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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Peroxisome condrodisplaxia disorder 5A Zellweger. The following situations should be considered in the differential diagnosis of CDP: On the cranial MR investigation, both lateral ventricles and the third ventricle were found to be larger than normal and there was atrophy in the left temporal lobe.

OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. Peroxisome biogenesis disorder 8B. She did not have any chronic disease and there was no history of exposure to any known embryopathic agents and, in particular, no warfarin therapy or alcohol use had been given.

Because neuroimaging can provide prognostic information, it rizomlida important to look for cervical stenosis in these patients. Peroxisome biogenesis disorder 10B.

Case Reports in Medicine

Ein Beitrag zum Problem der Chondrodystrophia calcificans congenita. RCDP5 is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 PEX5; on chromosome 12p The other 2 did not complement; this may indicate that they are caused by allelic mutations, or contrariwise they may be nonallelic but perhaps ‘complementation cannot occur after fusion because of the absence of preexisting peroxisomes’ Wanders et al.


Spinal stenosis is a frequent sign of bone dysplasia, while it is rarely reported in rhizomelic CDP cases [ 11 — 13 ]. Because patients with RCDP often demonstrate upper and lower extremity spasticity in the absence of spinal cord involvement, diagnosis cndrodisplasia cervical spinal stenosis secondary to RCDP may be difficult.

Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice.

In 57 cases the CDP was of the mild type, including rizojlica cases due to phenytoin exposure during pregnancy and 3 cases due to Warfarin embryopathy. Functionally, conduction velocity of myelinated axons in the corpus callosum was significantly reduced. The cerebellum of these mice demonstrated defects in foliation patterning and delay in precursor granule cell condrodisplasoa and defects in myelination and concomitant reduction in the level of myelin basic protein.

The growth curves were stratified by age as well as by plasmalogen level, with those with higher plasmalogen levels grouped as ‘non-classic. Phenotypic Series Toggle Dropdown. Rhizomelic chondrodysplasia punctata in an infant with del 4 p14p So, our patient was described as mildly affected.

Condrodislpasia suggested that this represents a distinct form of chondrodysplasia punctata which might be called the humerometacarpal HM type.

rhizomelic chondrodysplasia punctata type 1

Expert curators review the literature and organize it to facilitate your work. Genetic disorderorganelle: The prognosis for a child with the classic form of RCDP1 is poor.

The 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. The mother had two miscarriages, as well as a baby with skeletal abnormalities who was aborted at 22 gestational weeks and a healthy male child. In the skeletal survey performed, there were proximal shortness, thick and short diaphyses, and large and irregular metaphyses in the long bones and normal fingers.


Breathing problems are often the cause of death. Summary and related texts. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. In Australia this feature led to the designation koala bear syndrome Danks, Other search option s Alphabetical list.

Orphanet: Rhizomelic chondrodysplasia punctata

Thus, care must be taken in diagnosing an infant or child presenting with punctate calcifications Spranger et al. Peroxisome biogenesis disorder 14B.

The patient died at 6 months after a course complicated by frequent infections. Happle suggested that cataracts are consistently absent in the autosomal dominant form of chondrodysplasia punctata and present in about two-thirds of the rhizomelic and X-linked dominant forms. In 21 cases Conradi-Hunermann CDP was diagnosed but difficulties in defining this subcategory were evident. Only comments seeking to improve the quality and accuracy of information on the Orphanet website conrdodisplasia accepted.

Some have shortened limbs while others do not. But our patient who had cervical stenosis still has no neurological findings.