Solitary Median Maxillary Central Incisor (SMMCI)

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OMIM 57 147250 Orphanet 59 ORPHA2286 MESH via Orphanet 45 C537342 UMLS via Orphanet 74 C1840235 ICD10 via Orphanet 34 K00.2

MedGen 42 C1840235 KEGG 37 H00652 SNOMED-CT via HPO 69 263681008 80281008 271611007 204508009 44169009 204099004 7183006 204108000 61142002 92828000 93390002 44593008 2109003 86765009 30915001 237836003 707609006 205798005 244683008 46752004 697945009 more UMLS 73 C1840235

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2286Disease definitionSolitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.EpidemiologyIt is estimated to occur in 1:50,000 live births.Clinical descriptionThe SMMCI tooth differs from the normal central incisor, in that the crown form is symmetric; it develops and erupts precisely in the midline of the maxillary dental arch in both primary and permanent dentitions. Congenital nasal malformation (choanal atresia, midnasal stenosis or congenital pyriform aperture stenosis) is positively associated with SMMCI. The presence of SMMCI tooth may be predictive of associated anomalies, and the serious anomaly holoprosencephaly. Common congenital anomalies associated with SMMCI are: severe to mild intellectual disability, congenital heart disease, cleft lip and/or palate and less frequently, microcephaly, hypopituitarism, hypotelorism, convergent strabismus, oesophageal and duodenal atresia, cervical hemivertebrae, cervical dermoid, hypothyroidism, scoliosis, absent kidney, micropenis and ambiguous genitalia. Short stature is present in half the children.EtiologyThe aetiology is uncertain. A missense mutation in the SHH gene (I111F) at 7q36 may be associated with SMMCI.Diagnostic methodsDiagnosis should be made by 8 months of age, but can be made at birth and even prenatally at 18-22 weeks from the routine mid-trimester ultrasound scan.Management and treatmentManagement depends upon the individual anomalies present. Choanal stenosis requires emergency surgical treatment and short stature may require growth hormone therapy. SMMCI tooth itself is mainly an aesthetic problem, which is ideally managed by combined orthodontic, prosthodontic and oral surgical treatment; alternatively, it can be left untreated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Solitary Median Maxillary Central Incisor, also known as single upper central incisor, is related to incisors, fused mandibular and thumb deformity, alopecia, pigmentation anomaly. An important gene associated with Solitary Median Maxillary Central Incisor is SHH (Sonic Hedgehog), and among its related pathways/superpathways is Hedgehog signaling pathway. Affiliated tissues include kidney, heart and pituitary, and related phenotypes are microcephaly and short stature

UniProtKB/Swiss-Prot : ⁷⁵ Solitary median maxillary central incisor: Rare dental anomaly characterized by the congenital absence of one maxillary central incisor.

Wikipedia : ⁷⁶ The phenomenon of tooth fusion arises through union of two normally separated tooth germs, and depending... more...

Description from OMIM: 147250

Clinical features from OMIM:

147250

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