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Many people with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes. The Steinberg sign, also known as the thumb sign, is one of the clinical examination tests for Marfan disease in the hands.
The affected gene, known as lamin A (LMNA), makes a protein necessary for holding the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. Progeroid syndromes are a group of diseases that cause individuals to age faster than usual, leading to them appearing older than they actually are.
The classic symptoms of untreated coeliac disease include diarrhea, steatorrhoea, iron-deficiency anemia, and weight loss or failure to gain weight. Other common symptoms may be subtle or primarily occur in organs other than the bowel itself. [ 34 ]
Emaciation manifests physically as thin limbs, pronounced and protruding bones, sunken eyes, dry skin, thinning hair, a bloated stomach, and a dry or coated tongue in humans. Emaciation is often accompanied by halitosis , hyponatremia , hypokalemia , anemia , improper function of lymph and the lymphatic system , and pleurisy and edema .
Lipedema / Dercum's disease differentiation – these conditions may co-exist. Dercum's disease is a syndrome of painful growths in subcutaneous fat. Unlike lipedema, which occurs primarily in the trunk and legs, the fatty growths can occur anywhere on the body. [20] [21]
The thin, transparent skin shows more blood vessels when there is insufficient adipose tissue. Progeria is the term for the appearance of premature aging in persons with the illness, who appear much older than their actual age.
PARGC1A gene key to weight loss. At the study’s conclusion, researchers found that participants in the exercise group who had the most “skinny genes” lost up to 5 kg (about 11 lbs) during ...
The predominant clinical symptoms of wrinkly skin syndrome are wrinkled and inelastic skin over the face, backs of hands/fingers, tops of feet, and abdomen; delayed closure of the fontanelle (baby's soft spot), and increased palmar and plantar creases in the hands and feet, respectively.