Kniest dysplasia
Dernière mise à jour 19 déc. 2024
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Kniest dysplasia is a skeletal disorder that is characterised by short stature, joint disease, and problems with vision and hearing.
Description
Kniest dysplasia is a skeletal disorder that is characterised by short stature, joint disease, and problems with vision and hearing.
People with Kniest dysplasia are born with a short torso and short arms and legs. Adult height ranges from approximately 42 to 57 inches. Other skeletal problems may include a rounded upper back that also curves to the side (kyphoscoliosis), flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the legs, and inward- and upward-turning feet (clubfeet). A distinguishing feature of Kniest dysplasia is abnormal cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development; most cartilage is later converted to bone. People with Kniest dysplasia have tiny holes in their cartilage, which makes the cartilage look like Swiss cheese when seen with medical imaging.
Individuals with Kniest dysplasia often have distinctive facial features, which include a round, flat face with prominent and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth (cleft palate). Infants with Kniest dysplasia may also have breathing problems due to a windpipe that is too flexible. Enlarged joints that cause pain and restrict movement are another sign of Kniest dysplasia. These joint problems typically lead to early-onset arthritis. Many people with Kniest dysplasia also have hearing loss and problems with vision, such as severe nearsightedness (myopia) and tearing of the light-sensitive tissue at the back of the eye (retinal detachment).
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+New variant; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Kniest chondrodystrophy
Kniest dysplasia, COL2A1-related
Kniest syndrome
Related patient information and medicines
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Lectures complémentaires et références
- Kniest dysplasia; MedlinePlus, National Library of Medicine.
- Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK540447/
- Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP. Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (Lond). 2015 Apr;29(4):475-82. doi: 10.1038/eye.2014.334. Epub 2015 Jan 16.
- Spranger J, Winterpacht A, Zabel B. Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect. Am J Med Genet. 1997 Mar 3;69(1):79-84. doi: 10.1002/(sici)1096-8628(19970303)69:13.0.co;2-l.
- Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. Indian Pediatr. 2007 Dec;44(12):931-3.
- Weis MA, Wilkin DJ, Kim HJ, Wilcox WR, Lachman RS, Rimoin DL, Cohn DH, Eyre DR. Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. J Biol Chem. 1998 Feb 20;273(8):4761-8. doi: 10.1074/jbc.273.8.4761.
- Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet. 1999 Jul 16;85(2):105-12.
- Yokoyama T, Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003 Dec;136(6):1186-8. doi: 10.1016/s0002-9394(03)00713-x.
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