/solitary median maxillary central incisor syndrome

solitary median maxillary central incisor syndrome

Rare Disease

MONDO:0007819

Also Known As

SMMCIsingle median maxillary central incisorsingle upper central incisorsolitary median maxillary central incisor syndromeFused incisorsSMMCI syndromeincisors fusedincisors, Fusedsingle central maxillary incisorsolitary MEDIAN maxillary central incisor

Definition

A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.