“Osteochondrodysplasias”  

Osteochondrodysplasia

  In our body, the developmental dis-orders of Osteochondrodysplasias are a heterogeneous group of skeletal dysplasias caused by impaired development of chondro-osseous tissue, involving an abnormal development of both cartilage and bone.

  While in our mother's body, Osteochondrodysplasias differ from dysostoses that usually present at a earlier development stage (blastogenesis period).
  Examples of conditions that involve an osteochondrodysplasia:

• multiple epiphyseal dysplasia
• osteochondroma
  • osteochondromatosis
    • multiple hereditary exostosis

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“Enchondromatosis (Ollier Disease)”  

Enchondromatosis (Multiple Enchondrosis)

  In our body's bones, the congenital abnormality, Enchondromatosis is an osteochondrodysplasia of benign cartilage growths in the metaphyses of several bones, caused by a mutation of the PTH1R gene.

Multiple Enchondrosis

  In our body, the skeletal dis-order, Enchondromatosis (benign) is a bone dis-order, indicative to a specific set of signs, symptoms or other health indicators, associated with a multiple enchondromas. **

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“Cleidocranial Dysplasia (Cleidocranial Dysostosis)”  

Cleidocranial Dysplasia

  In our body, Cleidocranial Dysplasia (Cleidocranial Dysostosis), a hereditary congenital osteochondrodysplasia, in which there is a defective ossification of the cranial bones with large fontanels and delayed closing of the sutures, complete or partial absence of the clavicles, wide pubic symphysis, short middle phalanges of the fifth fingers, and dental and vertebral anomalies, due to haploinsufficiency caused by mutations in the RUNX2 gene (CBFA1 gene) located on the short arm of chromosome 6 (6p21 postion).
  In our body, the craniofacial abnormality, Cleidocranial Dysplasia is the allopathic name, indicative to a specific set of signs, symptoms or other health indicators, associated with a rare autosomal dominant health challenge. **

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“Thanatophoric Dysplasia (Dwarfism Thanatophoric)”  

Dwarfism Thanatophoric

  In and from our mother's womb, the osteochondrodysplasic infant dis-order, Thanatophoric Dysplasia (Dwarfism Thanatophoric) is a severe musculoskeletal developmental bone issue of a neonatal dwarfism with very short congenitally formed limbs, associated with a health challenge that may be caused by a mutation in the alpha-1 type II collagen gene (COL2A1 gene on chromosome 12q13. **

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“Hyperostosis Frontalis Internal (Morgagni-Stewart-Morel Syndrome)”  

Hyperostosis Frontalis Internal

  In our body's frontal region of the skull, the osteochondrodysplasia with hypertrichosis dis-order, Hyperostosis Frontalis Internal is a new formation of bone tissue on the internal surface of the cranial bones, indicative to a specific set of signs, symptoms or other health indicators, associated with a thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. **

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“Cherubism”  

  In our body's head, the rare genetic dis-order, Cherubism is a craniofacial abnormality indicative to a specific set of signs, symptoms or other health indicators, associated with a fibrous dysplasia of bone causing a prominence in the lower portion in the face.
  In our body's head, Cherubism, an autosomal dominant inherited jaw dis-order, is a fibro-osseous dis-order involving swollen jaws and raised eyes giving the characteristic cherubic appearance, often with a mutation in the SH3BP2 gene. **

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“Pycnodysostosis”  

  In our body, the metabolic lysosomal storage dis-order, Pycnodysostosis is a metabolic inborn error, sometimes as a genetic metabolic error, indicative to a specific set of signs, symptoms or other health indicators, associated with an osteochondrodysplasia caused by mutation in the extracellular matrix protein 1 gene (ECM1 gene). **

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“Schwartz-Jampel Syndrome”  

  In our body, the dis-ease, Schwartz-Jampel Syndrome is the allopathic name, indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge. **

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