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Ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome Causes

The cause of AMS is still not known but a few of the medical cases of this syndrome suggest that it can be inherited as an autosomal trait of the recessive gene.

Ablepharon macrostomia syndrome Definition

Ablepharon macrostomia syndrome or AMS is a very uncommon genetic disorder that can be inherited. This syndrome is characterized by various physical defects which usually affect areas of the face, fingers, skin, and the genitalia (penis symptoms and some defects on the testes). Patients of AMS could also have other malformations on their abdominal walls or on their nipples. Other traits include having underdeveloped eyelids (or Ablepharon); the absence of eyebrows and eyelashes; mouths that look like that of a fish's (also known as Macrostomia); cracked skin; ears that appear to be low-set (also known as pinnae). The eye defects could appear due to ablepharon. Some people with AMS could also have very thin or sparse hair (alopecia); their skin appears to be wrinkled, dry, coarse, or thick; their fingers could also be webbed and with inadequate extension; the genitalia could have external malformations. In very few cases of Ablepharon macrostomia syndrome, the patient could have little or no nipples at all (having small nipples is known as hypoplastic nipples). One of the worst characteristics could be the protrusion of some parts of the large intestine through a dilated portion of the abdominal wall (this condition is called ventral or abdominal hernia). Infants and children who suffer from AMS may have some delays on the development of their language skills. Some of them may manifest signs of mild retardation of the mind while others may grow up to be normal. A disorder that appears to have the same features as Ablepharon macrostomia syndrome is the Barber-say syndrome. The latter is characterized by laxity of the skin; ablepharon; hypertelorism, macrostomia, telecanthus, acute hirsutism, and helix agenesis of the pair of ears. Less common signs of AMS include undescended testes and hernia on the umbilicus.

Ablepharon macrostomia syndrome Prevalence

The National Institute of Health has classified AMS as a very rare disease which means it has affected less than 200,000 of the American population.

Ablepharon macrostomia syndrome Treatment

AMS patients could undergo several treatments such as speech, physical and occupational therapies. Some severe cases of AMS need daily therapies which help them cope with their circumstance. Those who suffer from hernia could also undergo surgical procedures to correct their condition.

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