Sirenomelia

Sirenomelia, alternatively known as Mermaid Syndrome, is a very rare congenital deformity in which the legs are fused together, giving them the appearance of a mermaid’s tail. This condition is found in approximately one out of every 80,000 live births (about as rare as conjoined twins) and is usually fatal within a day or two … Read more

Achondroplasia

Achondroplasia is a genetic disorder of bone growth that results in abnormally short stature and is the most common cause of dwarfism ie short stature with disproportionately short limbs. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4 inches) in males and 124 cm (49 inches, or … Read more

Acromegaly

Acromegaly is a chronic metabolic disorder caused by abnormal production of growth hormone after the skeleton and other organs finish growing. It most commonly affects adults in middle age, and can result in severe disfigurement, serious complicating conditions, and premature death if unchecked  Causes Acromegaly is a syndrome that results when the anterior pituitary gland … Read more

Gigantism

Gigantism is abnormally large growth due to an excess of growth hormone during childhood, before the bone growth plates have closed. Causes The most common cause of too much growth hormone release is a noncancerous (benign) tumor of the pituitary gland. Other causes include: Carney complex McCune-Albright syndrome (MAS) Multiple endocrine neoplasia type 1 (MEN-1) … Read more

Cephalic Disorders

Cephalic disorders are congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic is a term that means “head” or “head end of the body.” Congenital means the disorder is present at, and usually before, birth. Although there are many congenital developmental disorders, this fact sheet briefly describes only … Read more

Conjoined twins

Conjoined twins (also known as Siamese twins) are a pair of identical twins born with part of their body joined together, sharing tissue which ranges from a band of flesh to major organs. Cause Identical twins develop when a single fertilized egg, also known as a monozygote, splits during the first two weeks of conception. … Read more

Hypertrichosis

Hypertrichosis (also called Ambras Syndrome or werewolf syndrome) is an abnormal amount of hair growth on the body. There are two distinct types of hypertrichosis: generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis and hirsutism, which are restricted to a certain area.  Symptoms The excess growth of hair occurs in areas of … Read more