Franceschetti–Klein syndrome

Medical condition

Franceschetti–Klein syndrome
Other names	Mandibulofacial dysostosis

This condition is inherited in an autosomal dominant manner.
Specialty	Medical genetics

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]^: 577It 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.

External links

Classification	D ICD-9-CM: 756.0 OMIM: 154500 DiseasesDB: 13267

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality

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	Hip dislocation / 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 Stub 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 Oto-palato-digital 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
other:	Poland syndrome

v t e Nucleus diseases
Telomere	Revesz syndrome
Nucleolus	Treacher Collins syndrome Spinocerebellar ataxia 7 Cajal body: Spinal muscular atrophy
Centromere	CENPJ Seckel syndrome 4
Other	AAAS Triple-A syndrome Laminopathy SMC1A/SMC3 Cornelia de Lange Syndrome SETBP1 Schinzel–Giedion syndrome
see also nucleus