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Squamosal suture synostosis

MedGen UID:
1863703
Concept ID:
C5937367
Disease or Syndrome
HPO: HP:6000612

Definition

Premature closure of the squamosal suture, which is one of the lateral minor skull sutures, separating the parietal and squamous temporal bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSquamosal suture synostosis

Conditions with this feature

Treacher Collins syndrome
MedGen UID:
66078
Concept ID:
C0242387
Disease or Syndrome
Treacher Collins syndrome (TCS) is characterized by lower eyelid abnormalities, malar hypoplasia, downslanted palpebral fissures, and micro- or retrognathia due to symmetric hypoplasia of the zygomatic bones, maxilla, and mandible. External ear anomalies include absent, small, malformed, and/or posteriorly rotated ears and atresia or stenosis of the external auditory canals. About 40%-50% of individuals have conductive hearing loss attributed most commonly to malformation of the ossicles and hypoplasia of the middle ear cavities. Inner ear structures tend to be normal. Significant respiratory and feeding difficulties can be present in infancy. Other, less common abnormalities include cleft palate and unilateral or bilateral choanal stenosis or atresia. Typically, intellect is normal.

Recent clinical studies

Etiology

W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Leikola J, Heliövaara A, Koivikko M, Koljonen V
Childs Nerv Syst 2019 Feb;35(2):205-207. Epub 2019 Jan 7 doi: 10.1007/s00381-018-04029-4. PMID: 30617575Free PMC Article
Murphy BD, Ajabshir N, Altman N, Wolfe SA, Perlyn C
J Craniofac Surg 2017 Jul;28(5):1179-1184. doi: 10.1097/SCS.0000000000003603. PMID: 28538065
Eley KA, Thomas GP, Sheerin F, Cilliers D, Wall S, Johnson D
J Craniofac Surg 2016 Sep;27(6):1543-9. doi: 10.1097/SCS.0000000000002888. PMID: 27438438
Smartt JM Jr, Singh DJ, Reid RR, Hellinger JC, Hsu VM, Bartlett SP
Plast Reconstr Surg 2012 Jul;130(1):165-176. doi: 10.1097/PRS.0b013e318254b271. PMID: 22418716

Diagnosis

W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Cho DY, Evans KN, Weed MC, Lee A, Susarla SM
World Neurosurg 2020 Jun;138:344-348. Epub 2020 Mar 23 doi: 10.1016/j.wneu.2020.03.079. PMID: 32217173
Murphy BD, Ajabshir N, Altman N, Wolfe SA, Perlyn C
J Craniofac Surg 2017 Jul;28(5):1179-1184. doi: 10.1097/SCS.0000000000003603. PMID: 28538065
Eley KA, Thomas GP, Sheerin F, Cilliers D, Wall S, Johnson D
J Craniofac Surg 2016 Sep;27(6):1543-9. doi: 10.1097/SCS.0000000000002888. PMID: 27438438

Prognosis

W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Murphy BD, Ajabshir N, Altman N, Wolfe SA, Perlyn C
J Craniofac Surg 2017 Jul;28(5):1179-1184. doi: 10.1097/SCS.0000000000003603. PMID: 28538065
Chieffe D, Naffaa L, Doumit G
J Craniofac Surg 2017 Jan;28(1):51-55. doi: 10.1097/SCS.0000000000003184. PMID: 27831981
Smartt JM Jr, Singh DJ, Reid RR, Hellinger JC, Hsu VM, Bartlett SP
Plast Reconstr Surg 2012 Jul;130(1):165-176. doi: 10.1097/PRS.0b013e318254b271. PMID: 22418716

Clinical prediction guides

Chieffe D, Naffaa L, Doumit G
J Craniofac Surg 2017 Jan;28(1):51-55. doi: 10.1097/SCS.0000000000003184. PMID: 27831981

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