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Rhizomelic Chondrodysplasia Punctata Type 1

RCDP


Presentation

  • In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.[ncbi.nlm.nih.gov]
  • Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.[jhu.pure.elsevier.com]
  • Life expectancy is considerably reduced. [1] [2] Prevalence Estimated 1 in 100,000; RCDP 1 is most common subtype. [1] Characteristics/Clinical Presentation These patients present with severe and symmetrical shortening of the proximal long bones (rhizomelia[physio-pedia.com]
Poor Feeding
  • Prevention of Secondary Complications Poor feeding and recurrent aspiration necessitate the placement of a gastrostomy tube. Note: Improved nutrition does not enhance linear growth.[ncbi.nlm.nih.gov]
Rigor
  • Throughout, the approach of OTM is humane and ethical and, at the same time, factual, reliable, honest(especially where knowledge is limited) and rigorously scientific. This is not just a textbook of "First World" medicine.[books.google.com]
Aspiration
  • Recurrent respiratory tract infections are common due to neurological causes, aspiration, immobility, and a small chest with limited excursion.[physio-pedia.com]
  • Many children also have recurrent respiratory infections and aspirate. Since they cannot take nutrients orally, they require feeding tubes for nutrition.[complexchild.org]
  • Respiratory infections such aspneumonia, and aspiration (inhaling liquids or solids into the lungs) may affect sufferers. Some children have heart defects. Cataracts can be removed in infancy through surgery.[geneticdisordersuk.org]
  • Most children with RCDP1 have recurrent respiratory tract infections caused by neurologic compromise, aspiration, immobility, and a small chest with restricted expansion.[ncbi.nlm.nih.gov]
  • Pneumonias and upper respiratory infections are most frequent, while aspirations are also fairly common. Temperature: Infants with RCP often seem to perspire easily and may overheat.[angelfire.com]
High Arched Palate
  • Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched[diseaseinfosearch.org]
Corneal Opacity
  • Contiguous gene deletions involving ARSE result in more complex phenotypes, including ichthyosis and corneal opacities resulting from steroid sulfatase deficiency.[ncbi.nlm.nih.gov]
Irritability
  • They typically have contractures and stiff, painful joints, causing irritability in infancy. Cartilaginous structures of the face are affected , resulting in frontal bossing and a short, concave nasal ridge. Cataracts.[ncbi.nlm.nih.gov]

Treatment

  • TREATMENT Treatment for Rhizomelic Chondrodysplasia Punctata Type 1 is symptomatic depending on the features of an individual.[evolvegene.com]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Contact other families affected by rhizomelic chondrodysplasia punctata Treatments There is no cure for RCDP however research is being carried out in the United States into potential treatments.[geneticdisordersuk.org]
  • There is no specific treatment for the enzyme deficiency. The rhizomelic condrodisplasia has a grave prognosis, usually with death during first decade of life (mainly because of respiratory complications).[tellmegen.com]

Prognosis

  • This article presents a case report of type I RCDP, as well as describes genetic influences, symptoms, diagnosis, management, and prognosis.[ncbi.nlm.nih.gov]
  • What is the prognosis for a person with Rhizomelic Chondrodysplasia Punctata Type 1? 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 10.[counsyl.com]
  • The rhizomelic condrodisplasia has a grave prognosis, usually with death during first decade of life (mainly because of respiratory complications).[tellmegen.com]
  • […] difficulties Frequent respiratory infections Shortening of bone lengths in the upper arms and thighs (i.e. rhizomelia) Bone abnormalities Joint contractures Characteristic facial features (e.g. small nose, protruding forehead, widely spaced eyes) Cataracts PROGNOSIS[evolvegene.com]
  • This is how doctors determine the prognosis for the child - a blood test for plasmalogens. The higher the plasmalogen levels the better the outcome for the child.[geneticdisordersuk.org]

Etiology

  • These findings, in combination with the specific clinical presentation, leads to the diagnosis of rhizomelic chondrodysplasia punctata. [3] Etiology/Causes Genetic mutations of three genes mentioned above, which leads to peroxisome biogenesis disorders[physio-pedia.com]
  • Etiology The disease is caused by defective peroxisome metabolism.[orpha.net]

Epidemiology

  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.com]
  • Summary Epidemiology Prevalence of the rhizomelic type is estimated at 1 in 100,000.[orpha.net]
  • Relevant External Links for PEX7 Genetic Association Database (GAD) PEX7 Human Genome Epidemiology (HuGE) Navigator PEX7 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PEX7 No data available for Genatlas for PEX7 Gene PEX7 gene structure[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. / Oswald, Gretchen; Lawson, Cathleen ; Raymond, Gerald V ; Golden, W. Christopher; Braverman, Nancy.[experts.umn.edu]
  • There are major introductory sections on the scientific basis of disease; and in the system-based clinical sections genetic predisposition, pathophysiology, pathogenesis, molecular mechanisms, and cell biology are covered in depth for all significant[books.google.com]
  • Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology. American Journal Of Medical Genetics. Part A [serial online]. December 2011;155A(12):3160-3163.[physio-pedia.com]
  • Plasmalogen levels seem to play an important role in the pathophysiology of CNS abnormalities in RCDP. Increased phytanic acid appears not to be the cause of cerebellar atrophy.[neurology.org]
  • The condition is acquired in an autosomal recessive manner. [1] Pathophysiology [ edit ] The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly.[en.wikipedia.org]

Prevention

  • The main goals for physical therapy are to prevent secondary impairments of RCDP. [3] Improve contractures related to RCDP Prevention of respiratory complications Management of spasticity Provide cognitive stimulation Can also be a referral source for[physio-pedia.com]
  • It gives compreensive coverage of the epidemiology, aetiology, and mechanism of disease, as well as clear, unambiguous coverage of the diagnosis, practical management and prevention of the entire spectrum of medical disorders.[books.google.com]
  • Mutations in the PEX7 gene prevent plasmalogen production and disrupt peroxisome functions. The condition is inherited in an autosomal recessive pattern.[evolvegene.com]
  • Prevention of Secondary Complications Poor feeding and recurrent aspiration necessitate the placement of a gastrostomy tube. Note: Improved nutrition does not enhance linear growth.[ncbi.nlm.nih.gov]
  • Mutations in the PEX7 , GNPAT , or AGPS genes prevent peroxisomes from making plasmalogens.[ghr.nlm.nih.gov]

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