Camptodactyly Syndrome, Guadalajara Type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. The numbers in the parentheses (1, 2, 3) are clickable links to peer-reviewed scientific papers. Other symptoms included unusual face, deformity of the spinal column, osteoporosis and a history of frequent fractures. The following resources can help: Caring for patients with a rare disease can require medical teams to search for hard-to-find information. PAF also has a National Financial Resource Directory that allows patients to find resources within a given state. Provides services to family caregivers of adults with physical and cognitive impairments. Services include assessment, care planning, direct care skills, wellness programs, respite services, and legal/financial consultation vouchers. Splinting and occupational therapy are necessary after surgery to prevent stiffness. Provides similar services as GARD only they will know more about the resources and medical specialists available in Canada. Fewer than 1,000 people in the U.S. have this disease. Trisomy X is a disorder that affects females and is characterized by the presence of an additional X chromosome. You may call 072 476 7552 or visit their website for assistance. Provides medical air transport services, free of charge, to individuals who need specialized medical care that is not available to them locally. Despite the name, the organization provides confidential support for people in all types of distress. deformity leading to functional impairment. "Watch the Video. Camptodactyly means your child has a bent finger that cannot completely straighten. Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. We would like to hear your feedback as we continue to refine this new version of the GARD website. Provides case management assistance for the uninsured or underinsured with life-threatening or debilitating illnesses. Offers support for any crisis via text, 24 hours a day/7 days a week. Would you like a second surgical opinion from a CHOP expert? The tips can help a doctor explain recent research advances clearly and accurately to their patients. Surgery is recommended if the finger is abnormally bent and is hampering the function of the hand. Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care. Please note the status of the fund for each individual disease may change throughout the year. It is normal for patients, their families, and caregivers to experience a variety of stresses that may change over time. Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the most common nonheritable causes of intellectual disability. Their service is available in French and English. But some children with camptodactyly have a family history of similar finger problems. It could also stem from the growth plate of the hand having an atypical shape, or the bones might be growing in an atypical direction. The following organizations can offer assistance directly or can help find other resources. Affecting less than 1 percent of the population, camptodactyly is most often found in the pinky finger and can occur in one or both hands. Surgical intervention is reserved for severe cases. Your experience may be different from others, and you should consult your primary care provider for more information. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3 . Healthy volunteers may also participate to help others and to contribute to moving science forward. There are two main types of clinical studies: People participate in clinical trials for a variety of reasons. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. [National Institute on Aging (NIA)], Finding and Evaluating Online Resources [National Center for Complementary and Integrative Health (NCCIH)], Using PubMed in Evidence-Based Practice Training Course [National Library of Medicine (NLM)], A Checklist for Communicating Science and Health Research to the Public [National Institutes of Health (NIH)], UMLSVocabulary Standards and Mappings Downloads, Access aggregated data from Orphanet at Orphadata, National Center for Biotechnology Information's, Newborn Screening Coding and Terminology Guide, Improving newborn screening laboratory test ordering and result reporting using health information exchange, Health Literacy Online: A Guide for Simplifying the User Experience, U.S. Department of Health & Human Services, National Center for Advancing Translation Sciences, Limited information about the disease and treatment, Adjustments to daily activities and roles, The medical team can develop a care plan and can make referrals, Family, friends, and religious leaders can provide support, Patient and caregiver organizations can help connect to others, Rare disease organizations have informational resources, Organizations can provide disability and financial support, Crisis support helplines can offer immediate assistance by phone. This section is currently in development. As you navigate supplemental care options, it is important you make informed health care decisions to ensure you receive the care you want and need. Patients living with a serious illness or entering the end stages of life may need specific additional support, known as palliative care or hospice care. Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Copyright 2023 Lineage Medical, Inc. All rights reserved. Mild camptodactyly rarely causes pain or problems with function, so surgery is not usually recommended. Patients must be U.S. citizens or permanent residents. Splinting or stretches can be used to resolve mild camptodactyly. In general, the SSI program provides monthly payments to adults and children with a disability or blindness who have income and resources below specific financial limits. Provides similar services as GARD only they will know more about the resources and medical specialists available in China. Currently GARD aims to provide the following information for this disease: Abnormally long and slender fingers ("spider fingers"). Avoid activities that require repetitive gripping, repeated grasping or the prolonged use of vibrating hand-held machinery until your symptoms improve. It is estimated to affect about 10 percent of the general population to varying degrees. Each of the flexor tendons passes through a tunnel in the palm and fingers that allows it to glide smoothly as the finger bends and straightens. You may call 06 4404773 or visit their website for assistance. Includes a section on knowing whether the information is news or an advertisement. If your child has a more severe case, it could slightly affect their hand function. In most cases, the condition does not cause pain or significantly affect the function of the hand. In general, to qualify for Social Security disability benefits, a person must have worked in jobs covered by Social Security and have a medical condition that meets Social Security's definition of disability. Keep in mind that coping with a rare diagnosis is a continual process and your needs may change over time. If your child had surgery, they will be examined at 2 weeks and 6 weeks post-operatively, then monitored regularly. To find the right clinical study we recommend you: ResearchMatch helps connect people interested in research studieswith researchers from top medical centers across the United States. Offers nearly 70 disease-specific assistance programs that help patients pay for their out-of-pocket costs, including deductibles, co-pays and coinsurance, health insurance premiums, and transportation expenses to get to treatment. You may call +98 (21) 66572937 or visit their website for assistance. Provides air transportation to and from medical facilities in the eastern United States for seriously ill and injured children and an accompanying adult. The middle joint of the finger does not work normally. Health care transitions are common between childhood and adulthood but can occur at any stage in life. Observation of the deformity is indicated when there are no functional limitations. Their services are provided in Farsi and English. Ongoing splinting at night is required to consolidate and maintain the range of extension while growing. Follow-up care for camptodactyly will depend on the treatment needed. Children and adults who have a rare disease and their caregivers are encouraged to talk about their needs with the medical team and to reach out for the support they require. Many rare diseases have limited information. Splinting or stretches can be used to resolve mild camptodactyly. Camptodactyly can be caused by abnormal structures in your childs finger. They build public awareness of the disease and are a driving force behind research to improve patients' lives. The course takes about 30 minutes to complete. You may call +64 4 385 1119 or visit their website for assistance. They build public awareness of the disease and are a driving force behind research to improve patients' lives. Trigger finger is a condition that affects one or more of the hands tendons, making it difficult to bend the affected finger or thumb. This section is currently under development as GARD works to supply you with resources on complementary care. In general, the SSI program provides monthly payments to adults and children with a disability or blindness who have income and resources below specific financial limits. It is normal for patients, their families, and caregivers to experience a variety of stresses that may change over time. Trismus-pseudocamptodactyly syndrome (TPS) is a rare inherited disorder characterized by short muscles and tendons that result in limited mobility of the hands, legs, and mouth. The middle finger is the penis and the curled fingers on either side are the testicles. Provides information about who qualifies for Social Security Supplemental Security Income (SSI) and links to more information including how to apply. very rare, only 29 cases have been documented in medical literature. Healthy volunteers may also participate to help others and to contribute to moving science forward. Provides information and resources and works with families of infants, toddlers, children, and youth with disabilities, birth to 26, helping parents participate effectively in their childrens education and development. Patients must be U.S. citizens or permanent residents. The resource is intended for doctors, other medical professionals, and researchers. Provides services to family caregivers of adults with physical and cognitive impairments. Learn about symptoms, cause, support, and research for a rare disease. Body parts: Pinky finger.