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Descriptor English: Langer-Giedion Syndrome
Descriptor Spanish: Síndrome de Langer-Giedion
Descriptor síndrome de Langer-Giedion
Entry term(s) acrodisplasia V
síndrome de Giedion-Langer
síndrome tricorrinofalángico tipo II
Scope note: Trastorno autosómico dominante caracterizado por epífisis de forma cónica en las manos y exostosis cartilaginosas múltiples. A menudo existe DISCAPACIDAD INTELECTUAL y anomalías del cromosoma 8. Las exostosis en este síndrome tienen un aspecto idéntico a las de la EXOSTOSIS HEREDITARIA MÚLTIPLE.
Descriptor Portuguese: Síndrome de Langer-Giedion
Descriptor French: Syndrome de Langer-Giedion
Entry term(s): Acrodysplasia V
Acrodysplasia Vs
Giedion Langer Syndrome
Giedion-Langer Syndrome
Langer Giedion Syndrome
Syndrome, Giedion-Langer
Syndrome, Langer-Giedion
TRPSII
Tricho Rhino Phalangeal Syndrome Type II
Tricho-Rhino-Phalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type 2
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
Trichorhinophalangeal Syndrome, Type II
Tree number(s): C05.116.099.708.582
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D015826
Scope note: Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
Annotation: an osteochondrodysplasia
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CN congenital
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
Previous Indexing: Exostoses, Multiple (1972-1989)
Public MeSH Note: 90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
Online Note: use EXOSTOSES, MULTIPLE to search GIEDION-LANGER SYNDROME 1968-89
History Note: 90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
DeCS ID: 24765
Unique ID: D015826
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1990/01/01
Date of Entry: 1989/05/15
Revision Date: 2013/07/08
Langer-Giedion Syndrome - Preferred
Concept UI M0024244
Scope note Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
Preferred term Langer-Giedion Syndrome
Entry term(s) Acrodysplasia V
Acrodysplasia Vs
Giedion Langer Syndrome
Giedion-Langer Syndrome
Langer Giedion Syndrome
Syndrome, Giedion-Langer
Syndrome, Langer-Giedion
TRPSII
Tricho Rhino Phalangeal Syndrome Type II
Tricho-Rhino-Phalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type 2
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
Trichorhinophalangeal Syndrome, Type II



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