Kniest dysplasia
עודכן לאחרונה 19 דצמבר 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.
תיאור
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
Patient information leaflet
בעיות בירך
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of ירך problems in children Developmental dysplasia of ה hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Patient information leaflet
דיספלזיה התפתחותית של הירך
דיספלזיה התפתחותית של הירך is a problem with the way that the ירך joint develops. It is usually present from birth although may develop later. It is more common in girls. What is developmental dysplasia of the hip. דיספלזיה התפתחותית של הירך (DDH) היא חריגה במפרק הירך, בדרך כלל נוכחת מלידה. DDH was previously.
Patient information leaflet
פריקה
Dislocation of artificial hips in the period following hip replacement surgery - this is relatively common as the muscles and ligaments around the new ... Developmental dysplasia of ה hip. This is seen in babies when the hip joint doesn't develop normally. For more information see the separate leaflet called Developmental Dysplasia of the Hip..
Patient information leaflet
ושט בארט
Barrett's oesophagus is a condition which affects the lower gullet (oesophagus). It is named after the doctor who first described it. In Barrett's oesophagus, the cells lining the affected area of oesophagus become changed. However, these cells have an increased risk, compared with normal gullet (oesophageal) cells, of turning cancerous in time..
Patient information leaflet
צמיחה מוגבלת
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). Diastrophic dysplasia (DTD). It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalitie....
Patient information leaflet
כאב מפרקים
ה cause of joint pain may be obvious, such as following a sports injury. At other times it may need investigations and a referral for y... Conditions specifically affecting the hip joint in children may be harmless, such as irritable hip (transient synovitis) which usually resolves within a few weeks but may recur. See the separate leaflets.
קריאה נוספת והפניות
- 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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