Spahr type metaphyseal chondrodysplasia is an extremely rare inherited disorder characterized by abnormal development of the cartilage and subsequent bone formation in the long bones of the arms and legs (metaphyseal chondrodysplasia), resulting in severely bowed legs and short stature (short-limbed dwarfism).

What is chondrodysplasia syndrome?

Spahr type metaphyseal chondrodysplasia is an extremely rare inherited disorder characterized by abnormal development of the cartilage and subsequent bone formation in the long bones of the arms and legs (metaphyseal chondrodysplasia), resulting in severely bowed legs and short stature (short-limbed dwarfism).

Is Chondrodysplasia Punctata a rare disease?

Rhizomelic chondrodysplasia punctata (RCDP) spectrum is a group of rare disorders that affect the function and structure of the peroxisomes.

What is Chondrodysplasia Punctata Type 2?

Summary. X-linked dominant chondrodysplasia punctata 2 (CDPX2), also known as Conradi-Hünermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature.

Is Chondrodysplasia Punctata dominant or recessive?

Rhizomelic chondrodysplasia punctata is an autosomal recessive condition caused by a peroxisomal disorder that appears as severe, symmetrical, predominantly rhizomelic limb shortening. The incidence is 1 in 110,000 births, and it is generally lethal before the second year of life.

Is Chondrodysplasia Punctata a form of dwarfism?

The term “chondrodysplasia” includes a number of conditions that are caused by changes in the genes. They’re often linked to dwarfism, which stunts the growth of many parts of the body, especially the bones. Doctors usually diagnose it in babies.

How common is Chondrodysplasia Punctata?

Frequency. The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected males have been reported in the scientific literature.

What is Rhizomelic Chondrodysplasia Punctata type1?

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.

What is Rhizomelic Chondrodysplasia?

Overview. Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia).

What is Rhizomelic Chondrodysplasia Punctata RCDP?

Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the bones in the upper arms and thighs (rhizomelia).