Arachnodactyly

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Arachnodactyly
Other namesAchromachia
Aracnodactilia.jpg
Bilateral arachnodactyly
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg
Complications None
Usual onsetBirth
DurationLife-long
CausesMutations in the fibrillin-2 gene, in chromosome 5q23

Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm. This condition is present at birth.

Contents

Causes

This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3] It is also seen in congenital contractural arachnodactyly, [4] which is caused by mutation in the gene encoding fibrillin-2 on chromosome 5q23. [5]

Notable cases

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. [6]

It is also uncertain if blues guitarist and vocalist Robert Johnson's long fingers were due to Marfan syndrome.[ citation needed ]

See also

Related Research Articles

<span class="mw-page-title-main">Marfan syndrome</span> Genetic disorder involving connective tissue

Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable.

<span class="mw-page-title-main">Noonan syndrome</span> Genetic condition involving facial, heart, blood and skeletal features

Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems may include pulmonary valve stenosis. The breast bone may either protrude or be sunken, while the spine may be abnormally curved. Intelligence is often normal. Complications of NS can include leukemia.

A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as a target of pathology. Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs. These tissues form a framework, or matrix, for the body, and are composed of two major structural protein molecules: collagen and elastin. There are many different types of collagen protein in each of the body's tissues. Elastin has the capability of stretching and returning to its original length—like a spring or rubber band. Elastin is the major component of ligaments and skin. In patients with connective tissue disease, it is common for collagen and elastin to become injured by inflammation (ICT). Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune system that is directed against one's own body tissues (autoimmunity).

Smith–Magenis syndrome (SMS), also known as 17p- syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, difficulty sleeping, and numerous behavioral problems such as self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 individuals.

<span class="mw-page-title-main">Achard syndrome</span> Medical condition

Achard syndrome is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome.

<span class="mw-page-title-main">Cohen syndrome</span> Medical condition

Cohen syndrome is a very rare autosomal recessive genetic disorder with varied expression, characterised by obesity, intellectual disability, distinct craniofacial abnormalities and potential ocular dysfunction.

<span class="mw-page-title-main">Dermatoglyphics</span>

Dermatoglyphics is the scientific study of fingerprints, lines, mounts and shapes of hands, as distinct from the superficially similar pseudoscience of palmistry.

<span class="mw-page-title-main">Robinow syndrome</span> Rare genetic disorder characterized by a fetal face

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N. Silverman and Hugo D. Smith, in the American Journal of Diseases of Children. By 2002, over 100 cases had been documented and introduced into medical literature.

<span class="mw-page-title-main">Mowat–Wilson syndrome</span> Medical condition

Mowat–Wilson syndrome is a rare genetic disorder that was clinically delineated by David R. Mowat and Meredith J. Wilson in 1998. The condition affects both males and females, has been described in various countries and ethnic groups around the world, and occurs in approximately 1 in 50,000-100,000 births.

<span class="mw-page-title-main">Camptodactyly</span> Medical condition

Camptodactyly is a medical condition that causes one or more fingers or toes to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints.

Congenital contractural arachnodactyly (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the fibrillin-2 (FBN2) gene rather than the fibrillin-1 (FBN1) gene.

<span class="mw-page-title-main">Fibrillin-1</span> Protein-coding gene in the species Homo sapiens

Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular matrix glycoprotein that serves as a structural component of 10-12 nm calcium-binding microfibrils. These microfibrils provide force bearing structural support in elastic and nonelastic connective tissue throughout the body. Mutations altering the protein can result in a variety of phenotypic effects differing widely in their severity, including fetal death, developmental problems, Marfan syndrome or in some cases Weill-Marchesani syndrome.

Marfanoid is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.

<span class="mw-page-title-main">Lujan–Fryns syndrome</span> Medical condition

Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs. LFS is also associated with psychopathology and behavioral abnormalities, and it exhibits a number of malformations affecting the brain and heart. The disorder is inherited in an X-linked dominant manner, and is attributed to a missense mutation in the MED12 gene. There is currently no treatment or therapy for the underlying MED12 malfunction, and the exact cause of the disorder remains unclear.

<span class="mw-page-title-main">Ectrodactyly</span> Medical condition

Ectrodactyly, split hand, or cleft hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.

<span class="mw-page-title-main">Spondylo-meta-epiphyseal dysplasia</span> Medical condition

Spondylo-meta-epiphyseal dysplasia (SMED) is a rare autosomal-recessive disease that causes skeletal disorders. SMED is thought to be caused by a mutation in the Discoidin Domain Receptor 2 (DDR2) gene.

<span class="mw-page-title-main">Wiedemann–Rautenstrauch syndrome</span> Medical condition

Wiedemann–Rautenstrauch (WR) syndrome, also known as neonatal progeroid syndrome, is a rare autosomal recessive progeroid syndrome. There have been over 30 cases of WR. WR is associated with abnormalities in bone maturation, and lipids and hormone metabolism.

<span class="mw-page-title-main">Munis Dundar</span>

Munis Dundar is a professor of Medical Genetics and Head of the Medical Genetics Department at Erciyes University, Kayseri, Turkey. He is founder and head of the Medical Genetics Department at Erciyes University and has carried out various administrative tasks since 1996. He defined four genetic syndromes in the medical literature: the “Dundar Syndrome”, “Dundar Acropectoral Syndrome”, “Scoliosis, Blindness and Arachnodactyly Syndrome” and “Multiple Congenital Abnormalities and Mental Retardation Syndrome”. He has taken part as project coordinator and assistant investigator in many research projects and has prepared articles published in international journals since 1995. He is the president of EBTNA and representative from Turkey. He is also the editor-in-chief of The EuroBiotech Journal.

<span class="mw-page-title-main">Dolichonychia</span> Medical condition

Dolichonychia is a medical condition in which the nail beds of the fingers and toes are abnormally long and slender, specifically, a finger nail index of 1.30 or more, it is a common feature in people with connective tissue disorders, such as Ehlers–Danlos syndromes, Marfan syndrome, and hypohidrotic ectodermal dysplasia., it often appears alongside arachnodactyly and/or dolichostenomelia, which is the condition of having long and slender fingers and toes.

Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.

References

  1. Buntinx, I. M.; Willems, P. J.; Spitaels, S. E.; Van Reempst, P. J.; De Paepe, A. M.; Dumon, J. E. (April 1991). "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal of Medical Genetics. 28 (4): 267–273. doi:10.1136/jmg.28.4.267. ISSN   0022-2593. PMC   1016831 . PMID   1856834.
  2. Keer, Rosemary; Grahame, Rodney (2003-06-27). Hypermobility syndrome: Recognition and management for physiotherapists. Butterworth Heinemann. ISBN   978-0-7506-5390-9.[ permanent dead link ]
  3. Pagon, RA.; Bird, TC.; Dolan, CR.; Stephens, K.; Picker, JD.; Levy, HL. (1993). "Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency". PMID   20301697.{{cite journal}}: Cite journal requires |journal= (help)
  4. Viljoen, D. (1994). "Congenital contractural arachnodactyly (Beals syndrome)". Journal of Medical Genetics. 31 (8): 640–643. doi:10.1136/jmg.31.8.640. PMC   1050028 . PMID   7815423.
  5. Hecht, Frederick; Beals, Rodney K. (1972-04-01). ""New" Syndrome of Congenital Contractural Arachnodactyly Originally Described by Marfan in 1896". Pediatrics. 49 (4): 574–579. doi:10.1542/peds.49.4.574. ISSN   0031-4005. PMID   4552107. S2CID   1846022.
  6. "Forum - Search results for Rachmaninoff Marfan". Website of the Rachmaninoff Network. 7 September 2016. Retrieved 4 August 2020.[ permanent dead link ]