Microform holoprosencephaly

General Information (adopted from Orphanet):

Synonyms, Signs: FUSED INCISORS
SINGLE UPPER CENTRAL INCISOR
SMMCI SYNDROME, INCLUDED
SINGLE CENTRAL MAXILLARY INCISOR SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME, INCLUDED
INCISORS, FUSED
SMMCI
Microform HPE
Number of Symptoms 10
OrphanetNr: 280200
OMIM Id: 147250
ICD-10: Q04.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Holoprosencephaly
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0010644) Midnasal stenosis 2 / 7739
2
(HPO:0000601) Hypotelorism 83 / 7739
3
(HPO:0006315) Single median maxillary incisor 13 / 7739
4
(HPO:0100789) Torus palatinus 6 / 7739
5
(HPO:0000453) Choanal atresia 76 / 7739
6
(HPO:0000252) Microcephaly 832 / 7739
7
(HPO:0000830) Anterior hypopituitarism 9 / 7739
8
(HPO:0004322) Short stature 1232 / 7739
9
(OMIM) Congenital nasal pyriform aperture stenosis 2 / 7739
10
(OMIM) Isolated growth hormone deficiency 4 / 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 ...