What is Chondrodysplasia Punctata ?
Chondrodysplasia Punctata is a hereditary disorder that affects infants and young children. It is a skeletel abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Symptoms include growth retardation, shortening of limbs, cataracts, dry and scaly skin (Ichthyosis), large skin pores and patches of coarse, dry hair. Patients may also become mildly retarded. Different forms of Chondrodysplasia Punctata exist, the most common of which is inherited as an autosomal recessive trait. Chondrodysplasia Punctata may also be inherited in a dominant and recessive X-linked fashion . X-linked dominant form, also known as Conradi-Hunermann Syndrome, is lethal to males in early gestation. Females affected with this form show similar symptoms as those listed above. The X-linked recessive form of Chondrodysplasia Punctata affects both males and females, although females may have less pronounced symptoms.

Couples with a familial history of Chondrodysplasia Punctata should seek genetic counseling. A thorough genetic and pedigree analysis by an experienced genetic counselor is strongly recommended to determine the form of Chondrodysplasia Punctata that occurs in their family. A new test called Preimplantation Genetic Diagnosis (PGD) may be of benefit to those with an X-linked form of Chondrodysplasia Punctata. PGD tests for genetic abnormalities and determines the gender in an embryo prior to implantation. PGD can help in reducing the chances of having an affected child. PGD is currently available for a number of genetic disorders and X-linked diseases. PGD is continually being improved so hopefully someday, it may test for all forms of Chondrodysplasia Punctata and other genetic diseases.

 

  Dismorphic ears, coarse facial features small lower jaw and scanty hair are evident

  Deformed upper limb

  Deformed lower limbs

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