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Craniofacial Abnormalities

MedGen UID:: 91281
•Concept ID:: C0376634
•: Congenital Abnormality

Synonyms:

Abnormalities, Craniofacial; Abnormality, Craniofacial; Craniofacial Abnormality

Definition

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCraniofacial Abnormalities

Phenotypic abnormality
- Abnormality of prenatal development or birth
  - Fetal anomaly
    - Congenital Systemic Disorder
      - Congenital anomaly of musculoskeletal system
        Craniofacial Abnormalities
        22q11 Deletion Syndrome
        DiGeorge syndrome
        Cleidocranial dysostosis
        Costello syndrome
        Craniosynostosis syndrome
        Acrocephalosyndactyly
        Acrocephalosyndactyly type I
        Carpenter syndrome
        Pfeiffer syndrome
        Saethre-Chotzen syndrome
        Coronal craniosynostosis
        Bicoronal synostosis
        Unicoronal synostosis
        Craniosynostosis 2
        Craniosynostosis 4
        Bilambdoid synostosis
        Unilambdoid synostosis
        Multiple suture craniosynostosis
        Pansynostosis
        Sagittal craniosynostosis
        Squamosal suture synostosis
        TCF12-related craniosynostosis
        TWIST1-related craniosynostosis
        Beare-Stevenson cutis gyrata syndrome
        Crouzon syndrome
        Crouzon syndrome-acanthosis nigricans syndrome
        Isolated coronal synostosis
        Jackson-Weiss syndrome
        Muenke syndrome
        Holoprosencephaly sequence
        Agnathia-otocephaly complex
        Alobar holoprosencephaly
        Chromosome 1q41-q42 deletion syndrome
        Ethmocephaly
        Hartsfield-Bixler-Demyer syndrome
        Holoprosencephaly 1
        Holoprosencephaly 2
        Holoprosencephaly 3
        Holoprosencephaly 4
        Holoprosencephaly 5
        Holoprosencephaly 6
        Holoprosencephaly 7
        Holoprosencephaly 8
        Holoprosencephaly 9
        Holoprosencephaly caudal dysgenesis
        Holoprosencephaly deletion 2p
        Holoprosencephaly ectrodactyly cleft lip palate
        Holoprosencephaly radial heart renal anomalies
        Holoprosencephaly, recurrent infections, and monocytosis
        Holoprosencephaly-craniosynostosis syndrome
        Holoprosencephaly-hypokinesia-congenital contractures syndrome
        Holoprosencephaly-postaxial polydactyly syndrome
        Lambotte syndrome
        Lobar holoprosencephaly
        Midline interhemispheric variant of holoprosencephaly
        NODAL-Related Holoprosencephaly
        Semilobar holoprosencephaly
        Septopreoptic holoprosencephaly
        Syntelencephaly
        Isolated congenital microcephaly
        Autosomal dominant primary microcephaly
        Autosomal recessive primary microcephaly
        Microcephalic primordial dwarfism due to ZNF335 deficiency
        Microcephaly 1, primary, autosomal recessive
        Microcephaly 11, primary, autosomal recessive
        Microcephaly 12, primary, autosomal recessive
        Microcephaly 13, primary, autosomal recessive
        Microcephaly 14, primary, autosomal recessive
        Microcephaly 15, primary, autosomal recessive
        Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
        Microcephaly 3, primary, autosomal recessive
        Microcephaly 4, primary, autosomal recessive
        Microcephaly 5, primary, autosomal recessive
        Microcephaly 6, primary, autosomal recessive
        Microcephaly 7, primary, autosomal recessive
        Microcephaly 8, primary, autosomal recessive
        Microcephaly 9, primary, autosomal recessive
        Porencephaly
        Acquired porencephaly
        Familial porencephaly
        Primary microcephaly
        Leprechaunism syndrome
        Loeys-Dietz syndrome
        Aneurysm-osteoarthritis syndrome
        Loeys-Dietz syndrome 1
        Loeys-Dietz syndrome 2
        Loeys-Dietz syndrome 4
        Loeys-Dietz Syndrome Type 1
        Maxillofacial Abnormalities
        Dentofacial Deformities
        Fibrous dysplasia of jaw
        Jaw Abnormalities
        Congenital prognathism
        Isolated Pierre-Robin syndrome
        Micrognathia
        Retrognathias
        Megalencephaly
        Acquired Macrocephaly
        Dysplastic megalencephaly
        Hemimegalencephaly
        Isolated megalencephaly
        Macrocephaly at birth
        Noonan syndrome
        Noonan syndrome 1
        Noonan syndrome 2
        Noonan syndrome 3
        Noonan syndrome 4
        Noonan syndrome 5
        Noonan syndrome 6
        Noonan syndrome 7
        Noonan syndrome 8
        Noonan syndrome 9
        Noonan syndrome 10
        Noonan syndrome 11
        Noonan syndrome 12
        Noonan syndrome 13
        Noonan syndrome with multiple lentigines
        LEOPARD syndrome 1
        LEOPARD syndrome 2
        LEOPARD syndrome 3
        Orofaciodigital syndrome
        Mohr syndrome
        Oral-facial-digital syndrome with short stature and brachymesophalangy
        Orofacial-digital syndrome III
        Orofacial-digital syndrome IV
        Orofaciodigital syndrome I
        Orofaciodigital syndrome IX
        Orofaciodigital syndrome type 6
        Orofaciodigital syndrome type 12
        Orofaciodigital syndrome type 13
        Orofaciodigital syndrome type 14
        Orofaciodigital syndrome V
        Orofaciodigital syndrome VIII
        Orofaciodigital syndrome X
        Orofaciodigital syndrome XI
        Platybasia
        Rubinstein-Taybi syndrome
        Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
        Rubinstein-Taybi syndrome due to CREBBP mutations
        Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
        Russell-Silver syndrome
        Silver-Russell syndrome 1
        Silver-Russell syndrome due to an imprinting defect of 11p15
        Silver-russell syndrome 2
        Silver-Russell syndrome 3
        Silver-russell syndrome 4
        Silver-Russell syndrome 5
        Silver-Russell syndrome due to 11p15 microduplication
        Silver-Russell syndrome due to 7p11.2p13 microduplication
        Silver-Russell syndrome due to a point mutation
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
        Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

Professional guidelines

PubMed

Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature.

Godzieba A, Smektała T, Dowgierd K, Sporniak-Tutak K, Kowalski J
Pediatr Ann 2021 May;50(5):e227-e231. Epub 2021 May 1 doi: 10.3928/19382359-20210415-01. PMID: 34044702

Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.

Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(2):187-205. doi: 10.1177/0194599818807917. PMID: 30921525

Clinical Practice Guideline: Tonsillectomy in Children (Update).

Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

See all (43)

Recent clinical studies

Etiology

Diversity and dysmorphology.

Kruszka P, Tekendo-Ngongang C, Muenke M
Curr Opin Pediatr 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. PMID: 31693576

Congenital Neck Masses.

Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417

Craniofacial malformations and the orthodontist.

Akram A, McKnight MM, Bellardie H, Beale V, Evans RD
Br Dent J 2015 Feb 16;218(3):129-41. doi: 10.1038/sj.bdj.2015.48. PMID: 25686430

Human facial dysostoses.

Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775

Elements of morphology: standard terminology for the head and face.

Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G
Am J Med Genet A 2009 Jan;149A(1):6-28. doi: 10.1002/ajmg.a.32612. PMID: 19125436 Free PMC Article

See all (1567)

Diagnosis

Treatment of infants with craniofacial malformations.

Wiechers C, Thjen T, Koos B, Reinert S, Poets CF
Arch Dis Child Fetal Neonatal Ed 2021 Jan;106(1):104-109. Epub 2020 May 14 doi: 10.1136/archdischild-2019-317890. PMID: 32409560

Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies.

Schock EN, Brugmann SA
Cold Spring Harb Perspect Biol 2017 Sep 1;9(9) doi: 10.1101/cshperspect.a028258. PMID: 28213462 Free PMC Article

Craniofacial anomalies.

Nagy L, Demke JC
Facial Plast Surg Clin North Am 2014 Nov;22(4):523-48. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.08.002. PMID: 25444726

Craniofacial syndromes.

Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828

Craniofacial fibrous dysplasia.

Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278

See all (2225)

Therapy

Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.

Clinical Practice Guideline: Tonsillectomy in Children (Update).

Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC
Otolaryngol Head Neck Surg 2019 Feb;160(1_suppl):S1-S42. doi: 10.1177/0194599818801757. PMID: 30798778

Acute Otitis Media in Children.

Leung AKC, Wong AHC
Recent Pat Inflamm Allergy Drug Discov 2017;11(1):32-40. doi: 10.2174/1874609810666170712145332. PMID: 28707578

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746 Free PMC Article

Turner syndrome: diagnosis and management.

Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

See all (426)

Prognosis

Holoprosencephaly.

Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B13-B16. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.178. PMID: 33168217

Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.

Congenital Neck Masses.

Quintanilla-Dieck L, Penn EB Jr
Clin Perinatol 2018 Dec;45(4):769-785. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.012. PMID: 30396417

Craniofacial fibrous dysplasia.

Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278

The prevalence of congenital anomalies in Europe.

Dolk H, Loane M, Garne E
Adv Exp Med Biol 2010;686:349-64. doi: 10.1007/978-90-481-9485-8_20. PMID: 20824455

See all (872)

Clinical prediction guides

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.

Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel CTRM, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM
PLoS Genet 2017 Oct;13(10):e1006864. Epub 2017 Oct 25 doi: 10.1371/journal.pgen.1006864. PMID: 29069077 Free PMC Article

Discovery, Diagnosis, and Etiology of Craniofacial Ciliopathies.

Schock EN, Brugmann SA
Cold Spring Harb Perspect Biol 2017 Sep 1;9(9) doi: 10.1101/cshperspect.a028258. PMID: 28213462 Free PMC Article

Craniofacial fibrous dysplasia.

Ricalde P, Magliocca KR, Lee JS
Oral Maxillofac Surg Clin North Am 2012 Aug;24(3):427-41. Epub 2012 Jul 6 doi: 10.1016/j.coms.2012.05.004. PMID: 22771278

Sotos syndrome.

Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104 Free PMC Article

See all (1067)

Recent systematic reviews

Clinical and epilepsy characteristics in Wolf-Hirschhorn syndrome (4p-): A review.

Paprocka J, Kaminiów K, Yetkin O, Tekturk P, Baykan B, Leiz S, Kluger G, Striano P
Seizure 2024 Mar;116:14-23. Epub 2022 Dec 8 doi: 10.1016/j.seizure.2022.12.001. PMID: 36526544

Tooth abnormalities associated with non-syndromic cleft lip and palate: systematic review and meta-analysis.

Fonseca-Souza G, de Oliveira LB, Wambier LM, Scariot R, Feltrin-Souza J
Clin Oral Investig 2022 Aug;26(8):5089-5103. Epub 2022 Jun 21 doi: 10.1007/s00784-022-04540-8. PMID: 35729285

Craniofacial and upper airway morphology in adult obstructive sleep apnea patients: A systematic review and meta-analysis of cephalometric studies.

Neelapu BC, Kharbanda OP, Sardana HK, Balachandran R, Sardana V, Kapoor P, Gupta A, Vasamsetti S
Sleep Med Rev 2017 Feb;31:79-90. Epub 2016 Jan 30 doi: 10.1016/j.smrv.2016.01.007. PMID: 27039222

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.

Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo MÁ, Rodríguez-Caballero Á, Machuca-Portillo G
Clin Anat 2016 Jul;29(5):555-60. Epub 2015 Dec 21 doi: 10.1002/ca.22654. PMID: 26457586

See all (33)

MedGen

National Center for Biotechnology Information

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Craniofacial Abnormalities

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

Related information

Recent activity