Hypochondroplasia
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.
differential diagnosis
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AchondroplasiaAchondroplasia tardaAtypical achondroplasiaChromosome 4DwarfismDwarfs and pygmies in ancient EgyptFibroblast growth factor receptor 3HCHJudit Rolo MarichalList of OMIM disorder codesList of diseases (H)List of genetic disordersMacrocephalyMunchkin catNicole TurnerRestricted Growth AssociationTiffany Thomas Kane
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Hypochondroplasia
Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.
has abstract
Die Hypochondroplasie (HCH) is ...... nd jedoch geringer ausgeprägt.
@de
Hipochondroplazja – genetyczni ...... dującego się na chromosomie 4.
@pl
Hipocondroplasia é uma displas ...... desproporcionalmente pequenos.
@pt
Hypochondroplasia (HCH) is a d ...... fied as short-limbed dwarfism.
@en
L'hypochondroplasie est une ma ...... pas d'atteinte intellectuelle.
@fr
La hipocondroplasia es una enf ...... bida hasta la adolescencia.
@es
Η υποχοχονδροπλασία είναι αναπ ...... Κατατάσσεται ως μικρομελιός .
@el
Гипохондроплазия — наследствен ...... ится к группе хондродисплазий.
@ru
季肋發育不全(HCH, Hypochondroplasia) ...... 體顯性遺傳,若父母其中一人為此病患者,則其後代有50%遺傳。
@zh
DiseasesDB
geneReviewsId
geneReviewsName
Hypochondroplasia
@en
ICD10
OMIM id
symptoms
treatment
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994,911,784
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caption
Hypochondroplasia is autosomal dominant in inheritance.
@en
causes
FGFR3 gene mutation
@en
diagnosis
Physical finding, X-ray
@en
DiseasesDB
GeneReviewsName
Hypochondroplasia
@en
GeneReviewsNBK
NBK1477
@en
ICD
@en
Q77.4
@en
name
Hypochondroplasia
@en
OMIM
symptoms
Skeletal dysplasia
@en
treatment
Special education, Laminectomy
@en
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wordnet_type
subject
hypernym
comment
Die Hypochondroplasie (HCH) is ...... nd jedoch geringer ausgeprägt.
@de
Hipochondroplazja – genetyczni ...... dującego się na chromosomie 4.
@pl
Hipocondroplasia é uma displas ...... desproporcionalmente pequenos.
@pt
Hypochondroplasia (HCH) is a d ...... fied as short-limbed dwarfism.
@en
L'hypochondroplasie est une ma ...... pas d'atteinte intellectuelle.
@fr
La hipocondroplasia es una enf ...... bida hasta la adolescencia.
@es
Η υποχοχονδροπλασία είναι αναπ ...... Κατατάσσεται ως μικρομελιός .
@el
Гипохондроплазия — наследствен ...... ится к группе хондродисплазий.
@ru
季肋發育不全(HCH, Hypochondroplasia) ...... 體顯性遺傳,若父母其中一人為此病患者,則其後代有50%遺傳。
@zh
label
Hipochondroplazja
@pl
Hipocondroplasia
@es
Hipocondroplasia
@pt
Hypochondroplasia
@en
Hypochondroplasie
@de
Hypochondroplasie
@fr
Υποχονδροπλασία
@el
Гипохондроплазия
@ru
季肋發育不全
@zh
sameAs
wasDerivedFrom
isPrimaryTopicOf
name
Hypochondroplasia
@en