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Speech articulation difficulties

MedGen UID:
400736
Concept ID:
C1865313
Finding
Synonym: Difficulty with speech articulation
 
HPO: HP:0009088

Definition

Impairment in the physical production of speech sounds. [from HPO]

Conditions with this feature

Auriculocondylar syndrome 2
MedGen UID:
766318
Concept ID:
C3553404
Disease or Syndrome
Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is a craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).
Auriculocondylar syndrome 1
MedGen UID:
1639644
Concept ID:
C4551996
Disease or Syndrome
Other features of auriculo-condylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). These features vary, even among affected members of the same family.\n\nAbnormalities of the mandible are another characteristic feature of auriculo-condylar syndrome. These abnormalities often include an unusually small chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. The term "condylar" in the name of the condition refers to the mandibular condyle, which is the upper portion of the mandible that forms part of the TMJ.\n\nMost people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear," in which the ears have a distinctive question-mark shape caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in auriculo-condylar syndrome include cupped ears, ears with fewer folds and grooves than usual (described as "simple"), narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss.\n\nAuriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).

Professional guidelines

PubMed

Thurman AJ, Edgin JO, Sherman SL, Sterling A, McDuffie A, Berry-Kravis E, Hamilton D, Abbeduto L
J Neurodev Disord 2021 Apr 8;13(1):13. doi: 10.1186/s11689-021-09361-6. PMID: 33827417Free PMC Article
Chinnadurai S, Francis DO, Epstein RA, Morad A, Kohanim S, McPheeters M
Pediatrics 2015 Jun;135(6):e1467-74. Epub 2015 May 4 doi: 10.1542/peds.2015-0660. PMID: 25941312Free PMC Article
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article

Recent clinical studies

Etiology

Cordray H, Mahendran GN, Tey CS, Nemeth J, Raol N
Am J Speech Lang Pathol 2023 Nov 6;32(6):3048-3063. Epub 2023 Aug 22 doi: 10.1044/2023_AJSLP-23-00169. PMID: 37606583
Jethwa AR, Khariwala SS
Cancer Metastasis Rev 2017 Sep;36(3):411-423. doi: 10.1007/s10555-017-9689-6. PMID: 28801840Free PMC Article

Diagnosis

Jethwa AR, Khariwala SS
Cancer Metastasis Rev 2017 Sep;36(3):411-423. doi: 10.1007/s10555-017-9689-6. PMID: 28801840Free PMC Article

Therapy

Cordray H, Mahendran GN, Tey CS, Nemeth J, Raol N
Am J Speech Lang Pathol 2023 Nov 6;32(6):3048-3063. Epub 2023 Aug 22 doi: 10.1044/2023_AJSLP-23-00169. PMID: 37606583
Lorca-Puls DL, Gajardo-Vidal A, White J, Seghier ML, Leff AP, Green DW, Crinion JT, Ludersdorfer P, Hope TMH, Bowman H, Price CJ
Neuropsychologia 2018 Jul 1;115:101-111. Epub 2018 Mar 15 doi: 10.1016/j.neuropsychologia.2018.03.014. PMID: 29550526Free PMC Article
Jethwa AR, Khariwala SS
Cancer Metastasis Rev 2017 Sep;36(3):411-423. doi: 10.1007/s10555-017-9689-6. PMID: 28801840Free PMC Article

Clinical prediction guides

Cordray H, Mahendran GN, Tey CS, Nemeth J, Raol N
Am J Speech Lang Pathol 2023 Nov 6;32(6):3048-3063. Epub 2023 Aug 22 doi: 10.1044/2023_AJSLP-23-00169. PMID: 37606583
Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004309. PMID: 31604776Free PMC Article

Recent systematic reviews

Cordray H, Mahendran GN, Tey CS, Nemeth J, Raol N
Am J Speech Lang Pathol 2023 Nov 6;32(6):3048-3063. Epub 2023 Aug 22 doi: 10.1044/2023_AJSLP-23-00169. PMID: 37606583

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