What does CLSS mean in SYNDROMES
CENANI LENZ SYNDACTYLY SYNDROME (CLSS) is a rare genetic disorder which occurs due to mutations in the WNT3 and RSPO2 genes. It is characterized by abnormalities of the bones and cartilage growth as well as webbing or extra digits in the hands and feet of an infant. CLSS can also be associated with other congenital anomalies such as facial dysmorphism, ear malformations, malformation of kidney, eye problems and mental retardation. This disorder is inherited in an autosomal recessive manner meaning that both parents must carry the pathogenic gene variant before birth. Treatment for this condition depends on the associated symptoms but may include surgery to correct skeletal abnormalities or physical therapy to improve motor skills.
CLSS meaning in Syndromes in Medical
CLSS mostly used in an acronym Syndromes in Category Medical that means CENANI LENZ SYNDACTYLY SYNDROME
Shorthand: CLSS,
Full Form: CENANI LENZ SYNDACTYLY SYNDROME
For more information of "CENANI LENZ SYNDACTYLY SYNDROME", see the section below.
What does CLSS stand for?
CLSS stands for CENANI LENZ SYNDACTYLY SYNDROME. It is a rare genetic disorder characterized by skeletal abnormalities and digit anomalies in the hands and feet of newborns. This condition can cause other clinical problems such as facial dysmorphism, ear deformities, mental retardation, kidney malformations and visual disturbances.
CLSS meaning in Medical
In medical terms, CLSS stands for CENANI LENZ SYNDACTYLY SYNDROME - a rare genetic disorder which affects bone growth and can be linked to other congenital anomalies such as facial dysmorphism, abnormal ears, mental retardation, kidney malformations or eye problems. The condition is inherited in an autosomal recessive pattern which means that both parents need to have the recessive copy of the mutated gene before birth for their child to develop this disorder. Treatment options are variable depending on severity of symptoms but may include corrective surgery, physical therapy or speech/occupational therapies.
Full form
The full form of CLSS is CENANI LENZ SYNDACTYLY SYNDROME - a rare genetic disorder caused by mutation in two specific genes WNT3 and RSPO2. It usually presents at birth with various signs including asymmetrical limb length or extra digits on either hands or feet along with possible developmental delays. The diagnosis is confirmed through genetic testing followed up with imaging tests such as MRI scans which help rule out any underlying structural problems like joint contractures or scoliosis. Treatment generally involves surgical correction followed up with physical therapy or other therapies aimed at improving overall patient quality of life.
Essential Questions and Answers on CENANI LENZ SYNDACTYLY SYNDROME in "MEDICAL»SYNDROMES"
What is Cenani Lenz Syndactyly Syndrome?
Cenani Lenz Syndactyly Syndrome (CLSS) is a rare disorder that affects the development of digits or fingers, usually in the hands and feet. The term “syndactyly” refers to webbed digits, and occurs when two or more of the fingers are fused together. CLSS is caused by mutations in the HOXD13 gene which affects finger and bone development.
What are some common signs and symptoms of Cenani Lenz Syndactyly Syndrome?
The most common features associated with CLSS include syndactyly, as well as fusion of other parts, including bones, muscles, skin folds, muscles, nails and dermatoglyphics patterns on the skin. Other symptoms can include contractures of the joints; curved toes or feet; nail abnormalities; dental anomalies; broad fingers; intellectual disability; and malformations of the face.
How is Cenani Lenz Syndactyly Syndrome diagnosed?
Diagnosis of CLSS is based on clinical evaluation which includes a detailed physical examination from a medical specialist who looks for associated features such as syndactyly. Genetic testing can be used to confirm diagnosis by detecting mutations in the HOXD13 gene.
What are potential complications associated with Cenani Lenz Syndactyly Syndrome?
Complications associated with CLSS may include joint contractures leading to impaired range of motion; deformities in other body parts including curved feet or toes; malformations of the face including cleft lip/palate; intellectual disability; problems with sucking or feeding in infants due to facial abnormalities and failure to thrive due to lack of nutrients taken in due to malformed mouth/teeth.
How can I identify potential comorbidities related to CLSS?
It is important for people affected by CLSS to be aware of any potential comorbid conditions such as cardiovascular disease (hypertension); musculoskeletal problems (lower limb motor function); respiratory issues (sleep apnea); hearing loss; vision impairment (cataracts); psychosocial issues (attention deficit hyperactivity disorder). In general it is important for those affected by this condition to get regular evaluations so that issues can be identified early on and treated accordingly.
Are there any treatments for Cenani Lenz Syndctyly Syndrome?
Currently there is no cure for CLSS but there are treatments available that aim at managing symptoms and helping improve quality-of-life. This could include physical therapy which will help improve muscle function and mobility along with surgery where necessary for separating fused digits or releasing contractures. Psychological support may also be beneficial for individuals suffering from mental health issues related to this condition.
Is there any support available if one has been diagnosed with Cenani Lenz Syndctyly Syndrome?
Yes! There are many organizations dedicated to providing resources for those affected by rare disorders such as CLSS. These organizations often provide information about support services available locally as well as online support groups where individuals can connect with others living with similar conditions. Additionally some organizations may provide financial assistance towards medical care costs depending on individual needs.
What kind of research has been conducted around Cenani Lenz Syndctyly Syndrome?
Much research has been conducted around this condition particularly regarding genetic mutations in regards to HOXD13 gene variants which cause syndactylies among other clinical findings seen with this syndrome. Many studies have looked closely at various aspects related to its diagnosis, pathogenesis etiology , genetics counseling , management strategies alongwith exploring psychological implications . Additionally further research continues in examining potential therapeutic interventions for this condition.
Are there any preventive measures that can be taken against Cenani Lens Syndctyly Syndrome?
: Since this condition is likely caused by genetic factors it cannot currently be prevented however parents should seek genetic counseling prior to planning any conception if they have a family history of this disorder.
Final Words:
CENANI LENZ SYNDACTYLY SYNDROME (CLSS) is a rare genetic disorder characterized by skeletal abnormalities along with digit anomalies in the hands and feet at birth which can also be associated with other congenital anomalies such as facial dysmorphology, deafness or cognitive impairment among others. Diagnosis usually requires a combination of genetic testing followed up with imaging studies to establish presence/absence of underlying musculoskeletal problems & its extent; while treatment usually involves corrective surgery if necessary followed up with physical / occupational / speech therapies aimed at providing lasting relief from symptoms & disability caused by this disorder.
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