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]

References

↑ FRANCESCHETTI A, KLEIN D (1949). "The mandibulofacial dysostosis; a new hereditary syndrome". Acta Ophthalmol (Copenh) 27 (2): 143–224. PMID 18142195.
↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
↑ 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.

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

Appendicular
limb / dysmelia

Upper

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

hand deformity:	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

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

Index of joint

Description	Anatomy head and neck cranial arms torso and pelvis legs bursae and sheathes Physiology

Disease	Arthritis acquired back childhood soft tissue Congenital Injury Symptoms and signs eponymous orthopaedic Examination

Treatment	Procedures Drugs rheumatoid arthritis gout topical analgesics

Nucleus diseases

Telomere

Revesz syndrome

Nucleolus

Centromere

CENPJ
- Seckel syndrome 4

Other

AAAS
- [Triple-A syndrome]]
Laminopathy
SMC1A/SMC3
- Cornelia de Lange Syndrome
SETBP1
- Schinzel–Giedion syndrome

see also nucleus

Index of cells

Description	Structure nucleus chromosome genetics Organelles peroxisome cytoskeleton centrosome epithelia cilia mitochondria Membranes proteins cell adhesions Membrane transport ion channels vesicular transport solute carrier ABC transporters ATPase oxidoreduction-driven

Disease	Structural peroxisome cytoskeleton cilia mitochondria nucleus scleroprotein Membrane channelopathy solute carrier ATPase ABC transporters other extracellular ligands cell surface receptors intracellular signalling Vesicular transport Pore-forming toxins

Franceschetti–Klein syndrome

See also

References