Franceschetti–Klein syndrome

Franceschetti–Klein syndrome
Classification and external resources
ICD-9	756.0
OMIM	154500
DiseasesDB	13267

Franceschetti–Klein syndrome (also known as "Mandibulofacial dysostosis")^[1] is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.^[2]:577

It is sometimes equated with Treacher Collins syndrome.^[3]

See also

• Skin lesion
• Dysostosis

References

1. ^ FRANCESCHETTI A, KLEIN D (1949). "The mandibulofacial dysostosis; a new hereditary syndrome". Acta Ophthalmol (Copenh) 27 (2): 143–224. PMID 18142195. 
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
3. ^ Teber OA, Gillessen-Kaesbach G, Fischer S, et al. (November 2004). "Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation". Eur. J. Hum. Genet. 12 (11): 879–90. doi:10.1038/sj.ejhg.5201260. PMID 15340364. 

Lower

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

Axial

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
Vertebral column	spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · Sacralization
Thoracic skeleton	ribs: Cervical · Bifid sternum: Pectus excavatum · Pectus carinatum

M: JNT anat(h/c, u, t, l)/phys noco(arth/defr/back/soft)/cong, sysi/epon, injr proc, drug(M01C, M4)