Keutel syndrome: Information from Answers.com

Keutel syndrome
Classification and external resources
OMIM	245150
DiseasesDB	33698
eMedicine	/

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]

References

^ ^a ^b Munroe PB, Olgunturk RO, Fryns JP, et al. (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.
^ Potparic, Olivera; John Gibson (1995). A Dictionary of Congenital Malformations and Disorders. Informa Health Care. pp. 98. ISBN 1850705771. http://books.google.co.uk/books?id=iiY1TK5gIZMC.
^ Teebi AS, Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM (1998). "Keutel syndrome: further characterization and review". Am. J. Med. Genet. 78 (2): 182–7. doi:10.1002/(SICI)1096-8628(19980630)78:2<182::AID-AJMG18>3.0.CO;2-J. PMID 9674914.
^ 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)

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

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)

Combined/other, unknown locus	Ablepharon macrostomia syndrome · Fountain syndrome · Urban-Rogers-Meyer syndrome · Yunis-Varon syndrome

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