2023/6/13 -Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal ...
Rhizomelic syndrome, Urbach type - Orphanet
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2024/4/10 -Disease definition. Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies ...
Rhizomelic limb shortening with dysmorphic features(RLSDF) - NCBI
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- medgen
- https://www.ncbi.nlm.nih.gov
- medgen
2023/8/17 -Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of the extremities, predominantly of the upper limbs, ...
Chondrodysplasia punctata | Radiology Reference Article
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2024/2/6 -Pathology. Subtypes. Chondrodysplasia punctata can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic chondrodysplasia punctata (RCDP).
Prenatal diagnosis to identify compound heterozygous variants in ...
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2023/8/17 -Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a ...
Rhizomelic Chondrodysplasia Punctata - Symptoms, Causes ...
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2023/11/30 -Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder associated with a deficiency of ether-type lipids called plasmalogens that affect the development ...
Rhizomelic chondrodysplasia punctata type 3 - Orphanet
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- https://www.orpha.net
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2024/4/10 -This disease is described under Rhizomelic chondrodysplasia punctata. Detailed information. General public. Article for general public.
Rhizomelic Chondrodysplasia Punctata types 1, 2 & 3
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2023/12/19 -Rhizomelic Chondrodysplasia Punctata is a rare inherited condition that affects fewer than 1 in 100,000 people worldwide. RCP type 1 is more common than RCP ...
Achondroplasia - Pediatrics - Orthobullets
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2024/1/29 -Patients present with rhizomelic dwarfism, lumbar and foramen magnum stenosis, frontal bossing, and normal intelligence. Diagnosis is usually made based on ...
Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel ...
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2023/6/29 -Rhizomelic chondrodysplasia punctata (RCDP) is a rare genetic disease caused by an inability to produce plasmalogens. Plasmalogens are a special class of ...