Dwarfism
| Definition: |
The condition of being undersized as a result of premature arrest of skeletal growth. It may be caused by insufficient secretion of growth hormone (DWARFISM, PITUITARY). |
| Notes: |
X ref MULIBREY NANISM: spell in titles & translations with lowercase m: mulibrey (stands for MUscle, LIver, BRain, EYes) |
| Also Called: |
Mulibrey Nanism |
Dwarfism Categories.
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Achondroplasia - An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001) |
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Cockayne Syndrome - An inherited syndrome phenotypically characterized by unusual facies (large ears and sunken eyes), growth failure, intellectual deterioration, loss of subcutaneous fat, pigmentary retinal degeneration, neural deafness, dwarfism, photosensitivity, optic atrophy, peripheral neuropathy, and cataracts. Pathologic examination reveals a patchy loss of central myelin and white matter atrophy. Cockayne syndrome may be divided into two or more distinct genetic subtypes. (Menkes, Textbook of Child Neurology, 5th ed, p197) |
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Cretinism - A condition due to congenital lack of thyroid hormone, marked by arrested physical and mental development, dystrophy of the bones and soft parts, and lowered basal metabolism. It is the congenital form of thyroid deficiency, while MYXEDEMA is the acquired form. (From Dorland, 27th ed) |
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Dwarfism, Pituitary - A form of dwarfism due to deficient release of GROWTH HORMONE which may result from dysfunction of the hypothalamus or anterior pituitary gland. |
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Thanatophoric Dysplasia - A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or in the neonatal period. |
Dwarfism Definitions and Terms
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