Keutel syndrome

Keutel syndrome Classification and external resources
OMIM	245150
DiseasesDB	33698

Keutel syndrome is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation.^[1] ^[2] ^[3] It was first identified in 1972.^[1]

Keutel syndrome has an autosomal recessive pattern of inheritance.

It is associated with Matrix gla protein.^[4]

[edit] References

^ ^a ^b Munroe, Patricia; Rana O. Olgunturk, Jean-Pierre Fryns, Lionel Van Maldergem, France Ziereisen, Bulend Yuksel, R. Mark Gardiner & Eddie Chung (1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nature Genetics (21): 142–144. doi:10.1038/5102.
^ Potparic, Olivera; John Gibson (1995). A Dictionary of Congenital Malformations and Disorders. Informa Health Care, 98. ISBN 1850705771.
^ Teebi, A. S.; Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM. (1998-06-30). "Keutel syndrome: further characterization and review.". American Journal of Medical Genetics 78 (2): 182–7. doi:10.1002/(SICI)1096-8628(19980630)78:2<182::AID-AJMG18>3.0.CO;2-J.
^ Munroe PB, Olgunturk RO, Fryns JP, et al (January 1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nat. Genet. 21 (1): 142–4. doi:10.1038/5102. PMID 9916809.

v • d • e Congenital abnormality - multiple abnormalities (Q87, 759.7)

Facial	Acrocephalosyndactylia (Apert syndrome, Saethre-Chotzen syndrome, Pfeiffer syndrome, Carpenter syndrome, Sakati-Nyhan-Tisdale syndrome) - Mobius syndrome - Goldenhar syndrome - Cyclopia

Short stature	Aarskog-Scott syndrome - Cockayne syndrome - Cornelia de Lange Syndrome - Dubowitz syndrome - Noonan syndrome - Robinow syndrome - Silver-Russell dwarfism - Seckel syndrome - Smith-Lemli-Opitz syndrome

Limbs	Adducted thumb syndrome - Holt-Oram syndrome - Klippel-Trenaunay-Weber syndrome - Nail-patella syndrome - Rubinstein-Taybi syndrome - Sirenomelia - VACTERL association

Overgrowth	Beckwith-Wiedemann syndrome - Sotos syndrome - Weaver syndrome

Collagen	Alport syndrome

Combined/other, known locus	3 (Zimmerman-Laband syndrome) - 4/13 (Fraser syndrome) - 8 (Branchio-oto-renal syndrome) - 11/16 (Bardet-Biedl syndrome) - 12 (Keutel syndrome, Timothy syndrome) - 15 (Marfan syndrome) - 19 (Donohue syndrome)

Combined/other, unknown locus	Ablepharon macrostomia syndrome - Fountain syndrome - Urban-Rogers-Meyer syndrome - Vici syndrome - Yunis-Varon syndrome - Zori Stalker Williams syndrome

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