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Cleft hard palate

MedGen UID:
609341
Concept ID:
C0432090
Congenital Abnormality
Synonyms: Cleft bony palate; cleft hard palate; Cleft of hard palate
SNOMED CT: Cleft of hard palate (448915004)
 
HPO: HP:0410005
Monarch Initiative: MONDO:0015092
Orphanet: ORPHA101023

Conditions with this feature

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
MedGen UID:
934777
Concept ID:
C4310810
Disease or Syndrome
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Professional guidelines

PubMed

Bäumler M, Faure JM, Bigorre M, Bäumler-Patris C, Boulot P, Demattei C, Captier G
Ultrasound Obstet Gynecol 2011 Oct;38(4):440-4. Epub 2011 Aug 25 doi: 10.1002/uog.8933. PMID: 21936003
Millard DR Jr, Latham RA
Plast Reconstr Surg 1990 Nov;86(5):856-71. doi: 10.1097/00006534-199011000-00006. PMID: 2236311

Recent clinical studies

Etiology

Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ
HGG Adv 2023 Oct 12;4(4):100234. Epub 2023 Aug 25 doi: 10.1016/j.xhgg.2023.100234. PMID: 37719664Free PMC Article
Gindes L, Weissmann-Brenner A, Zajicek M, Weisz B, Shrim A, Tzadikevitch Geffen K, Mendes D, Kuint J, Berkenstadt M, Achiron R
Prenat Diagn 2013 May;33(5):436-41. Epub 2013 Mar 12 doi: 10.1002/pd.4083. PMID: 23494892
Bäumler M, Faure JM, Bigorre M, Bäumler-Patris C, Boulot P, Demattei C, Captier G
Ultrasound Obstet Gynecol 2011 Oct;38(4):440-4. Epub 2011 Aug 25 doi: 10.1002/uog.8933. PMID: 21936003
Ferdous KM, Salek AJ, Islam MK, Das BK, Khan AR, Karim MS
Pediatr Surg Int 2010 Oct;26(10):995-1000. doi: 10.1007/s00383-010-2643-0. PMID: 20842387

Diagnosis

Gindes L, Weissmann-Brenner A, Zajicek M, Weisz B, Shrim A, Tzadikevitch Geffen K, Mendes D, Kuint J, Berkenstadt M, Achiron R
Prenat Diagn 2013 May;33(5):436-41. Epub 2013 Mar 12 doi: 10.1002/pd.4083. PMID: 23494892
Rozendaal AM, Luijsterburg AJ, Mohangoo AD, Ongkosuwito EM, de Vries E, Vermeij-Keers C
Cleft Palate Craniofac J 2012 Sep;49(5):609-17. Epub 2010 Nov 23 doi: 10.1597/10-109. PMID: 21091368
Bäumler M, Faure JM, Bigorre M, Bäumler-Patris C, Boulot P, Demattei C, Captier G
Ultrasound Obstet Gynecol 2011 Oct;38(4):440-4. Epub 2011 Aug 25 doi: 10.1002/uog.8933. PMID: 21936003
Asamoah A, Nwankwo M, Kumar SP, Ezhuthachan SG, Van Dyke DL
Am J Med Genet A 2004 May 15;127A(1):65-68. doi: 10.1002/ajmg.a.20626. PMID: 15103720

Therapy

Rozendaal AM, Luijsterburg AJ, Mohangoo AD, Ongkosuwito EM, de Vries E, Vermeij-Keers C
Cleft Palate Craniofac J 2012 Sep;49(5):609-17. Epub 2010 Nov 23 doi: 10.1597/10-109. PMID: 21091368

Prognosis

Gindes L, Weissmann-Brenner A, Zajicek M, Weisz B, Shrim A, Tzadikevitch Geffen K, Mendes D, Kuint J, Berkenstadt M, Achiron R
Prenat Diagn 2013 May;33(5):436-41. Epub 2013 Mar 12 doi: 10.1002/pd.4083. PMID: 23494892
Bäumler M, Faure JM, Bigorre M, Bäumler-Patris C, Boulot P, Demattei C, Captier G
Ultrasound Obstet Gynecol 2011 Oct;38(4):440-4. Epub 2011 Aug 25 doi: 10.1002/uog.8933. PMID: 21936003
Ferdous KM, Salek AJ, Islam MK, Das BK, Khan AR, Karim MS
Pediatr Surg Int 2010 Oct;26(10):995-1000. doi: 10.1007/s00383-010-2643-0. PMID: 20842387

Clinical prediction guides

Aljodah MA, Al-Zajrawee MZ
Braz J Otorhinolaryngol 2022 Jan-Feb;88(1):22-27. Epub 2020 May 5 doi: 10.1016/j.bjorl.2020.04.003. PMID: 32471790Free PMC Article
Gindes L, Weissmann-Brenner A, Zajicek M, Weisz B, Shrim A, Tzadikevitch Geffen K, Mendes D, Kuint J, Berkenstadt M, Achiron R
Prenat Diagn 2013 May;33(5):436-41. Epub 2013 Mar 12 doi: 10.1002/pd.4083. PMID: 23494892
Bäumler M, Faure JM, Bigorre M, Bäumler-Patris C, Boulot P, Demattei C, Captier G
Ultrasound Obstet Gynecol 2011 Oct;38(4):440-4. Epub 2011 Aug 25 doi: 10.1002/uog.8933. PMID: 21936003

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