Details of Disease

General Information of Disease (ID: DISZ5155)

• Disease Name: Otospondylomegaepiphyseal dysplasia, autosomal dominant
• Synonyms: Stickler syndrome, Nonocular type; Stickler syndrome nonocular type; Weissenbacher-Zweymller syndrome; Weissenbacher- Zweymuller syndrome; Stickler syndrome, type 3; Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type; STICKLER syndrome, type III; otospondylomegaepiphyseal dysplasia, autosomal dominant; Weissenbacher-Zweymuller syndrome; Pierre Robin sequence-fetal chondrodysplasia syndrome; heterozygous OSMED; Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type; OSMED, Heterozygous; Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly; OSMED, heterozygous; Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly; Pierre Robin syndrome-fetal chondrodysplasia syndrome; WZS; Piere-Robin syndrome; heterozygous otospondylomegaepiphyseal dysplasia; STL3; Pierre Robin syndrome with fetal chondrodysplasia; COL11A2 Stickler syndrome; Pierre Robin syndrome with foetal chondrodysplasia; OSMEDA; Pierre Robin malformation; Stickler syndrome, type III, formerly; Stickler syndrome, non-ocular type; Stickler syndrome caused by mutation in COL11A2
• Definition: A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
• Disease Hierarchy:
  DISFFHOF: Otospondylomegaepiphyseal dysplasia
  DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
  DISZ5155: Otospondylomegaepiphyseal dysplasia, autosomal dominant
• Disease Identifiers:
  MONDO ID: MONDO_0008490
  MESH ID: C535776
  UMLS CUI: C1848488
  OMIM ID: 184840
  MedGen ID: 341234
  Orphanet ID: 166100

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL11A1	OTB0DRMS	Limited	Biomarker	[1]
COL11A2	OT3BQUBH	Definitive	Autosomal dominant	[2]

References

• [1] Ultrastructural changes of cochlea in mice with hereditary chondrodysplasia (cho/cho).Ann N Y Acad Sci. 1991;630:259-61. doi: 10.1111/j.1749-6632.1991.tb19598.x.
• [2] Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen. J Pediatr. 1998 Feb;132(2):368-71. doi: 10.1016/s0022-3476(98)70466-4.