Atelosteogenesis type 2
آخر تحديث 18 Aug 2020
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Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterised by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).
الوصف
Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterised by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).
The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
AO2
Atelosteogenesis de la Chapelle type
Atelosteogenesis, type 2
De la Chapelle dysplasia
McAlister dysplasia
Neonatal osseous dysplasia 1
Related patient information and medicines
Patient information leaflet
داء السكري من النوع 1
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التهاب اللفافة الناخر
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الأنسولين
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السكري
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Patient information leaflet
مرض باجيت العظمي
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السكري والمرض
It is very important to know how to cope with illness if you have diabetes or know or care for somebody with diabetes. If in doubt, always seek advice from your doctor or nurse straightaway. Further information on managing diabetes during a period of illness هو متاح on the السكري UK website (see Further Reading below for the link). There is.
قراءة إضافية ومراجع
- Atelosteogenesis type 2; MedlinePlus, National Library of Medicine.
- Hastbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet. 1996 Feb;58(2):255-62.
- Newbury-Ecob R. Atelosteogenesis type 2. J Med Genet. 1998 Jan;35(1):49-53. doi: 10.1136/jmg.35.1.49.
- Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001 Mar;17(3):159-71. doi: 10.1002/humu.1.
- Superti-Furga A, Unger S. SLC26A2-Related Atelosteogenesis. 2002 Aug 30 [updated 2026 Sep 3]. 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/NBK1317/
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
18 Aug 2020 | أحدث إصدار
1 May 2020 | نُشر في الأصل
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