Pierre Robin syndrome associated with collagen disease

MedGen UID:: 1842679
•Concept ID:: C5679599
•: Disease or Syndrome

Synonym:	Pierre Robin sequence associated with collagen disease

Orphanet:	ORPHA138041

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPierre Robin syndrome associated with collagen disease

Pierre Robin syndrome associated with collagen disease

Recent clinical studies

Etiology

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Basart H, van de Kar A, Adès L, Cho TJ, Carter E, Maas SM, Wilson LC, van der Horst CM, Wade EM, Robertson SP, Hennekam RC
Am J Med Genet A 2015 Jun;167(6):1215-22. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.37044. PMID: 25899317

Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.

Couchouron T, Masson C
Joint Bone Spine 2011 Jan;78(1):45-9. Epub 2010 May 11 doi: 10.1016/j.jbspin.2010.03.012. PMID: 20462780

Clinical and Molecular genetics of Stickler syndrome.

Snead MP, Yates JR
J Med Genet 1999 May;36(5):353-9. PMID: 10353778 Free PMC Article

See all (3)

Diagnosis

Stickler syndrome type 1 accompanied by membranous vitreous anomaly in two Japanese sisters.

Suemori S, Sawada A, Shiraki I, Mochizuki K
Semin Ophthalmol 2014 Jan;29(1):45-7. Epub 2013 Oct 28 doi: 10.3109/13506129.2013.839805. PMID: 24164106

Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.

Gerth-Kahlert C, Grisanti S, Berger E, Höhn R, Witt G, Jung U
J AAPOS 2011 Jun;15(3):311-3. doi: 10.1016/j.jaapos.2011.03.008. PMID: 21777803

See all (2)

Prognosis

Early-onset progressive osteoarthritis with hereditary progressive ophtalmopathy or Stickler syndrome.

Couchouron T, Masson C
Joint Bone Spine 2011 Jan;78(1):45-9. Epub 2010 May 11 doi: 10.1016/j.jbspin.2010.03.012. PMID: 20462780

See all (1)

Clinical prediction guides

The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

Francomano CA, Liberfarb RM, Hirose T, Maumenee IH, Streeten EA, Meyers DA, Pyeritz RE
Genomics 1987 Dec;1(4):293-6. doi: 10.1016/0888-7543(87)90027-9. PMID: 2896625

See all (1)

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Pierre Robin syndrome associated with collagen disease

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

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