Preferred Label : achondroplasia;

MeSH definition : An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001);

MeSH synonym : achondroplasias;

Related MeSH term : achondroplasia, severe, with developmental delay and acanthosis nigricans; Skeleton-Skin-Brain Syndrome; Skeleton Skin Brain Syndrome; Skeleton-Skin-Brain Syndromes; Syndrome, Skeleton-Skin-Brain; Syndromes, Skeleton-Skin-Brain; Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans; SADDAN; SADDANs; SADDAN Dysplasia; Dysplasia, SADDAN; Dysplasias, SADDAN; SADDAN Dysplasias;

Wikipedia link : https://en.wikipedia.org/wiki/Achondroplasia;

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An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)

https://www.paediatrieschweiz.ch/fr/prise-en-charge-therapeutique-achondroplasie-enfant/
2021
Switzerland
journal article
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Child
achondroplasia
Child
child
Child
child, nos
Achondroplasia
Treatments
Therapeutics
case management
therapeutics
Child
therapeutics

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2021
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France
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scientific and technical information
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child
france
Infigratinib
phenylurea compounds
pyrimidines
receptor, fibroblast growth factor, type 1
infigratinib

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=15
https://www.orpha.net/data/patho/Han/Int/fr/Achondroplasie_FR_fr_HAN_ORPHA15.pdf
2016
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France
French
Persons with Disabilities
scientific and technical information
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signs and symptoms
popular works

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=935
France
French
rare diseases
achondroplasia and swiss type agammaglobulinemia
achondroplasia
agammaglobulinemia

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https://wp.medicalistes.fr/achondroplasie-2/
false
false
France
French
achondroplasia
forum and mailing list for patients

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http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=429
2008
true
France
French
scientific and technical information
achondroplasia

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http://www.tousalecole.fr/content/achondroplasie-ou-petite-taille
2004
false
France
French
schools
child
achondroplasia
achondroplasia
signs and symptoms
achondroplasia
Mainstreaming, Education
achondroplasia
popular works
association of patients

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