Craniofacial abnormality

Craniofacial abnormality
Classification and external resources
Human skull
ICD-10	Q 75
ICD-9	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]

An example is platybasia.

References

clavicle / shoulder:	Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome

hand deformity:	Madelung's deformity · Clinodactyly · Oligodactyly · Polydactyly

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

dactyly / digit:	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

Craniofacial

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

ribs:	Cervical · Bifid

sternum:	Pectus excavatum · Pectus carinatum

anat(h/c, u, t, l)/phys

noco(arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug(M01C, M4)

Congenital abnormality · multiple abnormalities (Q87, 759.7)

Craniofacial	Acrocephalosyndactylia (Apert syndrome/Pfeiffer syndrome, Saethre-Chotzen syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) other: Möbius syndrome · Goldenhar syndrome · Cyclopia

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-Turner syndrome

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	Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome · Perlman syndrome

Laurence-Moon-Bardet-Biedl	Bardet–Biedl syndrome · Laurence-Moon syndrome

Combined/other, known locus	3 (Zimmerman-Laband syndrome) · 4/13 (Fraser syndrome) · 8 (Branchio-oto-renal syndrome) · 12 (Keutel syndrome, Timothy syndrome) · 15 (Marfan syndrome) · 19 (Donohue syndrome)