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Diastema

MedGen UID:
3800
Concept ID:
C0011998
Finding
Synonyms: Diastemas; Diastemata
SNOMED CT: Diastema of teeth (734009000)
 
HPO: HP:0000699

Definition

Increased space between two adjacent teeth in the same dental arch. [from HPO]

Conditions with this feature

Nance-Horan syndrome
MedGen UID:
208665
Concept ID:
C0796085
Disease or Syndrome
Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003).
Alpha thalassemia-X-linked intellectual disability syndrome
MedGen UID:
337145
Concept ID:
C1845055
Disease or Syndrome
Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID). Craniofacial abnormalities include small head circumference, telecanthus or widely spaced eyes, short triangular nose, tented upper lip, and thick or everted lower lip with coarsening of the facial features over time. While all affected individuals have a normal 46,XY karyotype, genital anomalies comprise a range from hypospadias and undescended testicles, to severe hypospadias and ambiguous genitalia, to normal-appearing female external genitalia. Alpha-thalassemia, observed in about 75% of affected individuals, is mild and typically does not require treatment. Osteosarcoma has been reported in a few males with germline pathogenic variants.
FG syndrome 5
MedGen UID:
336854
Concept ID:
C1845119
Disease or Syndrome
Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).\n\nThe physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures).\n\nFG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker.\n\nFG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
Syndromic X-linked intellectual disability Claes-Jensen type
MedGen UID:
335139
Concept ID:
C1845243
Disease or Syndrome
Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020).
Diastema, dental medial
MedGen UID:
342157
Concept ID:
C1852086
Congenital Abnormality
Temtamy preaxial brachydactyly syndrome
MedGen UID:
381425
Concept ID:
C1854466
Disease or Syndrome
Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive disorder characterized by bilateral, symmetric preaxial brachydactyly and hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation (summary by Li et al., 2010).
Oculocerebrofacial syndrome, Kaufman type
MedGen UID:
343403
Concept ID:
C1855663
Disease or Syndrome
Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency. Feeding issues, ocular abnormalities, hearing impairment, and respiratory tract abnormalities are common. Ocular abnormalities can include structural abnormalities (microcornea or microphthalmia, coloboma, optic nerve hypoplasia), refractive errors (myopia ± astigmatism, hyperopia), strabismus, and entropion. Both conductive and sensorineural hearing loss have been reported as well as mixed conductive-sensorineural hearing loss of variable severity. Breathing problems can lead to prolonged hospitalization after birth in more than half of individuals. Less common findings include ectodermal abnormalities, cardiac manifestations, urogenital abnormalities, seizures, and skeletal abnormalities.
Deafness-oligodontia syndrome
MedGen UID:
387798
Concept ID:
C1857333
Disease or Syndrome
Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive.
7q11.23 microduplication syndrome
MedGen UID:
347562
Concept ID:
C1857844
Disease or Syndrome
7q11.23 duplication syndrome is characterized by delayed motor, speech, and social skills in early childhood; neurologic abnormalities (hypotonia, adventitious movements, and abnormal gait and station); speech sound disorders including motor speech disorders (childhood apraxia of speech and/or dysarthria) and phonologic disorders; behavior problems including anxiety disorders (especially social anxiety disorder [social phobia]), selective mutism, attention-deficit/hyperactivity disorder, oppositional disorders, physical aggression, and autism spectrum disorder; and intellectual disability in some individuals. Distinctive facial features are common. Cardiovascular disease includes dilatation of the ascending aorta. Approximately 30% of individuals have one or more congenital anomalies.
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
MedGen UID:
357271
Concept ID:
C1867397
Disease or Syndrome
This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
MGAT2-congenital disorder of glycosylation
MedGen UID:
443956
Concept ID:
C2931008
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are a genetically heterogeneous group of autosomal recessive disorders caused by enzymatic defects in the synthesis and processing of asparagine (N)-linked glycans or oligosaccharides on glycoproteins. These glycoconjugates play critical roles in metabolism, cell recognition and adhesion, cell migration, protease resistance, host defense, and antigenicity, among others. CDGs are divided into 2 main groups: type I CDGs (see, e.g., CDG1A, 212065) comprise defects in the assembly of the dolichol lipid-linked oligosaccharide (LLO) chain and its transfer to the nascent protein, whereas type II CDGs refer to defects in the trimming and processing of the protein-bound glycans either late in the endoplasmic reticulum or the Golgi compartments. The biochemical changes of CDGs are most readily observed in serum transferrin (TF; 190000), and the diagnosis is usually made by isoelectric focusing of this glycoprotein (reviews by Marquardt and Denecke, 2003; Grunewald et al., 2002). Genetic Heterogeneity of Congenital Disorder of Glycosylation Type II Multiple forms of CDG type II have been identified; see CDG2B (606056) through CDG2Z (620201), and CDG2AA (620454) to CDG2BB (620546).
Schuurs-Hoeijmakers syndrome
MedGen UID:
767257
Concept ID:
C3554343
Disease or Syndrome
PACS1 neurodevelopmental disorder (PACS1-NDD) is characterized by mild-to-severe neurodevelopmental delays. Language skills are more severely affected than motor skills. Hypotonia is reported in about a third of individuals and is noted to improve over time. Approximately 60% of individuals are ambulatory. Feeding difficulty is common, with 25% requiring gastrostomy tube to maintain appropriate caloric intake. Other common features include constipation, seizures, behavioral issues, congenital heart anomalies, short stature, and microcephaly. Common facial features include hypertelorism, downslanting palpebral fissures, bulbous nasal tip, low-set and simple ears, smooth philtrum, wide mouth with downturned corners, thin upper vermilion, and wide-spaced teeth. To date approximately 35 individuals with PACS1-NDD have been reported.
Intellectual developmental disorder with severe speech and ambulation defects
MedGen UID:
1682234
Concept ID:
C5193115
Disease or Syndrome
Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) is an autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech, and most cannot walk independently. Common dysmorphic features include prominent forehead and wide mouth (summary by Bell et al., 2019).
Liang-Wang syndrome
MedGen UID:
1684847
Concept ID:
C5231479
Disease or Syndrome
Liang-Wang syndrome (LIWAS) is a polymalformation syndrome apparent from birth that shows large phenotypic variability and severity. However, all patients have some degree of neurologic dysfunction. The most severely affected individuals have severe global developmental delay with impaired intellectual development and poor or absent speech, marked craniofacial dysmorphism, and visceral and connective tissue abnormalities affecting the bones and vessels. The least severely affected individuals lack seizures, significant dysmorphism, and visceral involvement; they come to attention for neurologic signs and symptoms, including developmental delay with speech delay, strabismus, and/or ataxia. About half of patients have brain imaging anomalies, notably cerebral and cerebellar atrophy and thin corpus callosum, whereas the other half have normal brain imaging (summary by Liang et al., 2019).
Cardioacrofacial dysplasia 1
MedGen UID:
1777656
Concept ID:
C5436885
Disease or Syndrome
Cardioacrofacial dysplasia-1 (CAFD1) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features (Palencia-Campos et al., 2020). Genetic Heterogeneity of Cardioacrofacial Dysplasia CAFD2 (619143) is caused by mutation in the PRKACB gene (176892) on chromosome 1p31.
Mucopolysaccharidosis, type 10
MedGen UID:
1794274
Concept ID:
C5562064
Disease or Syndrome
Mucopolysaccharidosis type X (MPS10) is an autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities (Verheyen et al., 2022).
Orofaciodigital syndrome 18
MedGen UID:
1799326
Concept ID:
C5567903
Disease or Syndrome
Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).
Hypogonadotropic hypogonadism 26 with or without anosmia
MedGen UID:
1811919
Concept ID:
C5676903
Disease or Syndrome
HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis (Davis et al., 2020). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950.
Atelis syndrome 2
MedGen UID:
1824055
Concept ID:
C5774282
Disease or Syndrome
Atelis syndrome-2 (ATELS2) is an autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Additional more variable features may include hematologic abnormalities, variable ocular abnormalities, motor delay, and anxiety. Patient cells exhibit a unique chromosomal instability phenotype consisting of segmented and dicentric chromosomes with mosaic variegated hyperploidy (Grange et al., 2022). See also ATELS1 (620184), caused by mutation in the SLF2 gene (610348). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).

Professional guidelines

PubMed

Lopes-Pinto M, Marques PL, Lacerda-Nobre E, Miceli D, Leal RO, Marques P
Growth Horm IGF Res 2024 Jun;76:101595. Epub 2024 May 24 doi: 10.1016/j.ghir.2024.101595. PMID: 38810595
Delli K, Livas C, Sculean A, Katsaros C, Bornstein MM
Quintessence Int 2013 Feb;44(2):177-87. doi: 10.3290/j.qi.a28925. PMID: 23444184
Huang WJ, Creath CJ
Pediatr Dent 1995 May-Jun;17(3):171-9. PMID: 7617490

Recent clinical studies

Etiology

Lopes-Pinto M, Marques PL, Lacerda-Nobre E, Miceli D, Leal RO, Marques P
Growth Horm IGF Res 2024 Jun;76:101595. Epub 2024 May 24 doi: 10.1016/j.ghir.2024.101595. PMID: 38810595
Geštakovski D
Quintessence Int 2019;50(9):712-719. doi: 10.3290/j.qi.a43089. PMID: 31482154
Wheeler B, Carrico CK, Shroff B, Brickhouse T, Laskin DM
J Oral Maxillofac Surg 2018 Apr;76(4):709-715. Epub 2017 Nov 22 doi: 10.1016/j.joms.2017.11.024. PMID: 29245001
Parrini S, Rossini G, Castroflorio T, Fortini A, Deregibus A, Debernardi C
Am J Orthod Dentofacial Orthop 2016 Nov;150(5):740-750. doi: 10.1016/j.ajodo.2016.06.022. PMID: 27871700
Sharma AA, Park JH
J Esthet Restor Dent 2010 Feb;22(1):18-28. doi: 10.1111/j.1708-8240.2009.00307.x. PMID: 20136942

Diagnosis

Lopes-Pinto M, Marques PL, Lacerda-Nobre E, Miceli D, Leal RO, Marques P
Growth Horm IGF Res 2024 Jun;76:101595. Epub 2024 May 24 doi: 10.1016/j.ghir.2024.101595. PMID: 38810595
Geštakovski D
Quintessence Int 2019;50(9):712-719. doi: 10.3290/j.qi.a43089. PMID: 31482154
Abraham R, Kamath G
Dent Update 2014 Jun;41(5):457-60, 462-4. doi: 10.12968/denu.2014.41.5.457. PMID: 25073229
Juneja A, Sultan A, Bhatnagar S
J Indian Soc Pedod Prev Dent 2012 Jul-Sep;30(3):250-3. doi: 10.4103/0970-4388.105019. PMID: 23263430
Topouzelis N, Iliopoulos C, Kolokitha OE
Int Dent J 2011 Apr;61(2):63-9. doi: 10.1111/j.1875-595X.2011.00015.x. PMID: 21554274Free PMC Article

Therapy

Valente MSO, Neto CF, Obeid AT, Furuse AY, Ishikiriama BLC, Ishikiriama SK, Velo MMAC
Gen Dent 2023 Sep-Oct;71(5):53-57. PMID: 37595084
Tanaka O, Vitral RWF, Miyoshi CS, Meira TM, Camargo ES, Pithon MM
Orthod Craniofac Res 2020 Nov;23(4):493-500. Epub 2020 Jul 7 doi: 10.1111/ocr.12401. PMID: 32542915
Akinboboye B, Umesi D, Ajayi Y
Int J Esthet Dent 2015 Winter;10(4):610-7. PMID: 26794056
Abraham R, Kamath G
Dent Update 2014 Jun;41(5):457-60, 462-4. doi: 10.12968/denu.2014.41.5.457. PMID: 25073229
Chu FC, Siu AS, Newsome PR, Wei SH
Gen Dent 2001 May-Jun;49(3):282-7; quiz 288-9. PMID: 12004728

Prognosis

Li K, Guilleminault C
Orthod Fr 2022 Dec 1;93(Suppl 1):35-46. doi: 10.1684/orthodfr.2022.87. PMID: 36704948
Ertuğrul CÇ, Özbey H, Gün AI
Eur J Paediatr Dent 2022 Jun;23(2):111-115. doi: 10.23804/ejpd.2022.23.02.04. PMID: 35722841
Pereira Rafael MA, Helvécio MJ, Tamara KT, Alencar Cassio JF, Cacio MN, Anna Carolina VM
J Indian Soc Pedod Prev Dent 2021 Apr-Jun;39(2):159-163. doi: 10.4103/jisppd.jisppd_397_20. PMID: 34341235
Korkut B, Türkmen C
J Esthet Restor Dent 2021 Jun;33(4):590-604. Epub 2020 Dec 23 doi: 10.1111/jerd.12697. PMID: 33354867
Geštakovski D
Quintessence Int 2019;50(9):712-719. doi: 10.3290/j.qi.a43089. PMID: 31482154

Clinical prediction guides

Lopes-Pinto M, Marques PL, Lacerda-Nobre E, Miceli D, Leal RO, Marques P
Growth Horm IGF Res 2024 Jun;76:101595. Epub 2024 May 24 doi: 10.1016/j.ghir.2024.101595. PMID: 38810595
Araújo CVDS, de Menezes CC, Santamaria-Jr M, Meneghim MC, Vedovello SAS
Orthod Craniofac Res 2023 Aug;26(3):331-337. Epub 2022 Oct 30 doi: 10.1111/ocr.12613. PMID: 36239659
Lombardo G, Vena F, Negri P, Pagano S, Barilotti C, Paglia L, Colombo S, Orso M, Cianetti S
Eur J Paediatr Dent 2020 Jun;21(2):115-122. doi: 10.23804/ejpd.2020.21.02.05. PMID: 32567942
Geštakovski D
Quintessence Int 2019;50(9):712-719. doi: 10.3290/j.qi.a43089. PMID: 31482154
Peterkova R, Hovorakova M, Peterka M, Lesot H
Aust Dent J 2014 Jun;59 Suppl 1(Suppl 1):55-80. Epub 2014 Feb 4 doi: 10.1111/adj.12130. PMID: 24495023Free PMC Article

Recent systematic reviews

Tadros S, Ben-Dov T, Catháin ÉÓ, Anglin C, April MM
Int J Pediatr Otorhinolaryngol 2022 May;156:111063. Epub 2022 Feb 26 doi: 10.1016/j.ijporl.2022.111063. PMID: 35248905
Lombardo G, Vena F, Negri P, Pagano S, Barilotti C, Paglia L, Colombo S, Orso M, Cianetti S
Eur J Paediatr Dent 2020 Jun;21(2):115-122. doi: 10.23804/ejpd.2020.21.02.05. PMID: 32567942
van der Weijden FN, Kuitert RB, Berkhout FRU, van der Weijden GA
J Orofac Orthop 2018 May;79(3):205-218. Epub 2018 Mar 12 doi: 10.1007/s00056-018-0128-2. PMID: 29532091Free PMC Article
Parrini S, Rossini G, Castroflorio T, Fortini A, Deregibus A, Debernardi C
Am J Orthod Dentofacial Orthop 2016 Nov;150(5):740-750. doi: 10.1016/j.ajodo.2016.06.022. PMID: 27871700
Delli K, Livas C, Sculean A, Katsaros C, Bornstein MM
Quintessence Int 2013 Feb;44(2):177-87. doi: 10.3290/j.qi.a28925. PMID: 23444184

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