Cranioectodermal dysplasia
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Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Descrição
Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others.
Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns.
Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin.
Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
CED
Sensenbrenner syndrome
Related patient information and medicines
Patient information leaflet
Crescimento restrito
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). It can be due to literally hundreds of different causes, so the term actually includes many different medical conditions. The cause and type of.
Patient information leaflet
Exames físicos para recém-nascidos
Checking your baby's skin for birthmarks and rashes, as well as colour and texture. Examination of your baby's hips. This is a test to exclude displasia do desenvolvimento do quadril , which is problem with the way that the hip joint develops. Examination of your baby's scrotum (in boys). All boys have their scrotum examined to determine if the.
Patient information leaflet
Bebês prematuros
Broadly speaking, the less your baby weighs and the less time they have been in the womb, the lower the chance of survival and the higher the risk of complications. Your baby is considered to have: A baixo peso ao nascer if they weigh less than 2500 g (5 lb) A very low birth weight if they weigh less than 1500 g (3 lb) An extremely low birth weight if.
Patient information leaflet
Dor nas articulações
There are links to many of the specific conditions which cause joint pain. O que é joint pain (arthralgia). Joint pain is discomfort that arises from any joint. The medical word for joint pain is arthralgia. This is different to the word arthritis , which means inflammation of the joint, which causes pain and sometimes warmth, redness and/or.
Patient information leaflet
Problemas no quadril
For example, a back problem can cause pain in the hip area and hip problems can be felt as pain in the knee on the same side of the body. Causes of hip problems in children Developmental dysplasia do hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely.
Patient information leaflet
teste de triagem neonatal
The tests are trying to identify ... You can read more about these conditions in the sections linked to the various tests as above. For example, if your baby is found to have a condition where their hip joint is not stable ( developmental dysplasia of the hip ), the dor nas articulações can be stabilised by putting them in a harness or a plaster cast for a.
Leitura adicional e referências
- Cranioectodermal dysplasia; MedlinePlus, National Library of Medicine.
- Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 2013 Nov;161A(11):2762-76. doi: 10.1002/ajmg.a.36265. Epub 2013 Oct 3.
- Rosenbaum JL, Witman GB. Intraflagellar transport. Nat Rev Mol Cell Biol. 2002 Nov;3(11):813-25. doi: 10.1038/nrm952.
- Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. 2013 Sep 12 [updated 2022 Dec 15]. 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/NBK154653/
- Taschner M, Bhogaraju S, Lorentzen E. Architecture and function of IFT complex proteins in ciliogenesis. Differentiation. 2012 Feb;83(2):S12-22. doi: 10.1016/j.diff.2011.11.001. Epub 2011 Nov 25.
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