Search on: ROTHMUND-THOMSON SYNDROME 
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Descriptor English:   Rothmund-Thomson Syndrome 
Descriptor Spanish:   Síndrome Rothmund-Thomson 
Descriptor Portuguese:   Síndrome de Rothmund-Thomson 
Synonyms English:   Congenital Poikiloderma
Congenitale, Poikiloderma
Congenitales, Poikiloderma
Poikiloderma Atrophicans and Cataract
Poikiloderma Congenitale
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma Congenitales
Poikiloderma of Rothmund Thomson
Poikiloderma of Rothmund-Thomson
Rothmund Thomson Syndrome
Rothmund-Thomson Poikiloderma
Rothmund-Thomson Poikilodermas
Syndrome, Rothmund-Thomson  
Tree Number:   C16.131.831.775
C16.320.850.765
C16.614.760
C17.800.804.775
C17.800.827.775
C18.452.284.760
Definition English:   An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM. 
History Note English:   2006 (1964) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   11468 
Unique Identifier:   D011038 

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