Doctor insights on:
Genetic blindness: This is an autosomal recessive disease (i.e., the patient inherits one defective gene from each parent), with progressive loss of vision and sometimes other neurologic problems. Carriers (one copy of the gene) may have some visual problems. There is no specific treatment, and my hope is that if you or someone you know is affected, good supportive care will be available. ...Read more
Sharpe Syndrome: Its another name for mixed connective tissue disease, an autoimmune disease with features of systemic lupus erythematosus, scleroderma, and polymyositis, sometime referred to as undifferentiated connective tissue disease. Individuals who have this condition are best served by a rheumatologist (an internist with subspecialty training in rheuamtology). ...Read more
Tumor family: This is a fairly common trait passed parent-to-child, 50% chance, in which certain tumors are substantially more common and there may be curious bumps especially on the skin. It is not curable but if good surveillance for tumors is maintained, it's manageable. Several genetic loci are known especially pten, and genetic counseling is available. ...Read more
Deadly process: First noted in the 60'sand peaking in the 70's, this is a pattern of acute liver failure, coma and often death. It often struck kids recovering from flu or chickenpox. Its cause is unclear, but an association with intake of any salicylate product was recognized. After salicylates were stopped for kids under 16, the condition has all but disappeared. ...Read moreSee 1 more doctor answer
Read: Horner's syndrome is the combination of drooping of the eyelid (ptosis) and constriction of the pupil (miosis), sometimes accompanied by decreased sweating of the face on the same side; redness of the conjunctiva of the eye is often also present. It indicates a problem with the sympathetic nervous system. ...Read moreSee 2 more doctor answers
Kallmann's syndrome is a genetic condition characterized by the failure to commence or complete puberty.
It causes hypogonadism (low level of circulating sex related hormones; testosterone in men and estrogen and Progesterone in women) and is accompanied by a total lack of the sense of smell (anosmia) or a heavily reduced sense of smell (hyposmia).
The diagnosis is made by a full endocrine eval. ...Read more
Birth defect: It is not a syndrome but an association of defects. It's not genetic. Also called VACTERL or VATER association. A person who has these has a birth defects (anomalies) in at least 3 of these areas: Vertebral, Anorectal, Cardiovascular, Tracheoesophageal fistula, Esophageal atresia, Renal and/or Radial anomalies, Limb defects. See this article: https://en. Wikipedia. Org/wiki/VACTERL_association ...Read more
No: Frey's syndrome is also called auriculotemporal nerve syndrome. This occurs after damage to this nerve in the face from trauma (birth trauma, gun shot, surgery, etc) and as the nerve "regrows" it goes to the surface rather than to the salivary gland. When a person eats something and salivates, the develop a red, non-itchy rash along the face where the nerve is. It's not familial. ...Read more
Ambras Syndrome: Ambras syndrome is a very rare type of hypertrichosis (excess hair) a congenital skin disease characterized by excessive hair growth on the entire body, with the exception of the palms, soles, and mucous membranes. Werewolf Syndrome. ...Read more
No short answer: Prevalent but underdiagnosed condition in which left common iliac vein deep in the pelvis is compressed by right common iliac artery. This is probably the reason left leg blood clots, potentially fatal, outnumber right leg clots. In addition to increasing clot risk, many patients have chronic left leg swelling for which nothing has been done There are right leg variants also. Treated by stenting. ...Read moreSee 1 more doctor answer