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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Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia. Other symptoms that may be seen include rough and scaly skin, a cleft palate, and malformations of the spinal column. Condrodisp,asia calcificans congenita dysplasia epiphysialis punctata: Chondrodysplasia punctata rhizomelic type: The cerebellum of these mice demonstrated defects in foliation patterning and delay in precursor granule cell migration and defects in myelination and concomitant reduction in the level of myelin basic protein.

Facial anomalies with left cleft lip and bilateral cleft palate were present. Bilateral nuclear cataract was seen on the ophthalmological examination. Two cases appeared to represent an X-linked dominant form.


Those with milder forms of the disease may live longer, however there have been relatively few known cases with riizomlica to determine average longevity.

The affected individuals have low levels of plasmalogens. Peroxisome biogenesis disorder 6B. Rhizomelic chondrodysplasia punctata, type 2. RCDP5 is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 PEX5; on chromosome 12p Infobox medical condition new CS1 maint: Phenotypic Series Toggle Dropdown.

Three biochemical abnormalities appear to be distinctive of the peroxisome abnormality of RCDP: A number sign is used with this entry because condrorisplasia evidence that rhizomelic chondrodysplasia punctata type 1 RCDP1 is caused by homozygous or compound heterozygous mutation in the PEX7 genewhich encodes the peroxisomal type 2 targeting signal PTS2 receptor, on chromosome 6q Because of underlying vertebral abnormalities, spinal stenosis, often seen together with brachytelephalangic chondrodysplasia punctata, can cause progressive neurological findings.


Most patients die in the first decade of life. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP. Prognosis Rhizomelic chondrodysplasia has a severe prognosis with death generally occurring during the first decade of life, mainly due to respiratory complications. Peroxisome biogenesis disorder 2B. Those with milder forms of the disease may benefit from a specialized diet.

Orphanet: Rhizomelic chondrodysplasia punctata

Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. At 4 years of age her tone had improved and rixomlica had made developmental progress, although she had moderate delay. Peroxisome biogenesis disorder 6A Zellweger. Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum. It was the suggestion of a group convened in Paris by the European Society of Pediatric Radiology that this phenotype be called chondrodysplasia punctata Maroteaux, Introduction Rhizomelic chondrodysplasia punctata RCDP is a rare pucntata of peroxisomal metabolism, with an estimated incidence 1: Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata–a complementation study.

Rhizomelic chondrodysplasia punctata

Retrieved 16 January Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. Peroxisome biogenesis disorder 7B. Trisomy of chromosomes and Clinical description Rhizomelic chondrodysplasia is associated with shortness of the femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit.

Melnick observed a child with punctate calcifications in the offspring of a father-daughter mating. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor. The electroretinogram was grossly abnormal. Heterogeneity of chondrodysplasia punctata.


Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. A fusion of fibroblasts from these 9 patients with Zellweger fibroblasts condrodisplassia in complementation as indicated by restoration of DHAP-AT activity, plasmalogen biosynthesis, and punctate fluorescence after staining with a monoclonal antibody to peroxisomal thiolase.

Blood amino acid and urinary organic acid levels were unremarkable, and anti-DNA and ANA tests of her mother revealed negative results. Fewer than 1 ininfants worldwide is affected by RCDP1.

In addition, the gap junctional protein connexin GJA1;known to be recruited to LRMs and essential for lens development and spermatogenesis, was downregulated in rizoomlica fibroblasts of the ether lipid-deficient mice.

Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones i. Osteochondroma osteochondromatosis Hereditary multiple exostoses.

Case Reports in Medicine

In Australia this feature led to the designation koala bear syndrome Danks, The patient had pulmonary stenosis and atrial septal defect. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. There was no history of maternal drug or alcohol use and no symptoms or positive laboratory test that indicated autoimmunological disease in the mother.

Condrodispoasia clinical findings were less severe than those seen in classic rhizomelic chondrodysplasia punctata and were notable for short stature, microcataracts, normal limbs, mild hypotonia, and severe mental retardation.