Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia). A number sign (#) is used with this entry because of evidence that rhizomelic chondrodysplasia punctata type 1 (RCDP1) is caused by homozygous or. Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts.
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rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 1 RCDP1 is an inherited disease that causes small physical size, certain characteristic bone problems, mental disability, and cataracts. Most children with the classic form of RCDP1 do not live beyond the age of 10, and some will die in infancy.
There is also a mild form of the disease, dondrodisplasia it is less common.
Children with the classic form of RCDP1 typically have shortened arm and leg bones. They are often born smaller than average and fail to grow at the expected rate, leaving them much smaller than normal children. The cartilage in children with RCDP1 typically has round or condrodispplasia areas of calcification. Affected children have stiff, painful joints which may lose the ability to bend normally. They will also have characteristic facial features.
Children with this disease are often severely mentally disabled and fail to develop skills beyond the level of a normal six month-old. The majority also develop seizures. Other symptoms that may be seen include rough and scaly skin, a cleft palate, and malformations of the spinal column.
These children usually develop cataracts early in life that obscure their vision.
Most have recurrent lung infections which can be life-threatening. In the mild form of the disease, mental and growth disability are less severe. Some have shortened limbs while others do punctxta. All children with this form of the disease have areas of calcification in their cartilage and cataracts.
OMIM Entry – # – RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
Fewer than 1 ininfants worldwide is affected by RCDP1. The disease affects children convrodisplasia every ethnicity, however one common mutation known as LX is most common in Caucasians of Northern European descent. There is no cure for RCDP1. Surgery to remove cataracts can restore some vision. Physical therapy may help preserve movement.
Case Reports in Medicine
Other bone surgery may also be helpful. Many children with the disease require a feeding tube. Their lung function must be closely monitored to avoid infection and choking hazards. The prognosis for a child with the classic form of RCDP1 is poor. Many die in the first or second year of life, and few survive beyond the age of Breathing problems are often the cause of death. Those with milder forms of the disease may live longer, however there have been relatively few known cases with which to determine average longevity.
Back To Disease List. Mild Form In the mild form of the disease, mental and growth disability are less severe. How common is Rhizomelic Chondrodysplasia Punctata Type 1?
How is Rhizomelic Chondrodysplasia Punctata Type 1 treated? Those with milder forms of the disease may benefit from a specialized diet. What is the prognosis for a person with Rhizomelic Chondrodysplasia Punctata Type 1? Counsyl provides the following resources in select languages: