals syndrome, MIM # 121050) is an autosomal dominantly inherited connective ... Kupeli S, Korkmaz A, Bulun A, Yurdakok M, Tuncbilek E: Congenital contractural arachnodactyly and femoral fracture in a newborn ...
Congenital contractural arachnodactyly | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... and questions answered by our Genetic and Rare Diseases Information Specialists for Congenital contractural arachnodactyly ... Congenital contractural arachnodactyly Información en español Title Other Names:. Beals syndrome; Arachnodactyly, contractural ... Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of ... contractural arachnodactyly (CCA) is caused by mutations. in the FBN2 gene. . The FBN2 gene provides instructions for producing ...
A clinical scoring system for congenital contractural arachnodactyly<...
A clinical scoring system for congenital contractural arachnodactyly. In: Genetics in Medicine. 2020 ; Vol. 22, No. 1. pp. 124- ... Purpose: Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint ... Fingerprint Dive into the research topics of A clinical scoring system for congenital contractural arachnodactyly. Together ... A clinical scoring system for congenital contractural arachnodactyly. Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, ...
Arachnodactyly - intellectual disability - dysmorphism | Genetic and Rare Diseases Information Center (GARD) - an...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Arachnodactyly - ... Arachnodactyly - intellectual disability - dysmorphism Title Other Names:. De Die-Smulders-Vles-Fryns syndrome; Arachnodactyly- ... marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. . Additional features may include ...
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Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical...
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Contractural32
- Congenital contractural arachnodactyly is a disorder that affects many parts of the body. (medlineplus.gov)
- Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). (medlineplus.gov)
- The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened. (medlineplus.gov)
- The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide. (medlineplus.gov)
- Mutations in the FBN2 gene cause congenital contractural arachnodactyly. (medlineplus.gov)
- The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly. (medlineplus.gov)
- Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (medlineplus.gov)
- FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. (medlineplus.gov)
- Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. (wikipedia.org)
- Congenital contractural arachnodactyly may be the result of new mutations in the FBN2 gene or it may be inherited from a parent in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. (wikipedia.org)
- Congenital contractural arachnodactyly in cattle NIH Genetic and Rare Diseases Information Center (GARD) (2017-01-31). (wikipedia.org)
- Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder manifesting joint contractures, arachnodactyly, crumpled ears, and kyphoscoliosis as main features. (nature.com)
- Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. (nature.com)
- Cardiac anomalies complicating congenital contractural arachnodactyly. (nature.com)
- Congenital contractural arachnodactyly complicated with aortic dilatation and dissection: case report and review of literature. (nature.com)
- Anderson RA, Koch S, Camerini-Otero RD. Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred. (nature.com)
- Cardiac defects in a patient with congenital contractural arachnodactyly. (nature.com)
- Contractural arachnodactyly with mitral regurgitation and iridodonesis. (nature.com)
- Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree. (nature.com)
- Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly. (nature.com)
- Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome (MFS) and characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. (nih.gov)
- Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue. (mdpi.com)
- You G, Zu B, Wang B, Wang Z, Xu Y, Fu Q. Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly. (mdpi.com)
- Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. (nih.gov)
- The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5. (nih.gov)
- Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders--congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1). (nih.gov)
- Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5. (nih.gov)
- 5,6] Molecular analysis of Marfan-like conditions has unveiled that patients with congenital contractural arachnodactyly (CCA or Beals syndrome) carry germline mutations of the fibrillin 2 (FBN2) gene on chromosome 5q23-q31. (thefreedictionary.com)
- Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. (biomedcentral.com)
- The features of congenital contractural arachnodactyly (CCA) vary from person to person, both within and between families. (cdc.gov)
- A variant of the fibrillin-2 gene, FBN2 , causes congenital contractural arachnodactyly, known as Beals syndrome. (medscape.com)
- Furthermore, focusing on the fibrillinopathies Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCA), we screened 500 genomes of our patients for co-occurring variants in FBN1 and FBN2. (uzh.ch)
Congenital1
- Complete penetrance is seen in MFS, EDS IV, EDS VI, congenital contractoral arachnodactyly (CCA), and Loeys-Dietz syndrome (LDS), with rare exceptions. (arupconsult.com)
Contractures4
- Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial rotation of feet, spina bifida of the os sacrum, microcephaly and facial dysmorphism were noted. (uzh.ch)
- Joint hyperlaxity, arachnodactyly , pecus excavatum or carinatum, scoliosis and contractures of the feet (talipes equinovarus) are seen in LDS patients, and are also common in Marfan syndrome. (thefreedictionary.com)
- Neonatal MFS patients and severe lethal CCA share more features, such as arachnodactyly, joint contractures, and some facial features. (biomedcentral.com)
- In addition to the typical skeletal findings (arachnodactyly, joint contractures, and scoliosis) and abnormally shaped ears, infants with the severe/lethal form have many cardiovascular and gastrointestinal abnormalities. (cdc.gov)
Marfan3
- citation needed] It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. (wikipedia.org)
- In regard to the aforementioned syndrome patients we have to note that they presented with a variety of the expected typical characteristics, more specifically MVP, arachnodactyly , muscular atrophy and ectopia lentis for the Marfan patients, and MVP skin and joint hyperextensibility (8), ectopia lentis and highgraded myopia for the Ehlers-Danlos patients. (thefreedictionary.com)
- Marfan syndrome is sometimes called arachnodactyly, which means 'spider-like fingers' in Greek, since one of the characteristic signs of the disease is disproportionately long fingers and toes. (healthofchildren.com)
Scoliosis3
- 1 Characteristic features include progressive aortic dilatation associated with aortic valve incompetence, mitral valve prolapse and incompetence, lens dislocation and myopia, and a tall and thin body (fig 1) with long limbs, arachnodactyly, pectus deformities, and sometimes scoliosis. (bmj.com)
- The skeletal abnormalities of affected individuals typically include tall stature, long slender limbs (dolichostenomelia), scoliosis, arachnodactyly, and pectus excavatum or carinatum. (molvis.org)
- A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly and arachnodactyly. (genomeweb.com)
Dolichostenomelia2
- People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). (medlineplus.gov)
- dolichostenomelia (abnormally long, thin limbs) and arachnodactyly (spider-digits). (abmp.com)
Camptodactyly2
- CCA shares skeletal features with MFS such as marfanoid habitus, arachnodactyly, camptodactyly and kyphoscoliosis. (biomedcentral.com)
- Arachnodactyly and/or camptodactyly have also been reported. (proteopedia.org)
Syndrome1
- Haim-Munk syndrome also exhibits arachnodactyly , acroosteolysis, atrophy of nails, and deformity of the phalanges in the hands. (thefreedictionary.com)
Fingers3
- Arachnodactyly is a condition in which the fingers are long, slender, and curved. (medlineplus.gov)
- Arachnodactyly ("spider fingers") is a condition in which the fingers and toes are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. (wikipedia.org)
- It also exhibits arachnodactyly and deformity of nails and fingers in the hand. (thefreelibrary.com)
Mutations2
- Arachnodactyly has been linked to mutations in both fibrillin-1 and fibrillin-2 genes. (wikipedia.org)
- Our observation increases the number of cases with fibulin-4 mutations to three and extends the phenotypic spectrum of fibulin-4 mutations by microcephaly, overgrowth and arachnodactyly. (uzh.ch)
Marfanoid habitus1
- The Steinberg test for arachnodactyly , in which the thumb is adducted across the palm, was considered a possible indication of marfanoid habitus, if the thumb projected beyond the ulnar boarder of the hand. (thefreedictionary.com)
Diseases4
- See detailed information below for a list of 38 causes of Arachnodactyly , Symptom Checker , including diseases and drug side effect causes. (rightdiagnosis.com)
- This information refers to the general prevalence and incidence of these diseases, not to how likely they are to be the actual cause of Arachnodactyly. (rightdiagnosis.com)
- In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Arachnodactyly that can help you solving undiagnosed cases. (mendelian.co)
- In the following list you will find some of the most common rare diseases related to Arthritis and Arachnodactyly that can help you solving undiagnosed cases. (mendelian.co)
Periodontitis1
- It is characterized clinically by palmo-plantar keratoderma (PPK), aggressive early onset of periodontitis, onychogryphosis, arachnodactyly , acroosteolysis and pes planus. (thefreedictionary.com)
Hearing impairment1
- Other features, such as arachnodactyly and visual or hearing impairment, are more variable. (mendelian.co)
Acroosteolysis1
- Additional features are pes planus, arachnodactyly, and acroosteolysis. (nih.gov)
Palate1
- Subsequently, several anomalies were evidenced: narrow palate, pectus excavatum, recurrent hernias, arachnodactyly , general marfanoid physical aspect, and joint laxity with a high degree of elbow extension, besides cardiac and ocular anomalies. (thefreedictionary.com)
Symptoms1
- Listed below are some combinations of symptoms associated with Arachnodactyly, as listed in our database. (rightdiagnosis.com)
Susceptibility1
- On general examination patient may have intra cerebral calcifications, arachnodactyly, increased susceptibility to infections and mental retardation.3 The prevalence of this disease is 1 to 4 per million people. (thefreelibrary.com)