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Oral motor hypotonia

MedGen UID:
868200
Concept ID:
C4022592
Finding
HPO: HP:0030190

Definition

Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Oral motor hypotonia

Conditions with this feature

Nephropathic cystinosis
MedGen UID:
419735
Concept ID:
C2931187
Disease or Syndrome
Cystinosis comprises three allelic phenotypes: Nephropathic cystinosis in untreated children is characterized by renal Fanconi syndrome, poor growth, hypophosphatemic/calcipenic rickets, impaired glomerular function resulting in complete glomerular failure, and accumulation of cystine in almost all cells, leading to cellular dysfunction with tissue and organ impairment. The typical untreated child has short stature, rickets, and photophobia. Failure to thrive is generally noticed after approximately age six months; signs of renal tubular Fanconi syndrome (polyuria, polydipsia, dehydration, and acidosis) appear as early as age six months; corneal crystals can be present before age one year and are always present after age 16 months. Prior to the use of renal transplantation and cystine-depleting therapy, the life span in nephropathic cystinosis was no longer than ten years. With these interventions, affected individuals can survive at least into the mid-forties or fifties with satisfactory quality of life. Intermediate cystinosis is characterized by all the typical manifestations of nephropathic cystinosis, but onset is at a later age. Renal glomerular failure occurs in all untreated affected individuals, usually between ages 15 and 25 years. The non-nephropathic (ocular) form of cystinosis is characterized clinically only by photophobia resulting from corneal cystine crystal accumulation.
Coffin-Siris syndrome 12
MedGen UID:
1782096
Concept ID:
C5444111
Disease or Syndrome
Coffin-Siris syndrome-12 (CSS12) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Affected individuals may have hypotonia and poor feeding in infancy. There are variable dysmorphic facial features, although most patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms of CSS (Barish et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).

Recent clinical studies

Etiology

Letertre O, Boccara O, Prey S, Pedespan JM, Boralevi F, Léauté-Labrèze C
J Eur Acad Dermatol Venereol 2022 Apr;36(4):610-614. Epub 2022 Jan 12 doi: 10.1111/jdv.17907. PMID: 35000215
Farpour HR, Moosavi SA, Mohammadian Z, Farpour S
Dysphagia 2022 Aug;37(4):966-972. Epub 2021 Aug 25 doi: 10.1007/s00455-021-10359-4. PMID: 34432140
Cohen-Levy J, Quintal MC, Rompré P, Almeida F, Huynh N
J Clin Sleep Med 2020 Aug 15;16(8):1357-1368. doi: 10.5664/jcsm.8534. PMID: 32356517Free PMC Article
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article
Wolters PL, Gropman AL, Martin SC, Smith MR, Hildenbrand HL, Brewer CC, Smith AC
Pediatr Neurol 2009 Oct;41(4):250-8. doi: 10.1016/j.pediatrneurol.2009.04.015. PMID: 19748044Free PMC Article

Diagnosis

Singh J, Dinkar A, Kumar N, Kumar K
Am J Med Sci 2023 May;365(5):462-469. Epub 2023 Feb 6 doi: 10.1016/j.amjms.2023.01.009. PMID: 36754148
Takeguchi R, Takahashi S, Akaba Y, Tanaka R, Nabatame S, Kurosawa K, Matsuishi T, Itoh M
J Neurol Sci 2021 Mar 15;422:117321. Epub 2021 Jan 19 doi: 10.1016/j.jns.2021.117321. PMID: 33516938
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article
Pizza F, Antelmi E, Vandi S, Meletti S, Erro R, Baumann CR, Bhatia KP, Dauvilliers Y, Edwards MJ, Iranzo A, Overeem S, Tinazzi M, Liguori R, Plazzi G
Sleep 2018 May 1;41(5) doi: 10.1093/sleep/zsy026. PMID: 29425380
Soblet J, Dimov I, Graf von Kalckreuth C, Cano-Chervel J, Baijot S, Pelc K, Sottiaux M, Vilain C, Smits G, Deconinck N
Am J Med Genet A 2018 Jan;176(1):201-208. Epub 2017 Sep 27 doi: 10.1002/ajmg.a.38479. PMID: 28960836Free PMC Article

Therapy

Letertre O, Boccara O, Prey S, Pedespan JM, Boralevi F, Léauté-Labrèze C
J Eur Acad Dermatol Venereol 2022 Apr;36(4):610-614. Epub 2022 Jan 12 doi: 10.1111/jdv.17907. PMID: 35000215
Vanderniet JA, Benitez-Aguirre PZ, Broderick CR, Kelley RI, Balasubramaniam S
J Pediatr Endocrinol Metab 2021 Jul 27;34(7):951-955. Epub 2021 Apr 13 doi: 10.1515/jpem-2020-0666. PMID: 33851526
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article
Schuurs-Hoeijmakers JH, Landsverk ML, Foulds N, Kukolich MK, Gavrilova RH, Greville-Heygate S, Hanson-Kahn A, Bernstein JA, Glass J, Chitayat D, Burrow TA, Husami A, Collins K, Wusik K, van der Aa N, Kooy F, Brown KT, Gadzicki D, Kini U, Alvarez S, Fernández-Jaén A, McGehee F, Selby K, Tarailo-Graovac M, Van Allen M, van Karnebeek CD, Stavropoulos DJ, Marshall CR, Merico D, Gregor A, Zweier C, Hopkin RJ, Chu YW, Chung BH, de Vries BB, Devriendt K, Hurles ME, Brunner HG; DDD study
Am J Med Genet A 2016 Mar;170(3):670-5. Epub 2016 Feb 3 doi: 10.1002/ajmg.a.37476. PMID: 26842493
Beltrand J, Elie C, Busiah K, Fournier E, Boddaert N, Bahi-Buisson N, Vera M, Bui-Quoc E, Ingster-Moati I, Berdugo M, Simon A, Gozalo C, Djerada Z, Flechtner I, Treluyer JM, Scharfmann R, Cavé H, Vaivre-Douret L, Polak M; GlidKir Study Group
Diabetes Care 2015 Nov;38(11):2033-41. Epub 2015 Oct 5 doi: 10.2337/dc15-0837. PMID: 26438614

Prognosis

Almutairi O, Almutairi HA, Al Rushood M
Am J Case Rep 2021 May 20;22:e930966. doi: 10.12659/AJCR.930966. PMID: 34014906Free PMC Article
Groeneweg S, Peeters RP, Moran C, Stoupa A, Auriol F, Tonduti D, Dica A, Paone L, Rozenkova K, Malikova J, van der Walt A, de Coo IFM, McGowan A, Lyons G, Aarsen FK, Barca D, van Beynum IM, van der Knoop MM, Jansen J, Manshande M, Lunsing RJ, Nowak S, den Uil CA, Zillikens MC, Visser FE, Vrijmoeth P, de Wit MCY, Wolf NI, Zandstra A, Ambegaonkar G, Singh Y, de Rijke YB, Medici M, Bertini ES, Depoorter S, Lebl J, Cappa M, De Meirleir L, Krude H, Craiu D, Zibordi F, Oliver Petit I, Polak M, Chatterjee K, Visser TJ, Visser WE
Lancet Diabetes Endocrinol 2019 Sep;7(9):695-706. Epub 2019 Jul 31 doi: 10.1016/S2213-8587(19)30155-X. PMID: 31377265Free PMC Article
Morgan AT, Haaften LV, van Hulst K, Edley C, Mei C, Tan TY, Amor D, Fisher SE, Koolen DA
Eur J Hum Genet 2018 Jan;26(1):75-84. Epub 2017 Dec 11 doi: 10.1038/s41431-017-0035-9. PMID: 29225339Free PMC Article
Bäckman B, Grevér-Sjölander AC, Holm AK, Johansson I
Int J Paediatr Dent 2003 Sep;13(5):327-35. doi: 10.1046/j.1365-263x.2003.00485.x. PMID: 12924988
Trauner DA, Fahmy RF, Mishler DA
Pediatr Neurol 2001 May;24(5):365-8. doi: 10.1016/s0887-8994(01)00268-5. PMID: 11516611

Clinical prediction guides

den Hollander B, Veenvliet ARJ, Rothuizen-Lindenschot M, van Essen P, Peters G, Santos-Gómez A, Olivella M, Altafaj X, Brands MM, Jacobs BAW, van Karnebeek CD
Mol Genet Metab 2023 Mar;138(3):107523. Epub 2023 Jan 21 doi: 10.1016/j.ymgme.2023.107523. PMID: 36758276
Cohen-Levy J, Quintal MC, Rompré P, Almeida F, Huynh N
J Clin Sleep Med 2020 Aug 15;16(8):1357-1368. doi: 10.5664/jcsm.8534. PMID: 32356517Free PMC Article
Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article
Peter B, Matsushita M, Oda K, Raskind W
Am J Med Genet A 2014 Aug;164A(8):2091-6. Epub 2014 May 8 doi: 10.1002/ajmg.a.36599. PMID: 24810580
Trauner DA, Fahmy RF, Mishler DA
Pediatr Neurol 2001 May;24(5):365-8. doi: 10.1016/s0887-8994(01)00268-5. PMID: 11516611

Recent systematic reviews

Harvey AR, Baker LB, Reddihough DS, Scheinberg A, Williams K
Cochrane Database Syst Rev 2018 May 15;5(5):CD012430. doi: 10.1002/14651858.CD012430.pub2. PMID: 29763510Free PMC Article

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