Syndrome, cartilage hair hypoplasia
Cartilage hair hypoplasia syndrome.
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- Syndrome, cavernous sinus
A cavernous sinus thrombosis is a blood clot within the cavernous sinus, a large channel of venous blood in a cavity bordered by the sphenoid bone and the temporal bone of the skull. The cavernous sinus is an important structure because of its location and its contents which include the third cranial (oculomotor) nerve, the […]
- Syndrome, cerebrohepatorenal
A genetic disorder, which is also called the Zellweger syndrome, characterized by the reduction or absence of peroxisomes (cell structures that rid the body of toxic substances) in the cells of the liver, kidneys, and brain. Zellweger syndrome is one of a group of disorders called the leukodystrophies, all of which affect the myelin sheath, […]
- Syndrome, chromosome 4 short-arm deletion
This syndrome, called the Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears […]
- Syndrome, chromosome 4p-
The 4p- syndrome or Wolf-Hirschhorn syndrome, is a chromosome disorder due to partial deletion of the short (p) arm of chromosome 4. It is, therefore, also called the 4p- syndrome. Features of the syndrome include midline defects with a scalp defect, widespaced eyes, broad or beaked nose, oral facial clefts (cleft lip/palate); low simple ears […]
- Syndrome, Coffin-Lowry
An X-linked form of mental retardation in which the affected males have short stature and characteristic face, finger and skeletal abnormalities. Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth. The hands are large and soft with lax skin and tapering fingers. Skeletal changes include kyphosis/scoliosis and pectus […]