Hand Deformities, Acquired
Hand Deformities
Hand Deformities, Congenital
Joint Deformities, Acquired
Foot Deformities, Acquired
Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities. (1/13)
Mutations in the gene for neural cell adhesion molecule L1 (L1CAM) result in a debilitating X-linked congenital disorder of brain development. At the neuronal cell surface L1 may interact with a variety of different molecules including itself and two other CAMs of the immunoglobulin superfamily, axonin-1 and F11. However, whether all of these interactions are relevant to normal or abnormal development has not been determined. Over one-third of patient mutations are single amino acid changes distributed across 10 extracellular L1 domains. We have studied the effects of 12 missense mutations on binding to L1, axonin-1 and F11 and shown for the first time that whereas many mutations affect all three interactions, others affect homophilic or heterophilic binding alone. Patient pathology is therefore due to different types of L1 malfunction. The nature and functional consequence of mutation is also reflected in the severity of the resultant phenotype with structural mutations likely to affect more than one binding activity and result in early mortality. Moreover, the data indicate that several extracellular domains of L1 are required for homophilic and heterophilic interactions. (+info)A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. (2/13)
Split hand-split foot malformation (SHFM) is characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits. SHFM is usually an autosomal dominant condition and at least five loci have been identified in humans. Mutation analysis of the DACTYLIN gene, suspected to be responsible for SHFM3 in chromosome 10q24, was conducted in seven SHFM patients. We screened the coding region of DACTYLIN by single-strand conformation polymorphism and sequencing, and found no point mutations. However, Southern, pulsed field gel electrophoresis and dosage analyses demonstrated a complex rearrangement associated with a approximately 0.5 Mb tandem duplication in all the patients. The distal and proximal breakpoints were within an 80 and 130 kb region, respectively. This duplicated region contained a disrupted extra copy of the DACTYLIN gene and the entire LBX1 and beta-TRCP genes, known to be involved in limb development. The possible role of these genes in the SHFM3 phenotype is discussed. (+info)THE DE LANGE SYNDROME: REPORT OF THREE CASES. (3/13)
Three cases of de Lange's syndrome are described. This condition is characterized by generally severe mental retardation, reduced stature, mild microcephaly, hypertrichosis, various anomalies of hands and feet, and a peculiar facies. The most outstanding features of the latter are the low forehead, profuse, generally confluent eyebrows, abundant long eyelashes, eyes that frequently slant downwards and outwards in antimongoloid fashion, pug nose with prominent anteverted nostrils, increased distance between nose and vermilion border of upper lip, slight reduction in size of chin, and often abnormally low-placed ears. The etiology of de Lange's syndrome is at present unknown. (+info)Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems. (4/13)
BACKGROUND: Heterozygous mutations in the COL1A1 or COL1A2 gene encoding the alpha1 and alpha2 chain of type I collagen generally cause either osteogenesis imperfecta or the arthrochalasis form of Ehlers-Danlos syndrome (EDS). Homozygous or compound heterozygous COL1A2 mutations resulting in complete deficiency of the proalpha2(I) collagen chains are extremely rare and have been reported in only a few patients, albeit with variable phenotypic outcome. METHODS: The clinical features of the proband, a 6 year old boy, were recorded. Analysis of proalpha and alpha-collagen chains was performed by SDS-polyacrylamide gel electrophoresis using the Laemmli buffer system. Single stranded conformation polymorphism analysis of the proband's DNA was also carried out. RESULTS: In this report we show that complete lack of proalpha2(I) collagen chains can present as a phenotype reminiscent of mild hypermobility EDS during childhood. CONCLUSIONS: Biochemical analysis of collagens extracted from skin fibroblasts is a powerful tool to detect the subset of patients with complete absence of proalpha2(I) collagen chains, and in these patients, careful cardiac follow up with ultrasonography is highly recommended because of the risk for cardiac valvular problems in adulthood. (+info)EEC syndrome sans clefting: variable clinical presentations in a family. (5/13)
Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member. (+info)Systemic sclerosis. (6/13)
Systemic sclerosis (scleroderma) is a rare generalized disorder of connective tissue origin. This condition is predominantly a clinical diagnosis, based on the clinical signs and symptoms. Here is a case report of 26-year-old female patient with the classical features of this disease. This case is reported for its rarity and variable expressivity. This article also reviews the literature of this uncommon condition. (+info)Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. (7/13)
(+info)Another case of microcephaly, facial clefting, and preaxial polydactyly. (8/13)
We describe a nine month old boy with failure to thrive, developmental delay, bilateral cleft lip and palate, and left preaxial polydactyly. The features are similar to those in a child described by Howard and Young and may be the second case of a previously unknown syndrome. (+info)Acquired hand deformities refer to structural changes in the hand or fingers that occur after birth, as a result of injury, illness, or other external factors. These deformities can affect any part of the hand, including the bones, joints, muscles, tendons, ligaments, and nerves. Common causes of acquired hand deformities include trauma, infection, degenerative diseases such as arthritis, tumors, and neurological conditions.
The symptoms of acquired hand deformities can vary depending on the severity and location of the deformity. They may include pain, stiffness, swelling, decreased range of motion, loss of function, and changes in appearance. Treatment for acquired hand deformities may involve a combination of medical interventions, such as medication, physical therapy, or splinting, as well as surgical procedures to correct the underlying structural problem. The goal of treatment is to relieve symptoms, improve function, and restore normal appearance and movement to the hand.
Hand deformities refer to any abnormal changes in the shape or structure of the hand, which can result from various causes such as genetic factors, injuries, illnesses, or aging. These deformities may affect one or more parts of the hand, including the bones, joints, muscles, tendons, ligaments, and nerves. Common examples of hand deformities include:
1. Trigger finger: A condition where the affected finger or thumb gets locked in a bent position and can only be straightened with a snapping motion.
2. Dupuytren's contracture: A progressive hand deformity that causes the fingers to bend towards the palm due to thickening and shortening of the palmar fascia.
3. Mallet finger: An injury to the extensor tendon at the end joint of a finger, causing it to droop and making it difficult to straighten the fingertip.
4. Boutonnière deformity: A condition where the middle joint of a finger is dislocated and cannot be straightened due to damage to the central slip of the extensor tendon.
5. Camptodactyly: A congenital hand deformity characterized by permanent flexion of one or more fingers, typically affecting the little finger.
6. Rheumatoid arthritis: An autoimmune disease that can cause joint inflammation and damage, leading to hand deformities such as swan neck deformity and boutonnière deformity.
7. Fractures or dislocations: Trauma to the hand can result in various deformities depending on the severity and location of the injury.
8. Nerve injuries: Damage to nerves in the hand can lead to muscle weakness, numbness, tingling, and deformities such as claw hand or ulnar claw hand.
9. Osteoarthritis: A degenerative joint disease that commonly affects the hands, causing pain, stiffness, and potential deformities in the fingers and thumb.
10. Congenital hand differences: Birth defects that result in missing or abnormally formed parts of the hand, such as radial clubhand or cleft hand.
Congenital hand deformities refer to physical abnormalities or malformations of the hand, wrist, and/or digits (fingers) that are present at birth. These deformities can result from genetic factors, environmental influences during pregnancy, or a combination of both. They may affect the bones, muscles, tendons, joints, and other structures in the hand, leading to varying degrees of impairment in function and appearance.
There are numerous types of congenital hand deformities, some of which include:
1. Polydactyly: The presence of extra digits on the hand, which can be fully formed or rudimentary.
2. Syndactyly: Webbing or fusion of two or more fingers, which may involve soft tissue only or bone as well.
3. Clinodactyly: A curved finger due to a sideways deviation of the fingertip, often affecting the little finger.
4. Camptodactyly: Permanent flexion or bending of one or more fingers, typically involving the proximal interphalangeal joint.
5. Trigger Finger/Thumb: A condition where a finger or thumb becomes locked in a bent position due to thickening and narrowing of the tendon sheath.
6. Radial Club Hand (Radial Ray Deficiency): Underdevelopment or absence of the radius bone, resulting in a short, curved forearm and hand deformity.
7. Ulnar Club Hand (Ulnar Ray Deficiency): Underdevelopment or absence of the ulna bone, leading to a short, curved forearm and hand deformity.
8. Cleidocranial Dysplasia: A genetic disorder affecting bone growth, resulting in underdeveloped or absent collarbones, dental abnormalities, and occasionally hand deformities.
9. Apert Syndrome: A rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and other skeletal abnormalities.
10. Holt-Oram Syndrome: A genetic disorder involving heart defects and upper limb deformities, such as radial ray deficiency or thumb anomalies.
Treatment for hand deformities varies depending on the specific condition and severity. Options may include physical therapy, bracing, splinting, medications, or surgical intervention.
Acquired joint deformities refer to structural changes in the alignment and shape of a joint that develop after birth, due to various causes such as injury, disease, or wear and tear. These deformities can affect the function and mobility of the joint, causing pain, stiffness, and limited range of motion. Examples of conditions that can lead to acquired joint deformities include arthritis, infection, trauma, and nerve damage. Treatment may involve medication, physical therapy, or surgery to correct the deformity and alleviate symptoms.
Acquired foot deformities refer to structural abnormalities of the foot that develop after birth, as opposed to congenital foot deformities which are present at birth. These deformities can result from various factors such as trauma, injury, infection, neurological conditions, or complications from a medical condition like diabetes or arthritis.
Examples of acquired foot deformities include:
1. Hammertoe - A deformity where the toe bends downward at the middle joint, resembling a hammer.
2. Claw toe - A more severe form of hammertoe where the toe also curls under, forming a claw-like shape.
3. Mallet toe - A condition where the end joint of a toe is bent downward, causing it to resemble a mallet.
4. Bunions - A bony bump that forms on the inside of the foot at the big toe joint, often causing pain and difficulty wearing shoes.
5. Tailor's bunion (bunionette) - A similar condition to a bunion, but it occurs on the outside of the foot near the little toe joint.
6. Charcot foot - A severe deformity that can occur in people with diabetes or other neurological conditions, characterized by the collapse and dislocation of joints in the foot.
7. Cavus foot - A condition where the arch of the foot is excessively high, causing instability and increasing the risk of ankle injuries.
8. Flatfoot (pes planus) - A deformity where the arch of the foot collapses, leading to pain and difficulty walking.
9. Pronation deformities - Abnormal rotation or tilting of the foot, often causing instability and increasing the risk of injury.
Treatment for acquired foot deformities varies depending on the severity and underlying cause but may include orthotics, physical therapy, medication, or surgery.
In medical terms, a hand is the part of the human body that is attached to the forearm and consists of the carpus (wrist), metacarpus, and phalanges. It is made up of 27 bones, along with muscles, tendons, ligaments, and other soft tissues. The hand is a highly specialized organ that is capable of performing a wide range of complex movements and functions, including grasping, holding, manipulating objects, and communicating through gestures. It is also richly innervated with sensory receptors that provide information about touch, temperature, pain, and proprioception (the sense of the position and movement of body parts).
Ape hand deformity