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Hypoplastic philtrum

MedGen UID:
341641
Concept ID:
C1856886
Finding
Synonym: Small philtrum
 
HPO: HP:0005326

Definition

Underdevelopment of the philtrum. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplastic philtrum

Conditions with this feature

Seizures-scoliosis-macrocephaly syndrome
MedGen UID:
909039
Concept ID:
C4225248
Disease or Syndrome
Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from early infancy, impaired intellectual development, behavioral problems, poor or absent speech, seizures, dysmorphic facial features with macro- or microcephaly, and skeletal abnormalities, including scoliosis and delayed bone age. Other features may include hypotonia, gastrointestinal problems, and exostoses (summary by Gentile et al., 2019).
Intellectual disability-hypotonic facies syndrome, X-linked, 1
MedGen UID:
1676827
Concept ID:
C4759781
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.
Periventricular nodular heterotopia 9
MedGen UID:
1718470
Concept ID:
C5394503
Disease or Syndrome
Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by Heinzen et al., 2018, Walters et al., 2018). For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see 300049.
Microcephaly 29, primary, autosomal recessive
MedGen UID:
1823993
Concept ID:
C5774220
Disease or Syndrome
Autosomal recessive primary microcephaly-29 (MCPH29) is characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Affected individuals also have poor overall growth with short stature, mild dysmorphic facial features, and seizures (Khan et al., 2020). For a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200).

Professional guidelines

PubMed

Aldridge N, Pandya P, Rankin J, Miller N, Broughan J, Permalloo N, McHugh A, Stevens S
BJOG 2023 Jan;130(1):51-58. Epub 2022 Sep 12 doi: 10.1111/1471-0528.17287. PMID: 36054171
Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y
Clin Genet 2018 Feb;93(2):320-328. Epub 2017 Dec 27 doi: 10.1111/cge.13158. PMID: 29044489
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E
Orphanet J Rare Dis 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. PMID: 22236771Free PMC Article

Recent clinical studies

Etiology

Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C
JAMA Dermatol 2024 May 1;160(5):544-549. doi: 10.1001/jamadermatol.2024.0065. PMID: 38506824Free PMC Article
Sander AK, Grau E, Bartella AK, Kloss-Brandstätter A, Neuhaus M, Zimmerer R, Lethaus B
BMC Oral Health 2022 Dec 1;22(1):553. doi: 10.1186/s12903-022-02606-3. PMID: 36457084Free PMC Article
Wlodarczyk JR, Brannon B, Munabi NCO, Wolfswinkel EM, Nagengast ES, Yao CA, Magee W 3rd
J Craniofac Surg 2021 Mar-Apr 01;32(2):647-651. doi: 10.1097/SCS.0000000000007029. PMID: 33705001
Tang IW, Langlois PH, Vieira VM
Environ Res 2021 Mar;194:110511. Epub 2020 Nov 24 doi: 10.1016/j.envres.2020.110511. PMID: 33245885
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229

Diagnosis

Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Corona-Rivera JR, Zapata-Aldana E, Bobadilla-Morales L, Corona-Rivera A, Peña-Padilla C, Solis-Hernández E, Guzmán C, Richmond E, Zahl C, Zenker M, Sukalo M
Am J Med Genet A 2016 Jun;170(6):1495-501. Epub 2016 Mar 17 doi: 10.1002/ajmg.a.37630. PMID: 26989884
Kosho T
Pediatr Int 2016 Feb;58(2):88-99. doi: 10.1111/ped.12878. PMID: 26646600
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764

Therapy

Bakker MK, Loane M, Garne E, Ballardini E, Cavero-Carbonell C, García L, Gissler M, Given J, Heino A, Jamry-Dziurla A, Jordan S, Urhoj SK, Latos-Bieleńska A, Limb E, Lutke R, Neville AJ, Pierini A, Santoro M, Scanlon I, Tan J, Wellesley D, de Walle HEK, Morris JK
Eur J Epidemiol 2023 Mar;38(3):325-334. Epub 2023 Feb 18 doi: 10.1007/s10654-023-00971-z. PMID: 36807730Free PMC Article
Kloukos D, Fudalej P, Sequeira-Byron P, Katsaros C
Cochrane Database Syst Rev 2018 Aug 10;8(8):CD010403. doi: 10.1002/14651858.CD010403.pub3. PMID: 30095853Free PMC Article
Perez-Aytes A, Marin-Reina P, Boso V, Ledo A, Carey JC, Vento M
Eur J Med Genet 2017 Jan;60(1):16-21. Epub 2016 Sep 14 doi: 10.1016/j.ejmg.2016.09.014. PMID: 27639443
Goldberg O, Moretti M, Levy A, Koren G
J Obstet Gynaecol Can 2015 Feb;37(2):150-156. doi: 10.1016/S1701-2163(15)30337-6. PMID: 25767948
Mølgaard-Nielsen D, Pasternak B, Hviid A
N Engl J Med 2013 Aug 29;369(9):830-9. doi: 10.1056/NEJMoa1301066. PMID: 23984730

Prognosis

Bakker MK, Loane M, Garne E, Ballardini E, Cavero-Carbonell C, García L, Gissler M, Given J, Heino A, Jamry-Dziurla A, Jordan S, Urhoj SK, Latos-Bieleńska A, Limb E, Lutke R, Neville AJ, Pierini A, Santoro M, Scanlon I, Tan J, Wellesley D, de Walle HEK, Morris JK
Eur J Epidemiol 2023 Mar;38(3):325-334. Epub 2023 Feb 18 doi: 10.1007/s10654-023-00971-z. PMID: 36807730Free PMC Article
Sander AK, Grau E, Bartella AK, Kloss-Brandstätter A, Neuhaus M, Zimmerer R, Lethaus B
BMC Oral Health 2022 Dec 1;22(1):553. doi: 10.1186/s12903-022-02606-3. PMID: 36457084Free PMC Article
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174
Murali CN, Keena B, Zackai EH
Clin Dysmorphol 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. PMID: 29864040Free PMC Article
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free PMC Article

Clinical prediction guides

Krämer S, Hillebrecht AL, Wang Y, Badea MA, Barrios JI, Danescu S, Fuentes I, Kartal D, Klausegger A, Ponce de León E, Schilke R, Yordanova I, Bloch-Zupan A, Has C
JAMA Dermatol 2024 May 1;160(5):544-549. doi: 10.1001/jamadermatol.2024.0065. PMID: 38506824Free PMC Article
Zhang Z, Lu Y, Cao JY, Wang L, Li LK, Wang C, Ye X, Ji YM, Tu LY, Sun Y
Mol Genet Genomic Med 2022 May;10(5):e1933. Epub 2022 Mar 25 doi: 10.1002/mgg3.1933. PMID: 35332702Free PMC Article
Eker HK
Childs Nerv Syst 2021 May;37(5):1779-1784. Epub 2020 Aug 18 doi: 10.1007/s00381-020-04843-9. PMID: 32809063
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174
Le Merrer M, Cikuli M, Ribier J, Briard ML
Am J Med Genet 1989 Jul;33(3):318-22. doi: 10.1002/ajmg.1320330307. PMID: 2801764

Recent systematic reviews

Celie KB, Wlodarczyk J, Naidu P, Tapia MF, Nagengast E, Yao C, Magee W 3rd
Cleft Palate Craniofac J 2024 Jan;61(1):20-32. Epub 2022 Jul 25 doi: 10.1177/10556656221116005. PMID: 35876322
Kaur H, Grover S, Singaraju GS, Sidhu MS, Jaglan A, Dogra N
J Stomatol Oral Maxillofac Surg 2023 Feb;124(1S):101308. Epub 2022 Oct 8 doi: 10.1016/j.jormas.2022.10.007. PMID: 36220549
Picot C, Berard A, Grenet G, Ripoche E, Cucherat M, Cottin J
Birth Defects Res 2020 Aug;112(13):996-1013. Epub 2020 May 18 doi: 10.1002/bdr2.1705. PMID: 32420702
Kloukos D, Fudalej P, Sequeira-Byron P, Katsaros C
Cochrane Database Syst Rev 2018 Aug 10;8(8):CD010403. doi: 10.1002/14651858.CD010403.pub3. PMID: 30095853Free PMC Article
Goldberg O, Moretti M, Levy A, Koren G
J Obstet Gynaecol Can 2015 Feb;37(2):150-156. doi: 10.1016/S1701-2163(15)30337-6. PMID: 25767948

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