Acromesomelic Dysplasia
Acromesomelic Dysplasia is an
extremely rare inherited progressive disorder characterized by premature fusion
of the regions (metaphyses) where the shafts (diaphyses) of certain long bones
(i.e., bones of the arms and legs) meet their growing ends (epiphyses). As a
result, affected individuals exhibit unusually short forearms, abnormal
shortening of bones of the lower (distal) legs, and short stature (short-limbed
dwarfism), findings that typically become apparent during the first years of
life. Abnormal cartilage and bone development may also affect other bones of the
body, particularly those of the hands and feet (i.e., metacarpals, phalanges,
metatarsals). At birth, the hands and feet may appear abnormally short and
broad. Over time, the apparent disproportion becomes even more obvious,
especially during the first years of life. The fingernails and toenails may also
appear unusually short and wide.
Affected individuals may have additional abnormalities resulting from abnormal
cartilage and bone development, including limited extension of the elbows and
arms and/or progressive abnormal curvature of the spine. Other characteristic
abnormalities include a relatively enlarged head (macrocephaly), slightly
flattened midface, and/or small, pug nose. Acromesomelic Dysplasia is inherited
as an autosomal recessive genetic trait.
.Relatively recent clinical studies have demonstrated that there are at least
two forms that are distinguishable by X-ray and at the molecular level. The
Maroteaux Type has been traced to chromosome 9 (Gene Map Locus 9p13-p12). The
Hunter-Thompson Type has been mapped to chromosome 20 (20q11.2).
|
Remedy |
Characteristics Symptoms |
Patient Worse by |
Patient Better by |
| Baryta Carbonicum | Specially indicated in infancy and old age This remedy brings aid to scrofulous children, especially if they are backward mentally and physically, are dwarfish, do not grow and develop, have scrofulous ophthalmia, swollen abdomen, take cold easily, and then always have swollen tonsils Diseases of old men when degenerative changes begin;-cardiac vascular and cerebral Very sensitive to cold Offensive foot-sweats Very weak and weary, must sit or lie down or lean on something Very averse to meeting strangers Hungry, but refuses food Constipation, with hard, knotty stools Diminished desire and premature impotence Menses scanty Talking in sleep; awakens frequently; feels too hot Twitching during sleep |
While thinking of symptoms From washing Lying on painful side After warm food |
Walking in open air |
| Calcarea Phosphoricum | Anĉmic children who are peevish, flabby, have
cold extremities and feeble digestion. Has a special affinity where bones form sutures or symphyses Numbness and crawling Tendency to perspiration Craving for bacon, ham, salted or smoked meats Much flatulence Great hunger with thirst flatulence temporarily relieved by sour eructations Heartburn Leucorrha, like white of egg Weary when going upstairs |
Exposure to damp, cold weather Melting snow From any change of weather. |
In summer Warm, dry atmosphere |
| Sulphur | Ebullitions of heat, dislike of water, dry and
hard hair and skin, red orifices, sinking feeling at stomach about 11 am,
and cat-nap sleep; Aversion to being washed When carefully-selected remedies fail to act, especially in acute disease Complaints that relapse General offensive character of discharge and exhalations Very red lips and face, flushing easily Often great use in beginning the treatment of chronic cases and in finishing acute ones Complete loss of, or excessive appetite Putrid eructation Food tastes too salty Drinks much, eats little Milk disagrees Great desire for sweets Great acidity, sour eructation. Water fills the patient up Must hurry, sudden call to urinate Great quantities of colorless urine. Menses too late, short, scanty, and difficult; thick, black, acrid, making parts sore Leucorrha, burning, excoriating Talks, jerks, and twitches during sleep Vivid dreams Wakes up singing Wakes frequently, and becomes wide awake suddenly Catnaps; slightest noise awakens Cannot sleep between 2 an 5 am |
At rest When standing Warmth in bed Washing Bathing In morning 11 am Night From alcoholic stimulants Periodically |
Dry, warm weather Lying on right side From drawing up affected limbs |
| Baryta Muriaticum | |||
| Calcarea Carbonica | |||
| Carboneum Sulphuratum | |||
| Med | |||
| Ol J | |||
| Silicea | |||
| Iodatum | |||
| Lycopodium | |||
| Mercurius | |||
| Secale | |||
| Zincum Metallicum |