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Microcephaly-cleft palate syndrome

MedGen UID:
419293
•Concept ID:
C2930954
•
Disease or Syndrome
Synonyms: Halal syndrome; Microcephaly cleft palate autosomal dominant
SNOMED CT: Microcephalus cleft palate syndrome (719394002); Microcephaly cleft palate syndrome (719394002); Halal syndrome (719394002)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016750
Orphanet: ORPHA2521

Definition

This syndrome is characterised by the combination of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goitre, camptodactyly, mild intellectual deficit, and abnormal dermatoglyphics. It has been described only once; in two sisters and their mother. Although microcephaly and intellectual deficit are frequently associated with cleft palate, the other features of these patients are in favour of this syndrome being an entity per se. The mode of inheritance is autosomal or X-linked dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephaly-cleft palate syndrome
Follow this link to review classifications for Microcephaly-cleft palate syndrome in Orphanet.

Professional guidelines

PubMed

Clinical practice guidelines for the diagnosis and management of otitis media with effusion (OME) in children in Japan - 2022 update.
Hidaka H, Ito M, Ikeda R, Kamide Y, Kuroki H, Nakano A, Yoshida H, Takahashi H, Iino Y, Harabuchi Y, Kobayashi H
Auris Nasus Larynx 2023 Oct;50(5):655-699. Epub 2022 Dec 27 doi: 10.1016/j.anl.2022.12.004. PMID: 36577619
Treacher Collins Syndrome: Genetics, Clinical Features and Management.
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R
Genes (Basel) 2021 Sep 9;12(9) doi: 10.3390/genes12091392. PMID: 34573374Free PMC Article
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Speech Outcomes and Velopharyngeal Function in Children Undergoing Submucous Cleft Palate Repair.
Álvarez Carvajal DC, Inostroza-Allende F, Geldres Meneses MB, Giugliano Villarroel C
J Craniofac Surg 2023 Sep 1;34(6):1766-1771. Epub 2023 Aug 1 doi: 10.1097/SCS.0000000000009570. PMID: 37526200
Sommerlad-Furlow modified palatoplasty: A retrospective study.
Huang H, Li J, Li C, Yin H, Wu M, Wang Y, Li Y, Yang C, Zeng N, Zheng Q, Shi B
J Craniomaxillofac Surg 2023 Apr;51(4):238-245. Epub 2023 Apr 14 doi: 10.1016/j.jcms.2023.04.004. PMID: 37164835
The technology of tongue and hard palate contact detection: a review.
Mat Zin S, Md Rasib SZ, Suhaimi FM, Mariatti M
Biomed Eng Online 2021 Feb 6;20(1):17. doi: 10.1186/s12938-021-00854-y. PMID: 33549118Free PMC Article
Palate re-repair revisited.
Sommerlad BC, Mehendale FV, Birch MJ, Sell D, Hattee C, Harland K
Cleft Palate Craniofac J 2002 May;39(3):295-307. doi: 10.1597/1545-1569_2002_039_0295_prrr_2.0.co_2. PMID: 12019005
Uvulopalatopharyngoplasty. One-year followup.
Conway W, Fujita S, Zorick F, Sicklesteel J, Roehrs T, Wittig R, Roth T
Chest 1985 Sep;88(3):385-7. doi: 10.1378/chest.88.3.385. PMID: 4028849

Diagnosis

The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Laugier-Hunziker-Baran syndrome.
Yago K, Tanaka Y, Asanami S
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Aug;106(2):e20-5. Epub 2008 May 9 doi: 10.1016/j.tripleo.2008.03.037. PMID: 18468464
Rapp-Hodgkin syndrome.
Kim G, Shin H
Dermatol Online J 2004 Nov 30;10(3):23. PMID: 15748593
Snoring.
Ellis PD
Clin Otolaryngol Allied Sci 1994 Aug;19(4):275-6. doi: 10.1111/j.1365-2273.1994.tb01230.x. PMID: 7994881
Rapp-Hodgkin ectodermal dysplasia.
O'Donnell BP, James WD
J Am Acad Dermatol 1992 Aug;27(2 Pt 2):323-6. doi: 10.1016/0190-9622(92)70191-h. PMID: 1517497

Therapy

Postoperative Management of Cleft Lip and Palate Surgery.
Raghavan U, Vijayadev V, Rao D, Ullas G
Facial Plast Surg 2018 Dec;34(6):605-611. Epub 2018 Dec 28 doi: 10.1055/s-0038-1676381. PMID: 30593076
Orthodontic treatment for prominent upper front teeth (Class II malocclusion) in children and adolescents.
Batista KB, Thiruvenkatachari B, Harrison JE, O'Brien KD
Cochrane Database Syst Rev 2018 Mar 13;3(3):CD003452. doi: 10.1002/14651858.CD003452.pub4. PMID: 29534303Free PMC Article
Cleft Lip and Palate Repair.
Gatti GL, Freda N, Giacomina A, Montemagni M, Sisti A
J Craniofac Surg 2017 Nov;28(8):1918-1924. doi: 10.1097/SCS.0000000000003820. PMID: 29088690
Non-speech oral motor treatment for children with developmental speech sound disorders.
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article
Myoclonus.
Espay AJ, Chen R
Continuum (Minneap Minn) 2013 Oct;19(5 Movement Disorders):1264-86. doi: 10.1212/01.CON.0000436156.54532.1a. PMID: 24092290

Prognosis

Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB
Cleft Palate Craniofac J 2021 Feb;58(2):237-243. Epub 2020 Aug 30 doi: 10.1177/1055665620949124. PMID: 32864997
Oronasal Fistula Risk After Palate Repair.
Pollard SH, Skirko JR, Dance D, Reinemer H, Yamashiro D, Lyon NF, Collingridge DS
Cleft Palate Craniofac J 2021 Jan;58(1):35-41. Epub 2020 Jun 23 doi: 10.1177/1055665620931707. PMID: 32573252
The ontogeny of Robin sequence.
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
The acoustics of snoring.
Pevernagie D, Aarts RM, De Meyer M
Sleep Med Rev 2010 Apr;14(2):131-44. Epub 2009 Aug 8 doi: 10.1016/j.smrv.2009.06.002. PMID: 19665907
Palate re-repair revisited.
Sommerlad BC, Mehendale FV, Birch MJ, Sell D, Hattee C, Harland K
Cleft Palate Craniofac J 2002 May;39(3):295-307. doi: 10.1597/1545-1569_2002_039_0295_prrr_2.0.co_2. PMID: 12019005

Clinical prediction guides

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.
Wang Y, Liu C, Hu R, Geng J, Lu J, Zhao X, Xiong Y, Wu J, Yin A
Orphanet J Rare Dis 2023 Sep 27;18(1):305. doi: 10.1186/s13023-023-02923-y. PMID: 37759207Free PMC Article
Oronasal Fistula Risk After Palate Repair.
Pollard SH, Skirko JR, Dance D, Reinemer H, Yamashiro D, Lyon NF, Collingridge DS
Cleft Palate Craniofac J 2021 Jan;58(1):35-41. Epub 2020 Jun 23 doi: 10.1177/1055665620931707. PMID: 32573252
Periderm: Life-cycle and function during orofacial and epidermal development.
Hammond NL, Dixon J, Dixon MJ
Semin Cell Dev Biol 2019 Jul;91:75-83. Epub 2017 Aug 10 doi: 10.1016/j.semcdb.2017.08.021. PMID: 28803895
The acoustics of snoring.
Pevernagie D, Aarts RM, De Meyer M
Sleep Med Rev 2010 Apr;14(2):131-44. Epub 2009 Aug 8 doi: 10.1016/j.smrv.2009.06.002. PMID: 19665907
Laugier-Hunziker-Baran syndrome.
Yago K, Tanaka Y, Asanami S
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2008 Aug;106(2):e20-5. Epub 2008 May 9 doi: 10.1016/j.tripleo.2008.03.037. PMID: 18468464

Recent systematic reviews

Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review.
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Feeding methods for children with cleft lip and/or palate: a systematic review.
Duarte GA, Ramos RB, Cardoso MC
Braz J Otorhinolaryngol 2016 Sep-Oct;82(5):602-9. Epub 2016 Mar 2 doi: 10.1016/j.bjorl.2015.10.020. PMID: 26997574Free PMC Article
Non-speech oral motor treatment for children with developmental speech sound disorders.
Lee AS, Gibbon FE
Cochrane Database Syst Rev 2015 Mar 25;2015(3):CD009383. doi: 10.1002/14651858.CD009383.pub2. PMID: 25805060Free PMC Article
Myofunctional Therapy to Treat Obstructive Sleep Apnea: A Systematic Review and Meta-analysis.
Camacho M, Certal V, Abdullatif J, Zaghi S, Ruoff CM, Capasso R, Kushida CA
Sleep 2015 May 1;38(5):669-75. doi: 10.5665/sleep.4652. PMID: 25348130Free PMC Article

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