SMMCI
MCID: SLT005
MIFTS: 32

Solitary Median Maxillary Central Incisor (SMMCI)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Solitary Median Maxillary Central Incisor

MalaCards integrated aliases for Solitary Median Maxillary Central Incisor:

Name: Solitary Median Maxillary Central Incisor 57 53 75 73
Single Upper Central Incisor 57 53 59 40
Smmci 57 53 59 75
Solitary Median Maxillary Central Incisor Syndrome 53 59 37
Single Median Maxillary Central Incisor 57 13
Single Central Maxillary Incisor 57 53
Fused Incisors 57 53
Incisors Fused 76 53
Incisors, Fused 57

Characteristics:

Orphanet epidemiological data:

59
solitary median maxillary central incisor syndrome
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Australia); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
smcci can be an isolated anomaly, part of a syndrome or association as in vacterl and charge , part of autosomal dominant holoprosencephaly spectrum such as in hpe3 , hpe2 , and hpe4 , or a feature in chromosomal abnormalities such as del(18p) and del(7)(q36->qter)


HPO:

32
solitary median maxillary central incisor:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

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
UMLS 73 C1840235

Summaries for Solitary Median Maxillary Central Incisor

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

Related Diseases for Solitary Median Maxillary Central Incisor

Diseases related to Solitary Median Maxillary Central Incisor via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 incisors, fused mandibular 12.4
2 thumb deformity, alopecia, pigmentation anomaly 11.8
3 choanal atresia, posterior 10.5
4 holoprosencephaly 10.4
5 growth hormone deficiency 10.4
6 cleft palate, isolated 10.2
7 cayler cardiofacial syndrome 10.2
8 hemifacial microsomia 10.2
9 digeorge syndrome 10.2
10 duane retraction syndrome 10.2
11 isolated duane retraction syndrome 10.2
12 townes-brocks syndrome 10.2
13 1q duplications 10.2
14 trisomy 1q 10.2
15 pituitary hypoplasia 10.1
16 ectodermal dysplasia 10.0

Graphical network of the top 20 diseases related to Solitary Median Maxillary Central Incisor:



Diseases related to Solitary Median Maxillary Central Incisor

Symptoms & Phenotypes for Solitary Median Maxillary Central Incisor

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly

Respiratory Nasopharynx:
choanal atresia
midnasal stenosis
congenital nasal pyriform aperture stenosis

Endocrine Features:
hypopituitarism
isolated growth hormone deficiency

Head And Neck Teeth:
single median maxillary central incisor (smmci)

Growth Height:
short stature

Head And Neck Eyes:
hypotelorism

Head And Neck Mouth:
prominent midpalatal ridge (torus palatinus)


Clinical features from OMIM:

147250

Human phenotypes related to Solitary Median Maxillary Central Incisor:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 occasional (7.5%) HP:0000252
2 short stature 32 very rare (1%) HP:0004322
3 intellectual disability, mild 32 very rare (1%) HP:0001256
4 specific learning disability 32 very rare (1%) HP:0001328
5 microphthalmia 32 occasional (7.5%) HP:0000568
6 choanal atresia 32 very rare (1%) HP:0000453
7 holoprosencephaly 32 frequent (33%) HP:0001360
8 hypotelorism 32 very rare (1%) HP:0000601
9 cleft upper lip 32 very rare (1%) HP:0000204
10 anophthalmia 32 occasional (7.5%) HP:0000528
11 anosmia 32 occasional (7.5%) HP:0000458
12 single median maxillary incisor 32 very rare (1%) HP:0006315
13 cyclopia 32 occasional (7.5%) HP:0009914
14 abnormality of chromosome segregation 32 very rare (1%) HP:0002916
15 coloboma 32 occasional (7.5%) HP:0000589
16 growth hormone deficiency 32 very rare (1%) HP:0000824
17 torus palatinus 32 HP:0100789
18 midnasal stenosis 32 very rare (1%) HP:0010644
19 prominent median palatal raphe 32 very rare (1%) HP:0002708
20 abnormality of the nasopharynx 32 very rare (1%) HP:0001739
21 pyriform aperture stenosis 32 HP:0025011

Drugs & Therapeutics for Solitary Median Maxillary Central Incisor

Search Clinical Trials , NIH Clinical Center for Solitary Median Maxillary Central Incisor

Genetic Tests for Solitary Median Maxillary Central Incisor

Anatomical Context for Solitary Median Maxillary Central Incisor

MalaCards organs/tissues related to Solitary Median Maxillary Central Incisor:

41
Kidney, Heart, Pituitary

Publications for Solitary Median Maxillary Central Incisor

Articles related to Solitary Median Maxillary Central Incisor:

(show all 35)
# Title Authors Year
1
Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. ( 29333838 )
2018
2
Solitary Median Maxillary Central Incisor Versus Agenesis of the Maxillary Central Incisor. ( 27098718 )
2016
3
Congenital nasal pyriform aperture stenosis in association with solitary median maxillary central incisor: unique radiologic features. ( 27594945 )
2016
4
Genotypic and phenotypic variation in six patients with solitary median maxillary central incisor syndrome. ( 26080100 )
2015
5
Solitary Median Maxillary Central Incisor. ( 26138879 )
2015
6
Solitary median maxillary central incisor: A case report of a rare dental anomaly. ( 26015739 )
2015
7
Dental Items of Interest: The Case of Delphic Sibyl by Michelangelo: Solitary Median Maxillary Central Incisor or Mesiodens. ( 26930847 )
2015
8
Clinical course and implications of congenital nasal pyriform stenosis and solitary median maxillary central incisor in a newborn: a case report. ( 24950703 )
2014
9
Premolar transplantation in a patient with solitary median maxillary central incisor syndrome. ( 25432260 )
2014
10
Solitary median maxillary central incisor syndrome associated with unique cleft palate: a rare case report. ( 24598504 )
2014
11
Solitary median maxillary central incisor syndrome (SMMCI) with congenital nasal puriform aperture stenosis: literature review and case report with comprehensive dental treatment and 14A years follow-up. ( 23775592 )
2013
12
Solitary median maxillary central incisor, a clinical predictor of hypoplastic anterior pituitary, ectopic neurohypophysis and growth hormone deficiency. ( 23729612 )
2013
13
Solitary median maxillary central incisor: a report of 2 cases. ( 22583889 )
2012
14
Concomitant solitary median maxillary central incisor and fused right mandibular incisor in primary dentition. ( 23230364 )
2012
15
The primary Maxillary Central Incisor in the Solitary Median Maxillary Central Incisor syndrome. ( 22455533 )
2012
16
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. ( 22138217 )
2012
17
Solitary median maxillary central incisor in association with hemifacial microsomia: A rare case report and review of literature. ( 22346174 )
2011
18
Solitary median maxillary central incisor and congenital nasal pyriform aperture stenosis combined with asymmetric crying facies and postaxial lower limb reduction defects: a unique combination of features. ( 21167328 )
2011
19
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. ( 20626079 )
2010
20
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. ( 20627328 )
2010
21
Palatal expansion in a patient with solitary median maxillary central incisor syndrome. ( 20889056 )
2010
22
Solitary median maxillary central incisor syndrome and holoprosencephaly: a case report. ( 21070710 )
2010
23
Solitary median maxillary central incisor. ( 19341585 )
2009
24
Solitary median maxillary central incisor syndrome occurring together with oromandibular-limb hypogenesis syndrome type 1: a case report of this previously unreported combination of syndromes. ( 18328045 )
2008
25
The neurocranial and craniofacial morphology in children with solitary median maxillary central incisor (SMMCI). ( 18416751 )
2008
26
Prenatal diagnosis of solitary median maxillary central incisor syndrome by magnetic resonance imaging. ( 18570243 )
2008
27
Solitary median maxillary central incisor in association with Goldenhar's syndrome: a case report. ( 17658185 )
2007
28
Solitary median maxillary central incisor and normal stature: a report of three cases. ( 16430527 )
2006
29
Solitary median maxillary central incisor (SMMCI) syndrome. ( 16722608 )
2006
30
DiGeorge syndrome associated with solitary median maxillary central incisor. ( 16252847 )
2005
31
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog. ( 15103725 )
2004
32
Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. ( 12868480 )
2003
33
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. ( 11471164 )
2001
34
Face, palate, and craniofacial morphology in patients with a solitary median maxillary central incisor. ( 11296511 )
2001
35
Solitary median maxillary central incisor, short stature, choanal atresia/midnasal stenosis (SMMCI) syndrome. ( 9431535 )
1997

Variations for Solitary Median Maxillary Central Incisor

UniProtKB/Swiss-Prot genetic disease variations for Solitary Median Maxillary Central Incisor:

75
# Symbol AA change Variation ID SNP ID
1 SHH p.Ile111Phe VAR_017883 rs104894049
2 SHH p.Val332Ala VAR_023810 rs104894052

ClinVar genetic disease variations for Solitary Median Maxillary Central Incisor:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh37 Chromosome 7, 155595836: 155595836
2 SHH NM_000193.3(SHH): c.1147G> A (p.Ala383Thr) single nucleotide variant Uncertain significance rs137853341 GRCh38 Chromosome 7, 155803142: 155803142
3 SHH NM_000193.3(SHH): c.331A> T (p.Ile111Phe) single nucleotide variant Pathogenic rs104894049 GRCh37 Chromosome 7, 155599221: 155599221
4 SHH NM_000193.3(SHH): c.331A> T (p.Ile111Phe) single nucleotide variant Pathogenic rs104894049 GRCh38 Chromosome 7, 155806527: 155806527
5 SHH NM_000193.3(SHH): c.995T> C (p.Val332Ala) single nucleotide variant Pathogenic rs104894052 GRCh37 Chromosome 7, 155595988: 155595988
6 SHH NM_000193.3(SHH): c.995T> C (p.Val332Ala) single nucleotide variant Pathogenic rs104894052 GRCh38 Chromosome 7, 155803294: 155803294
7 SHH NM_000193.3(SHH): c.383G> A (p.Trp128Ter) single nucleotide variant Pathogenic rs104894053 GRCh37 Chromosome 7, 155599169: 155599169
8 SHH NM_000193.3(SHH): c.383G> A (p.Trp128Ter) single nucleotide variant Pathogenic rs104894053 GRCh38 Chromosome 7, 155806475: 155806475
9 SIX3 NM_005413.3(SIX3): c.109G> T (p.Gly37Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199823175 GRCh37 Chromosome 2, 45169352: 45169352
10 SIX3 NM_005413.3(SIX3): c.109G> T (p.Gly37Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199823175 GRCh38 Chromosome 2, 44942213: 44942213
11 SHH NM_000193.3(SHH): c.629G> A (p.Gly210Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 155596354: 155596354
12 SHH NM_000193.3(SHH): c.629G> A (p.Gly210Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 155803660: 155803660

Expression for Solitary Median Maxillary Central Incisor

Search GEO for disease gene expression data for Solitary Median Maxillary Central Incisor.

Pathways for Solitary Median Maxillary Central Incisor

Pathways related to Solitary Median Maxillary Central Incisor according to KEGG:

37
# Name Kegg Source Accession
1 Hedgehog signaling pathway hsa04340

GO Terms for Solitary Median Maxillary Central Incisor

Sources for Solitary Median Maxillary Central Incisor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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