Solitary median maxillary central incisor syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: FUSED INCISORS
SMMCI SYNDROME, INCLUDED
SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED
INCISORS, FUSED
SMMCI
single upper central incisor
Number of Symptoms 55
OrphanetNr: 2286
OMIM Id: 147250
ICD-10: K00.2
UMLs: C1840235
MeSH: C537342
MedDRA:
Snomed: 8654005

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Microform holoprosencephaly
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
2
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
3
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
4
 (HPO:0000252) Microcephaly Frequent [Orphanet] occasional [HPO] 832 / 7739
5
 (HPO:0010804) Tented upper lip vermilion Frequent [Orphanet] 47 / 7739
6
 (HPO:0010644) Midnasal stenosis 9/14 [HPO] 11471164 IBIS 2 / 7739
7
 (HPO:0000528) Anophthalmia rare [HPO] 12503095 IBIS 42 / 7739
8
 (HPO:0000601) Hypotelorism Frequent [Orphanet] 8/14 [HPO] 11471164 IBIS 83 / 7739
9
 (HPO:0006315) Single median maxillary incisor Very frequent [Orphanet] 100% [HPO] 13 / 7739
10
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
11
 (HPO:0000366) Abnormality of the nose Very frequent [Orphanet] 56 / 7739
12
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
13
 (HPO:0000446) Narrow nasal bridge Frequent [Orphanet] 29 / 7739
14
 (HPO:0000453) Choanal atresia Very frequent [Orphanet] 8/14 [HPO] 11471164 IBIS 76 / 7739
15
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
16
 (HPO:0001739) Abnormality of the nasopharynx 1/14 [HPO] 11471164 IBIS 16 / 7739
17
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
18
 (HPO:0000204) Cleft upper lip 1/14 [HPO] 11471164 IBIS 193 / 7739
19
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
20
 (HPO:0000568) Microphthalmia rare [HPO] 12503095 IBIS 183 / 7739
21
 (HPO:0000458) Anosmia occasional [HPO] 49 / 7739
22
 (HPO:0100789) Torus palatinus 6 / 7739
23
 (HPO:0002708) Prominent median palatal raphe 14/14 [HPO] 11471164 IBIS 4 / 7739
24
 (HPO:0009914) Cyclopia Occasional [Orphanet] rare [HPO] 12503095 IBIS 11 / 7739
25
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
26
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
27
 (HPO:0000589) Coloboma occasional [HPO] 12503095 IBIS 47 / 7739
28
 (HPO:0001256) Intellectual disability, mild 3/14 [HPO] 11471164 IBIS 141 / 7739
29
 (HPO:0001328) Specific learning disability 5/14 [HPO] 11471164 IBIS 114 / 7739
30
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
31
 (HPO:0000830) Anterior hypopituitarism 9 / 7739
32
 (HPO:0009800) Maternal diabetes Occasional [Orphanet] 14 / 7739
33
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
34
 (HPO:0000824) Growth hormone deficiency 5/7 [HPO] 925821 IBIS 56 / 7739
35
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
36
 (HPO:0003422) Vertebral segmentation defect Occasional [Orphanet] 95 / 7739
37
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
38
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
39
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
40
 (HPO:0004322) Short stature Very frequent [Orphanet] 7/14 [HPO] 11471164 IBIS 1232 / 7739
41
 (HPO:0001052) Nevus flammeus Occasional [Orphanet] 88 / 7739
42
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
43
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
44
 (HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
45
 (HPO:0002916) Abnormality of chromosome segregation 2/14 [HPO] 11471164 IBIS 5 / 7739
46
 (HPO:0002099) Asthma Occasional [Orphanet] 62 / 7739
47
 (HPO:0003828) Variable expressivity 130 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
49
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
50
 (HPO:0001360) Holoprosencephaly frequent [HPO] 29 / 7739
51
 (OMIM) Isolated growth hormone deficiency 4 / 7739
52
 (OMIM) Congenital nasal pyriform aperture stenosis 2 / 7739
53
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
54
 (HPO:0040075) Hypopituitarism Occasional [Orphanet] 32 / 7739
55
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Rappaport et al. (1976, 1977) reported 7 unrelated patients with single (unpaired) deciduous and permanent maxillary central incisors and short stature. Five of them had isolated growth hormone deficiency. The other 2 had normal growth hormone responses but ...
Molecular genetics OMIM Nanni et al. (2001) performed a molecular study of 13 patients with solitary median maxillary central incisor who did not have holoprosencephaly. They studied 2 genes, SHH (600725) and SIX3 (603714), in which mutations had been reported in ...