Gerodermia osteodysplastica is an extremely rare autosomal recessive connective tissue disorder that is within the classification of the cutis laxa syndrome

Gerodermia osteodysplastica is an extremely rare autosomal recessive connective tissue disorder that is within the classification of the cutis laxa syndrome. This disease in which the person has physical symptoms have deformities in skin, muscle tissue and bones. The dwarfism delays the progression of bones developing from skull to spine and one’s limbs

This disorder has many variations of names, for example, geroderma osteodysplasticum, Walt Disney Syndrome and progeria. The most common term is Progeria but we’ll used Gerodermia Osteoplastica (GO) for now.

Etiology

Autosomal Recessive chromosomes are simply sex-chromosomes that carry a recessive trait.

This disorder is assumed to be linked to a sex-linked gene, causing wrinkling of skin and osteoporosis (known as brittle bones). As well as several other genetic mutations.

Symptoms

The American Journal of Medical Genetics Diagnosed three Mexican brothers.(ages 6, 7, 8) These male patients were concluded to had symptoms of “distinct facial appearance with sagging cheeks, premature wrinkling of the skin of face, abdomen, and dorsum of hands and feet; malocelusion, span greater than height; hyperextensibility; winging of the scapulae; stooped posture with kyphoscoliosis; protuberant abdomen; and pes planus. Radiologically they had generalized osteoporosis, platyspondily due to multiple compression fractures, pseudoepiphyses of second metacarpals, and dislocated hips.” (AJMGD)

Symptoms of GO include Retarded fetal growth, Congenital hip dislocation, Winged shoulder blades, Fallen arches, Malocclusion, Close-set eyes, Malformed ears, Developmental delay, Failure to thrive, EEG abnormalities, Elastic skin, Loose wrinkly skin, Hyperextensible joints, Abnormal bone calcification, Osteopenia, Osteoporosis, Fractures, Poor muscle tone, Vertebral abnormalities, Flattened spinal vertebrae, Thin skin, Short stature, Underdeveloped cheek bones, Underdeveloped upper jaw, Protruding lower jaw, Bowed long bones, Kyphosis, Scoliosis, Hunched back, Prematurely aged facial appearance, Droopy facial appearance

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The body overdeveloped. They appear to age rapidly dude to having similar symptoms to the elderly. Although, unlike the elderly, their body weight is so light that they are unable to withstand holding too much weight.

Treatment

(GO) lacked treatment procedures due to it being a rare disease. There were not enough sufficient patient information nor were there known knowledge of these symptoms at birth. The treatment available is to reduce and pain, discomfort and reduce the process of aging. These treatments include add metal to the long bones, using bone lengthening hormones as well as growth hormones.

When adding any metal staples, the doctors intent is to help get the body into the regular state of having an erect posture. The doctors improve the posture by “….inserting rods or staples to help correct spine shape, and increasing the size the bone opening of the spine in order to alleviate spinal cord pressure”(CHD)

Conclusion

In conclusion, Gerodermia is a physical mutation with several symptoms. From being a Although there are various medical risks with this disease, there have been several patients this condition ready to fight for their life and help those in the future find a cure.