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Pursed lips

MedGen UID:
371254
Concept ID:
C1832130
Finding
Synonym: Tightly closed lips
 
HPO: HP:0000205

Definition

An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. [from HPO]

Conditions with this feature

Freeman-Sheldon syndrome
MedGen UID:
120516
Concept ID:
C0265224
Disease or Syndrome
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Hypomandibular faciocranial dysostosis
MedGen UID:
343427
Concept ID:
C1855848
Congenital Abnormality
Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001).
Congenital contractures of the limbs and face, hypotonia, and developmental delay
MedGen UID:
907234
Concept ID:
C4225398
Disease or Syndrome
CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).
Schwartz-Jampel syndrome type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).
Arthrogryposis, distal, type 1C
MedGen UID:
1722257
Concept ID:
C5436834
Disease or Syndrome
Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020).
Stüve-Wiedemann syndrome 1
MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11.

Professional guidelines

PubMed

Tannheimer M, Lechner R
Int J Environ Res Public Health 2022 Dec 3;19(23) doi: 10.3390/ijerph192316185. PMID: 36498257Free PMC Article
Schloesser K, Eisenmann Y, Bergmann A, Simon ST
J Pain Symptom Manage 2021 May;61(5):963-973.e1. Epub 2020 Sep 28 doi: 10.1016/j.jpainsymman.2020.09.034. PMID: 33002596
Roberts SE, Schreuder FM, Watson T, Stern M
Physiotherapy 2017 Dec;103(4):465-470. Epub 2016 May 27 doi: 10.1016/j.physio.2016.05.006. PMID: 27623386

Recent clinical studies

Etiology

Illidi CR, Romer LM, Johnson MA, Williams NC, Rossiter HB, Casaburi R, Tiller NB
Eur J Appl Physiol 2023 Aug;123(8):1599-1625. Epub 2023 Mar 14 doi: 10.1007/s00421-023-05166-8. PMID: 36917254Free PMC Article
Ceyhan Y, Tekinsoy Kartin P
Trials 2022 Aug 26;23(1):707. doi: 10.1186/s13063-022-06603-3. PMID: 36028881Free PMC Article
Yang Y, Wei L, Wang S, Ke L, Zhao H, Mao J, Li J, Mao Z
Physiother Theory Pract 2022 Jul;38(7):847-857. Epub 2020 Aug 18 doi: 10.1080/09593985.2020.1805834. PMID: 32808571
Macêdo TM, Freitas DA, Chaves GS, Holloway EA, Mendonça KM
Cochrane Database Syst Rev 2016 Apr 12;4(4):CD011017. doi: 10.1002/14651858.CD011017.pub2. PMID: 27070225Free PMC Article
Fagevik Olsén M, Lannefors L, Westerdahl E
Respir Med 2015 Mar;109(3):297-307. Epub 2014 Nov 12 doi: 10.1016/j.rmed.2014.11.003. PMID: 25573419

Diagnosis

Gholamrezaei A, Van Diest I, Aziz Q, Vlaeyen JWS, Van Oudenhove L
Psychophysiology 2021 Feb;58(2):e13712. Epub 2020 Oct 27 doi: 10.1111/psyp.13712. PMID: 33111377
Jünger C, Reimann M, Krabbe L, Gaede KI, Lange C, Herzmann C, Rüller S
PLoS One 2020;15(9):e0238619. Epub 2020 Sep 21 doi: 10.1371/journal.pone.0238619. PMID: 32956395Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Mahler DA
Clin Geriatr Med 2017 Nov;33(4):503-521. Epub 2017 Jul 17 doi: 10.1016/j.cger.2017.06.004. PMID: 28991647
Garrod R, Mathieson T
Chron Respir Dis 2013 Feb;10(1):3-4. doi: 10.1177/1479972312472689. PMID: 23355402

Therapy

Ceyhan Y, Tekinsoy Kartin P
Trials 2022 Aug 26;23(1):707. doi: 10.1186/s13063-022-06603-3. PMID: 36028881Free PMC Article
Yang Y, Wei L, Wang S, Ke L, Zhao H, Mao J, Li J, Mao Z
Physiother Theory Pract 2022 Jul;38(7):847-857. Epub 2020 Aug 18 doi: 10.1080/09593985.2020.1805834. PMID: 32808571
Mayer AF, Karloh M, Dos Santos K, de Araujo CLP, Gulart AA
Physiotherapy 2018 Mar;104(1):9-17. Epub 2017 Aug 31 doi: 10.1016/j.physio.2017.08.007. PMID: 28969859
Macêdo TM, Freitas DA, Chaves GS, Holloway EA, Mendonça KM
Cochrane Database Syst Rev 2016 Apr 12;4(4):CD011017. doi: 10.1002/14651858.CD011017.pub2. PMID: 27070225Free PMC Article
Tiep B, Carter R, Zachariah F, Williams AC, Horak D, Barnett M, Dunham R
Expert Rev Respir Med 2013 Oct;7(5):479-90. doi: 10.1586/17476348.2013.816565. PMID: 24138692

Prognosis

Azola A, Palmer J, Mulheren R, Hofer R, Fischmeister F, Fitch WT
J Appl Physiol (1985) 2018 Jan 1;124(1):34-39. Epub 2017 Aug 24 doi: 10.1152/japplphysiol.00902.2016. PMID: 28839006Free PMC Article
Mahler DA
Clin Geriatr Med 2017 Nov;33(4):503-521. Epub 2017 Jul 17 doi: 10.1016/j.cger.2017.06.004. PMID: 28991647
Nield M, Hoo GW
COPD 2012 Dec;9(6):611-9. Epub 2012 Sep 4 doi: 10.3109/15412555.2012.708067. PMID: 22946768
Visser FJ, Ramlal S, Dekhuijzen PN, Heijdra YF
Respiration 2011;81(5):372-8. Epub 2010 Jul 17 doi: 10.1159/000319036. PMID: 20639621
Spahija J, de Marchie M, Grassino A
Chest 2005 Aug;128(2):640-50. doi: 10.1378/chest.128.2.640. PMID: 16100149

Clinical prediction guides

Ceyhan Y, Tekinsoy Kartin P
Trials 2022 Aug 26;23(1):707. doi: 10.1186/s13063-022-06603-3. PMID: 36028881Free PMC Article
Jünger C, Reimann M, Krabbe L, Gaede KI, Lange C, Herzmann C, Rüller S
PLoS One 2020;15(9):e0238619. Epub 2020 Sep 21 doi: 10.1371/journal.pone.0238619. PMID: 32956395Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Mendes LP, Moraes KS, Hoffman M, Vieira DS, Ribeiro-Samora GA, Lage SM, Britto RR, Parreira VF
Respir Care 2019 Feb;64(2):136-144. Epub 2018 Aug 28 doi: 10.4187/respcare.06319. PMID: 30154127
Spahija JA, Grassino A
J Appl Physiol (1985) 1996 May;80(5):1772-84. doi: 10.1152/jappl.1996.80.5.1772. PMID: 8727566

Recent systematic reviews

Yang Y, Wei L, Wang S, Ke L, Zhao H, Mao J, Li J, Mao Z
Physiother Theory Pract 2022 Jul;38(7):847-857. Epub 2020 Aug 18 doi: 10.1080/09593985.2020.1805834. PMID: 32808571
Mayer AF, Karloh M, Dos Santos K, de Araujo CLP, Gulart AA
Physiotherapy 2018 Mar;104(1):9-17. Epub 2017 Aug 31 doi: 10.1016/j.physio.2017.08.007. PMID: 28969859
Macêdo TM, Freitas DA, Chaves GS, Holloway EA, Mendonça KM
Cochrane Database Syst Rev 2016 Apr 12;4(4):CD011017. doi: 10.1002/14651858.CD011017.pub2. PMID: 27070225Free PMC Article
Martín-Valero R, De La Casa Almeida M, Casuso-Holgado MJ, Heredia-Madrazo A
Respir Care 2015 Nov;60(11):1652-9. doi: 10.4187/respcare.03981. PMID: 26493591

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