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    • Rhizomelic syndrome, Urbach type - Orphanet

    1. https://www.orpha.net
    2. disease
    3. detail
    1. https://www.orpha.net
    2. disease
    3. detail

    2024/4/10 -Disease definition. Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies ...


    Chondrodysplasia punctata | Radiology Reference Article

    1. https://radiopaedia.org
    2. chondrodysplasia-punctata
    1. https://radiopaedia.org
    2. chondrodysplasia-punctata

    2024/2/6 -Pathology. Subtypes. Chondrodysplasia punctata can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic chondrodysplasia punctata (RCDP).


    Rhizomelic Chondrodysplasia Punctata - Symptoms, Causes ...

    1. https://rarediseases.org
    2. rare-diseases
    3. rhizomelic-chond...
    1. https://rarediseases.org
    2. rare-diseases
    3. rhizomelic-chond...

    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

    1. https://www.orpha.net
    2. disease
    3. detail
    1. https://www.orpha.net
    2. disease
    3. detail

    2024/4/10 -This disease is described under Rhizomelic chondrodysplasia punctata. Detailed information. General public. Article for general public.


    Achondroplasia - Pediatrics - Orthobullets

    1. https://www.orthobullets.com
    2. pediatrics
    3. achondroplasia
    1. https://www.orthobullets.com
    2. pediatrics
    3. achondroplasia

    2024/1/29 -Patients present with rhizomelic dwarfism, lumbar and foramen magnum stenosis, frontal bossing, and normal intelligence. Diagnosis is usually made based on ...


    Rhizomelic Chondrodysplasia Punctata types 1, 2 & 3

    1. https://metabolicsupportuk.org
    2. condition
    3. rhizomelic-c...
    1. https://metabolicsupportuk.org
    2. condition
    3. rhizomelic-c...

    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 ...


    c.147+77_147+121del AND Rhizomelic chondrodysplasia ...

    1. https://www.ncbi.nlm.nih.gov
    2. clinvar
    3. RCV001788383
    1. https://www.ncbi.nlm.nih.gov
    2. clinvar
    3. RCV001788383

    2024/2/28 -147+77_147+121del AND Rhizomelic chondrodysplasia punctata type 5. Germline classification: Benign (1 submission); Last evaluated: Sep 5, 2021; Review status ...


    Peroxisomal Disorders - Children's Health Issues - Merck Manuals

    1. https://www.merckmanuals.com
    2. peroxisomal-disorders
    1. https://www.merckmanuals.com
    2. peroxisomal-disorders

    2024/3/21 -Rhizomelic Chondrodysplasia Punctata. Symptoms of rhizomelic chondrodysplasia punctata begin in infancy and include a sunken appearance of the middle of the ...


    Achondroplasia - UpToDate

    1. https://www.uptodate.com
    2. achondroplasia
    3. print

    2023/12/8 -... (rhizomelic shortening), and macrocephaly. Patients with achondroplasia may have delayed motor development early on, but cognition is normal. There are a ...


    Zellweger Spectrum Disorder - StatPearls - NCBI Bookshelf

    1. https://www.ncbi.nlm.nih.gov
    2. books
    3. NBK560676

    2024/2/5 -Rhizomelic chondrodysplasia punctata associated with multiple enzymatic defects in peroxisome [5]. Go to: Epidemiology. Zellweger spectrum disorder is the most ...