{"Name":"Solitary median maxillary central incisor syndrome","DiseaseID__c":"GARD:0004877","id":4877,"encodedName":"solitary-median-maxillary-central-incisor-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Solitary median maxillary central incisor syndrome","Xref_IDs__c":"707609006; C1840235; C537342; MEDGEN:326686; MONDO:0007819; OMIM:147250","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007819","Disease_Description__c":"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.","GARD_Name__c":"Solitary median maxillary central incisor syndrome","GARD_Synonym__c":"fused incisors; only one upper front tooth; single central incisor; single central incisor syndrome; single central maxillary incisor; single central upper incisor; single maxillary central incisor; single median incisor; single median maxillary central incisor; single median maxillary incisor; single midline maxillary incisor; single midline upper front tooth; single upper central incisor; smmci; smmci syndrome; solitary median maxillary central incisor; solitary midline maxillary central incisor","Curated_Disease_Description_Source__c":"MEDGEN:C1840235","Curated_Disease_Description__c":"The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:147250","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007819","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"The presence of a single, median maxillary incisor, affecting both the primary maxillary incisor and the permanent maxillary incisor.","Curated_Disease_Description_Source__c":"MEDGEN:C1840235","GARD_Synonym__c":"fused incisors; only one upper front tooth; single central incisor; single central incisor syndrome; single central maxillary incisor; single central upper incisor; single maxillary central incisor; single median incisor; single median maxillary central incisor; single median maxillary incisor; single midline maxillary incisor; single midline upper front tooth; single upper central incisor; smmci; smmci syndrome; solitary median maxillary central incisor; solitary midline maxillary central incisor","Name":"Solitary median maxillary central incisor syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Families for HoPE","Website__c":"https://familiesforhope.org/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1840235"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004877","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=707609006","Source__c":"C1840235; MONDO:0007819","Xref__c":"707609006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=326686","Source__c":"C1840235","Xref__c":"MEDGEN:326686"},{"URL__c":"https://www.omim.org/entry/147250","Source__c":"C1840235; MONDO:0007819","Xref__c":"OMIM:147250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537342","Source__c":"MONDO:0007819","Xref__c":"C537342"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840235","Source__c":"C1840235","Xref__c":"C1840235"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006315","Source__c":"C1840235","Xref__c":"HP:0006315"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007819","Source__c":"GARD:0004877","Xref__c":"MONDO:0007819"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SHH","GHR_URL__c":"https://medlineplus.gov/genetics/gene/shh","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006315","HPO_Synonym__c":"Only one upper front tooth; Single central incisor; Single central upper incisor; Single maxillary central incisor; Single median incisor; Single median maxillary incisor; Single midline maxillary incisor; Single midline upper front tooth; Solitary median maxillary central incisor; Solitary midline maxillary central incisor","HPO_Name__c":"Solitary median maxillary central incisor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of chromosome segregation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002916","HPO_Name__c":"Abnormality of chromosome segregation","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the nasopharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001739","HPO_Synonym__c":"Abnormality of the nasopharynx","HPO_Name__c":"Abnormal nasopharynx morphology","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001360","HPO_Synonym__c":"Single brain ventricle","HPO_Name__c":"Holoprosencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010644","HPO_Synonym__c":"Midnasal atresia or stenosis","HPO_Name__c":"Midnasal stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000589","HPO_Synonym__c":"Notched pupil; Ocular coloboma; Ocular colobomas","HPO_Name__c":"Coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002708","HPO_Synonym__c":"Prominent central palatal ridge; Prominent central ridge on roof of the mouth; Prominent medial palatal suture","HPO_Name__c":"Prominent median palatal raphe","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000458","HPO_Synonym__c":"Loss of smell; Lost smell","HPO_Name__c":"Anosmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000601","HPO_Synonym__c":"Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism","HPO_Name__c":"Hypotelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000824","HPO_Name__c":"Decreased response to growth hormone stimulation test","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009914","HPO_Synonym__c":"Cyclops eye; Single central eye","HPO_Name__c":"Cyclopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000830","HPO_Name__c":"Anterior hypopituitarism","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the globe or eyeball.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000528","HPO_Synonym__c":"Absence of eyeballs; Absence of globes of eyes; Anophthalmia, clinical; Clinical anophthalmia, unilateral/bilateral; Failure of development of eyeball; Missing eyeball; Missing globe of eye; No eyeball; No globe of eye; Ocular absence","HPO_Name__c":"Anophthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","Feature__r":{"HPO_Description__c":"A bony protrusion present on the midline of the hard palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100789","HPO_Synonym__c":"Palatal tori; Palatal torus; Palate exostoses","HPO_Name__c":"Torus palatinus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","Feature__r":{"HPO_Description__c":"Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025011","HPO_Name__c":"Pyriform aperture stenosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:147250","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["fused incisors"," only one upper front tooth"," single central incisor"," single central incisor syndrome"," single central maxillary incisor"," single central upper incisor"," single maxillary central incisor"," single median incisor"," single median maxillary central incisor"," single median maxillary incisor"," single midline maxillary incisor"," single midline upper front tooth"," single upper central incisor"," smmci"," smmci syndrome"," solitary median maxillary central incisor"," solitary midline maxillary central incisor"]}