Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities. [ Orphanet:235 ]
Term information
- DOID:14796 (MONDO:equivalentTo)
- SCTID:2593002 (MONDO:equivalentTo)
- ICD10:Q87.1 (Orphanet:235)
- NCIT:C125591 (MONDO:equivalentTo)
- ICD9:742.8 (i2s)
- Orphanet:235 (OMIM:223370)
- OMIM:223370 (Orphanet:235)
- MedDRA:10059589 (Orphanet:235)
- MESH:C535718 (Orphanet:235)
- GARD:0006290 (MONDO:equivalentTo)
- UMLS:C0175691 (Orphanet:235)
gard_rare, ordo_malformation_syndrome
Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
http://identifiers.org/snomedct/2593002
http://www.orpha.net/ORDO/Orphanet_235
http://linkedlifedata.com/resource/umls/id/C0175691
http://purl.obolibrary.org/obo/NCIT_C125591
http://identifiers.org/mesh/C535718
http://identifiers.org/meddra/10059589
http://purl.obolibrary.org/obo/DOID_14796
http://identifiers.org/omim/223370
dwarfism-eczema-peculiar facies syndrome
intrauterine growth retardation, short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci
intrauterine growth retardation, short stature, microcephaly, mild intellectual disability with behavior problems, eczema, and unusual and distinctive faci
Term relations
- syndromic intellectual disability
- ectodermal dysplasia syndrome
- genetic multiple congenital anomalies/dysmorphic syndrome
- congenital nervous system disorder
- genetic nervous system disorder
- eyelids malposition disorder
- malformation syndrome with short stature
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- disease has feature some Microcephaly
- disease has feature some Retrognathia