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Descriptor English: Achondroplasia
Descriptor Spanish: Acondroplasia
Descriptor acondroplasia
Entry term(s) acondroplasia severa con retraso del desarrollo y acantosis nigricans
Scope note: Trastorno autosómico dominante que es la forma más frecuente de enanismo con miembros cortos. Los individuos afectados presentan baja estatura por acortamiento rizomélico de los miembros, facies característica con frente prominente e hipoplasia de la porción media de la cara, lordosis lumbar exagerada, limitación de la extensión del codo, GENU VARO y mano en tridente. (Traducción libre del original: Online Mendelian Inheritance in Man. http://www.ncb.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Descriptor Portuguese: Acondroplasia
Descriptor French: Achondroplasie
Entry term(s): Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Achondroplasias
Dysplasia, SADDAN
Dysplasias, SADDAN
SADDAN
SADDAN Dysplasia
SADDAN Dysplasias
SADDANs
Severe Achondroplasia 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
Tree number(s): C05.116.099.343.110
C05.116.099.708.017
C16.320.240.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D000130
Scope note: 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)
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Related: Receptor, Fibroblast Growth Factor, Type 3 MeSH
DeCS ID: 139
Unique ID: D000130
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08
Achondroplasia - Preferred
Concept UI M0000205
Scope note 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)
Preferred term Achondroplasia
Entry term(s) Achondroplasias
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans - Related but not broader or narrower
Concept UI M0567458
Preferred term Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Entry term(s) Dysplasia, SADDAN
Dysplasias, SADDAN
SADDAN
SADDAN Dysplasia
SADDAN Dysplasias
SADDANs
Severe Achondroplasia 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



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