Sufferers usually have long, thinfingers and toes with contractures preventing straightening and limiting movement. … Abnormally long, slender fingers and toes (arachnodactyly) are another typical findings in such patients. … Affected patients are usually tall with long limbs and possess a Marfan-like habitus.
Generally, VFCS requires a long-term multidisciplinary management approach involving a team comprising clinical psychologist, geneticist, genetic counsellor, physical therapist … geneticists, genetic counsellors, heart surgeons, ear, nose and throat specialists, plastic surgeons, and physical and speech therapists - all work in concert for a very long … 
People with Marfan tend to be tall, and thin, with long arms, legs, fingers and toes. … A positive wrist sign is where the little finger and the thumb overlap, caused by a combination of thin wrists and longfingers. … Many individuals with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and longfingers and toes.
Multiple endocrine neoplasia type 2B is a rare disorder in which aggressive medullary thyroid cancer, pheochromocytoma may lead to life-threatening blood pressure changes, and mucosal neuromas are included in the clinical presentation. The majority of patients develop symptoms by the first few years of age. Through…
Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited cholestatic conditions that develop as a result of impaired bile secretion. It manifests in infancy or childhood and can progress to failure to thrive or even advanced liver disease. Severe cases often require liver transplantation.
This procedure is performed through the insertion of a thin tube in the stomach, where nutritious materials and medications are directly deposited. … Furthermore, life-long treatment may also prevent complications that involve other organs in different stages of the disease. … discovery of new pathogenic mechanisms and the development of an animal model of the disease may open possibilities for the development of new treatment modalities to improve long-term …