CONDRODISPLASIA PUNCTATA RIZOMLICA PDF

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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Rhizomelic chondrodysplasia punctata – Wikipedia

For all other condrodisplsia, please send your remarks via contact us. Only comments written in English can be processed. Rhizomelic chondrodysplasia is a form chondrodysplasia punctata see this terma group of diseases in which the common characteristic is calcifications near joints at birth.

Rhizomelic chondrodysplasia is associated with shortness of the femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit. The disease is caused by defective peroxisome metabolism.

The majority of patients affected by this disease carry mutations in the PEX7 gene 6qq Other rizolmica are due to mutations in the GNPAT gene 1q42 encoding dihydroxyacetone phosphate acyltransferase or in the AGPS gene 2q31 encoding peroxisomal alkyldihydroxyacetonephosphate synthase. Diagnosis is based on clinical and radiologic findings and can be confirmed by molecular analysis.

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Prenatal diagnosis is feasible when the causative mutation has already been condtodisplasia in the family. Rhizomelic chondrodysplasia has a severe prognosis with death generally occurring during the first decade of life, mainly due to respiratory complications.

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Check condrdisplasia box if you wish to receive a copy of your message. Disease definition Rhizomelic chondrodysplasia is a form chondrodysplasia punctata see this terma group of diseases in which the common characteristic is calcifications near joints at birth.

Rhizomelic chondrodysplasia punctata

InfancyNeonatal ICD Summary Epidemiology Prevalence of the rhizomelic type is estimated at 1 inClinical description Rhizomelic chondrodysplasia is associated with shortness of the femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe intellectual deficit.

Etiology The disease is caused by defective peroxisome metabolism. Diagnostic methods Diagnosis is based on clinical and radiologic findings and can be confirmed by molecular analysis.

Differential diagnosis The principle differential diagnosis is Zellweger syndrome see this term.

Orphanet: Rhizomelic chondrodysplasia punctata

Antenatal diagnosis Prenatal diagnosis is feasible when the causative mutation has already been identified in the family. Genetic counseling The disease is transmitted in an autosomal recessive manner. Management and treatment There is no specific pujctata for the enzyme defect.

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Prognosis Rhizomelic chondrodysplasia has a severe prognosis with death generally occurring during the first decade of life, mainly due to respiratory complications.

Detailed information Article for general public Svenska Professionals Clinical genetics review English Additional information Further information on this disease Classification s 6 Gene punftata 4 Clinical signs and symptoms Publications in Condrodisplxsia Other website s 8.

Health care resources for this disease Expert centres Diagnostic tests 83 Patient organisations 48 Orphan drug s 0. Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.