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Autosomal recessive Stickler syndrome

MedGen UID:
799110
Concept ID:
CN201875
Disease or Syndrome
Synonyms: autosomal recessive Stickler syndrome; Stickler syndrome, autosomal recessive
 
Monarch Initiative: MONDO:0016647
Orphanet: ORPHA250984

Definition

gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms [from ORDO]

Recent clinical studies

Diagnosis

Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B
Eur J Med Genet 2019 Oct;62(10):103724. Epub 2019 Jul 14 doi: 10.1016/j.ejmg.2019.103724. PMID: 31315069
Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW
Clin Genet 2019 Feb;95(2):325-328. Epub 2018 Nov 18 doi: 10.1111/cge.13465. PMID: 30362103
Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics., Hudgins L
Am J Med Genet A 2018 Dec;176(12):2887-2891. Epub 2018 Nov 18 doi: 10.1002/ajmg.a.40647. PMID: 30450842Free PMC Article
Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P
Am J Med Genet A 2014 Jan;164A(1):42-7. Epub 2013 Nov 22 doi: 10.1002/ajmg.a.36165. PMID: 24273071
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. PMID: 21421862

Prognosis

Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. PMID: 21421862

Clinical prediction guides

Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B
Eur J Med Genet 2019 Oct;62(10):103724. Epub 2019 Jul 14 doi: 10.1016/j.ejmg.2019.103724. PMID: 31315069
Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW
Clin Genet 2019 Feb;95(2):325-328. Epub 2018 Nov 18 doi: 10.1111/cge.13465. PMID: 30362103
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. PMID: 21421862

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