Stickler syndrome type 2
- Synonyms
- COL11A1-Related Stickler Syndrome; STICKLER SYNDROME, TYPE II; STL 2; Stickler syndrome, beaded vitreous type; Stickler syndrome, vitreous type 2
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Geert Mortier
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (96 available)
Clinical features
Help- Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Bifid uvula
Bifid uvula
- MedGen UID: 1646931
- Concept ID: C4551488
- Finding: Congenital Abnormality
Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- High, narrow palate
High, narrow palate
- MedGen UID: 324787
- Concept ID: C1837404
- Finding: Finding
Abnormality of head or neck
- Isolated Pierre-Robin syndrome
Isolated Pierre-Robin syndrome
- MedGen UID: 19310
- Concept ID: C0031900
- Finding: Congenital Abnormality
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Anteverted nares
- Abnormality of limbs
- Arachnodactyly
Arachnodactyly
- MedGen UID: 2047
- Concept ID: C0003706
- Finding: Congenital Abnormality
Abnormality of limbs
- Long fingers
Long fingers
- MedGen UID: 346836
- Concept ID: C1858091
- Finding: Finding
Abnormality of limbs
- Arachnodactyly
- Abnormality of the eye
- Abnormal vitreous humor morphology
Abnormal vitreous humor morphology
- MedGen UID: 870895
- Concept ID: C4025356
- Finding: Anatomical Abnormality
Abnormality of the eye
- Cataract
Cataract
- MedGen UID: 39462
- Concept ID: C0086543
- Finding: Disease or Syndrome
Abnormality of the eye
- Glaucoma
Glaucoma
- MedGen UID: 42224
- Concept ID: C0017601
- Finding: Disease or Syndrome
Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Abnormality of the eye
- Myopia
Myopia
- MedGen UID: 44558
- Concept ID: C0027092
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal detachment
Retinal detachment
- MedGen UID: 19759
- Concept ID: C0035305
- Finding: Disease or Syndrome
Abnormality of the eye
- Abnormal vitreous humor morphology
- Abnormality of the musculoskeletal system
- Arthropathy
Arthropathy
- MedGen UID: 7190
- Concept ID: C0022408
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia
- MedGen UID: 20916
- Concept ID: C0038015
- Finding: Finding
Abnormality of the musculoskeletal system
- Arthropathy
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Tympanic membrane hypermobility
Tympanic membrane hypermobility
- MedGen UID: 1054151
- Concept ID: CN376530
- Finding: Finding
Ear malformation
- Sensorineural hearing loss disorder
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