KEGG   DISEASE: Solitary median maxillary central incisor syndromeHelp
Entry
H00652                      Disease                                

Name
Solitary median maxillary central incisor syndrome
Description
Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense mutations in the SHH, a key player in ventral axis patterning, is associated with the disorder.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Digestive system diseases
  Mouth and dental diseases
   H00652  Solitary median maxillary central incisor syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H00652  Solitary median maxillary central incisor syndrome
BRITE hierarchy
Pathway
hsa04340  Hedgehog signaling pathway
Gene
SHH [HSA:6469] [KO:K11988]
Other DBs
ICD-11: LA30.4
ICD-10: K00.2
MeSH: C537342
OMIM: 147250
Reference
  Authors
Garavelli L, Zanacca C, Caselli G, Banchini G, Dubourg C, David V, Odent S, Gurrieri F, Neri G
  Title
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
  Journal
Am J Med Genet A 127A:93-5 (2004)
DOI:10.1002/ajmg.a.20685
Reference
  Authors
Bolan M, Derech CD, Ribeiro GL, Pereira ET, Almeida IC
  Title
Solitary median maxillary central incisor.
  Journal
J Dent Child (Chic) 76:82-6 (2009)

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