ACROMESOMELIC DYSPLASIA

Acromesomelic dysplasia is an extremely rare, inherited, progressive skeletal disorder that results in a particular form of short stature known as short-limb dwarfism. The disorder is characterized by acromelia and mesomelia. Mesomelia describes the shortening of the bones of the forearms and lower legs relative to the upper parts of those limbs. Acromelia is the shortening of the bones of the hands and feet. Thus, the short stature of affected individuals is the result of unusually short forearms and abnormal shortening of bones of the lower legs. The very short hands, fingers, feet, and toes are characteristic. These findings are apparent during the first years of life.

SIGNS & SYMPTOMS

Acromesomelic dysplasia (AMD) is characterized by inhibition of growth of certain long bones (i.e. bones of the forearms and lower legs). As a result, affected individuals exhibit unusually short forearms and lower legs and short stature (short-limbed dwarfism). These findings typically become apparent during the first years of life. Abnormal cartilage and bone development also affect other bones, particularly those of the hands and feet (i.e. metacarpals, phalanges, metatarsals).

Infants with acromesomelic dysplasia often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively enlarged head (macrocephaly), unusually prominent forehead (frontal bossing), and pronounced back portion of the head (occipital prominence); a slightly flattened midface; and/or an abnormally small, pug nose.

During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limbed dwarfism) begins to become apparent. Due to abnormal development and premature fusion (ossification) of the growth portions and the shafts of the long bones of the arm, the bones on the outer aspect and the thumb side of the forearm (ulna and radius, respectively) may be markedly shortened (hypoplastic) and abnormally curved. In addition, the end portion of the radius (that normally meets with the bone of the upper arm [humerus] to form part of the elbow joint) may be completely or partially dislocated (subluxation). This is known as Madelung deformity. As a result, affected individuals may be unable to fully extend their arms, rotate the arms so the palms face down (pronation), or rotate their arms so the palms face upward (supination). Some affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis).

The hands and feet appear unusually short and broad at birth. Because the abnormalities of cartilage and bone development in the hands and feet are also progressive, the bones within the fingers and toes (phalanges), as well as in the body of the hands (metacarpals) and feet (metatarsals), become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones (epiphyses) may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. Thus, the fingers and toes appear short and stubby (brachydactyly); the hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In many individuals, the great toes may appear relatively large in comparison to the other toes. In addition, the fingernails and toenails may also appear abnormally short and broad, though they are otherwise normal. In early childhood, extra, loose (redundant) skin may develop over the fingers.

During early childhood, individuals with AMD may also begin to demonstrate abnormalities of bones of the spinal column (vertebrae) and to experience progressive, abnormal curvature of the spine. Affected children may demonstrate unusual front-to-back curvature of the central portion of the spine (low thoracic kyphosis) and/or abnormally exaggerated inward curvature of the lower spine (lumbar hyperlordosis).

HOMOEOPATHIC APPROACH

Homoeopathy today is a rapidly growing system and is being practiced all over the world. It strength lies in its evident effectiveness as it takes a holistic approach towards the sick individual through promotion of inner balance at mental, emotional, spiritual and physical levels. When is concerned there are many effective medicines available in Homoeopathy, but the selection depends upon the individuality of the patient, considering mental and physical symptoms

Few homoeopathic medicine can be thought of in the management of Acromesomelic dysplasia are:

silicea, calcarea phos, baryta carb., NATRUM mur, etc.