Langer-Giedion Syndrome [Langerův-Giedionův syndrom]
topical
7
- Terms
-
Langer-Giedion syndrom
-
Acrodysplasia V
Giedion-Langer Syndrome
Tricho-Rhino-Phalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type 2
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome with Exostoses
Trichorhinophalangeal Syndrome, Type II
TRPSII
Persistent link
https://www.medvik.cz/link/D015826
Definition
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
- DUI
- D015826 MeSH Browser
- CUI
- M0024244
- Previous indexing
- Exostoses, Multiple (1972-1989)
- History note
- 90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
- Online note
- use EXOSTOSES, MULTIPLE to search GIEDION-LANGER SYNDROME 1968-89
- Public note
- 90; was GIEDION-LANGER SYNDROME see EXOSTOSES, MULTIPLE 1968-89
Allowable subheadings
- BL
- blood 0
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- CN
- congenital 0
- DI
- diagnosis 2
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 0
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 2
- GE
- genetics 6
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 0
- MI
- microbiology 0
- MO
- mortality 0
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 1
- PP
- physiopathology 0
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 1
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0
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Occurrences in Medvik records