Craniofacial abnormality

Craniofacial abnormality

Human skull
Classification and external resources
Specialty	medical genetics
ICD-10	Q75
ICD-9-CM	756.0
MeSH	D019465

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

They are associated with the development of the pharyngeal arches.^[2] Approximately, 5% of the UK or USA population present with dentofacial deformities requiring Orthognathic surgery, jaw surgery, and Orthodontics, brace therapy, as a part of their definitive treatment.^[3]^[4]^[5]

Example

References

↑ "WHO – Craniofacial abnormalities".
↑ "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. ISBN 978-145572698-1. doi:10.1016/B978-1-4557-2698-1.00003-4.
↑ 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. PMID 25957779. doi:10.1016/j.ijporl.2015.04.027.
↑ 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. PMID 27068664. doi:10.1016/j.bjps.2016.03.008.

External links

http://www.hopkinsmedicine.org/craniofacial/LynmProject/BSC/BSC3.HTM

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)

Appendicular
limb / dysmelia

Arms

clavicle / shoulder:	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome
hand deformity:	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

Leg

hip:	Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa vara
knee:	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation
foot deformity:	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Clubbed thumb
reduction deficits / limb:	Acheiropodia ectromelia Phocomelia Amelia Hemimelia
multiple joints:	Arthrogryposis Larsen syndrome Rapadilino syndrome

Axial

Skull and face

Craniosynostosis:	Scaphocephaly Oxycephaly Trigonocephaly
Craniofacial dysostosis:	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome
other:	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

Vertebral column

Thoracic skeleton

ribs:	Cervical Bifid
sternum:	Pectus excavatum Pectus carinatum

Congenital abnormality syndromes (Q87, 759.7)

Craniofacial

Acrocephalosyndactylia Apert syndrome Carpenter syndrome Pfeiffer syndrome Saethre–Chotzen syndrome Sakati–Nyhan–Tisdale syndrome
other:	Baller–Gerold syndrome Cyclopia Goldenhar syndrome Möbius syndrome

Short stature

Limbs

Adducted thumb syndrome Holt–Oram syndrome Klippel–Trénaunay–Weber syndrome Nail–patella syndrome Rubinstein–Taybi syndrome
Gastrulation/mesoderm:	Caudal regression syndrome Ectromelia Sirenomelia VACTERL association

Overgrowth

Laurence–Moon–Bardet–Biedl

Combined/other,
known locus

2 (Feingold syndrome)
3 (Zimmermann–Laband syndrome)
4/13 (Fraser syndrome)
8 (Branchio-oto-renal syndrome, CHARGE syndrome)
12 (Keutel syndrome, Timothy syndrome)
15 (Marfan syndrome)
19 (Donohue syndrome)
Multiple
- Fryns syndrome

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