Craniofacial abnormality

Craniofacial abnormality
Craniofacial abnormality
	Human skull
Specialty	Medical genetics

Last updated January 30, 2026

Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones.^[1]

List of conditions

Platybasia
Arrhinia - absence of the nose
Craniosynostosis - premature fusion of the cranial sutures
Cyclopia - one eye
Mobius syndrome - paralysis of the facial muscles

References

↑ "WHO – Craniofacial abnormalities". Archived from the original on August 23, 2004.
↑ "Craniofacial Abnormalities: Congenital Craniofacial and Musculoskeletal Abnormalities: Merck Manual Professional".
↑ Posnick, Jeffrey C. (September 2013). Orthognatic Surgery: Principles and Practice. Amsterdam: Elsevier. pp. 61–68. doi:10.1016/B978-1-4557-2698-1.00003-4. ISBN 978-145572698-1.
↑ Harrington C, Gallagher JR, Borzabadi-Farahani A (2015). "A retrospective analysis of dentofacial deformities and orthognathic surgeries using the index of orthognathic functional treatment needs (IOFTN)". Int J Pediatr Otorhinolaryngol. 79 (7): 1063–6. doi:10.1016/j.ijporl.2015.04.027. PMID 25957779.
↑ Borzabadi-Farahani A, Eslamipour F, Shahmoradi M (2016). "Functional needs of subjects with dentofacial deformities: A study using the index of orthognathic functional treatment need (IOFTN)". J Plast Reconstr Aesthet Surg. 69 (6): 796–801. doi:10.1016/j.bjps.2016.03.008. PMID 27068664.

External links

This human musculoskeletal system article is a stub. You can help Wikipedia by adding missing information.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[urlWHO_|_Craniofacial_abnormalities-1] "WHO – Craniofacial abnormalities". Archived from the original on August 23, 2004.

[urlCraniofacial_Abnormalities:_Congenital_Craniofacial_and_Musculoskeletal_Abnormalities:_Merck_Manual_Professional-2] "Craniofacial Abnormalities: Congenital Craniofacial and Musculoskeletal Abnormalities: Merck Manual Professional".

[3] Posnick, Jeffrey C. (September 2013). Orthognatic Surgery: Principles and Practice. Amsterdam: Elsevier. pp. 61–68. doi:10.1016/B978-1-4557-2698-1.00003-4. ISBN 978-145572698-1.

[4] Harrington C, Gallagher JR, Borzabadi-Farahani A (2015). "A retrospective analysis of dentofacial deformities and orthognathic surgeries using the index of orthognathic functional treatment needs (IOFTN)". Int J Pediatr Otorhinolaryngol. 79 (7): 1063–6. doi:10.1016/j.ijporl.2015.04.027. PMID 25957779.

[5] Borzabadi-Farahani A, Eslamipour F, Shahmoradi M (2016). "Functional needs of subjects with dentofacial deformities: A study using the index of orthognathic functional treatment need (IOFTN)". J Plast Reconstr Aesthet Surg. 69 (6): 796–801. doi:10.1016/j.bjps.2016.03.008. PMID 27068664.

[1]

[2]

[3]

[4]

[5]

v t e Congenital abnormality syndromes
Craniofacial	Acrocephalosyndactyly Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome Bonnet–Dechaume–Blanc syndrome Other Baller–Gerold syndrome Cyclopia Goldenhar syndrome Moebius syndrome Pierre Robin sequence
Short stature	1q21.1 deletion syndrome Aarskog–Scott syndrome Cockayne syndrome Cornelia de Lange syndrome Dubowitz syndrome Noonan syndrome Robinow syndrome Silver–Russell syndrome Seckel syndrome Smith–Lemli–Opitz syndrome Snyder–Robinson syndrome Turner syndrome Meier-Gorlin syndrome
Limbs	Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay syndrome Nail–patella syndrome Rubinstein–Taybi syndrome Gastrulation/mesoderm: Caudal regression syndrome Ectromelia Sirenomelia VACTERL association
Overgrowth syndromes	Bannayan–Riley–Ruvalcaba syndrome Beckwith–Wiedemann syndrome Benign symmetric lipomatosis Klippel–Trénaunay syndrome Neurofibromatosis type I Perlman syndrome Proteus syndrome Sotos syndrome Tatton-Brown–Rahman syndrome Weaver syndrome
Laurence–Moon–Bardet–Biedl	Bardet–Biedl syndrome Laurence–Moon syndrome
Combined/other, known locus	2 (Feingold syndrome) 3 (Zimmermann–Laband syndrome) 4/13 (Fraser syndrome) 8 (Branchio-oto-renal syndrome, CHARGE syndrome) 12 (CACNA1C-related disorders, Keutel syndrome, Timothy syndrome) 15 (Marfan syndrome) 19 (Donohue syndrome) Multiple Fryns syndrome

Craniofacial abnormality

Contents

List of conditions

References

External links