Acromicric dysplasia
Zuletzt aktualisiert 18. Aug 2020
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Acromicric dysplasia is a condition characterised by severely short stature, short limbs, stiff joints, and distinctive facial features.
Beschreibung
Acromicric dysplasia is a condition characterised by severely short stature, short limbs, stiff joints, and distinctive facial features.
Newborns with acromicric dysplasia are of normal size, but slow growth over time results in short stature. The average height of adults with this disorder is about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of the arms and legs, and the bones in the hands and feet, are shorter than would be expected for the individual's height. Other skeletal features that occur in this disorder include slowed mineralization of bone (delayed bone age), abnormally shaped bones of the spine (vertebrae), and constrained movement of joints. Affected individuals often develop carpal tunnel syndrome, which is characterised by numbness, tingling, and weakness in the hands and fingers. A misalignment of the hip joints (hip dysplasia) can also occur in this disorder. These skeletal and joint problems may require treatment, but most affected individuals have few limitations in their activities.
Children with acromicric dysplasia may have a round face, sharply defined eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space between the nose and upper lip (long philtrum), and a small mouth with thick lips. These facial differences become less apparent in adulthood. Intelligence is unaffected in this disorder, and life expectancy is generally normal.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
ACMICD
Related patient information and medicines
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Luxation
A dislocation ist an injury in which the bones in ein joint are forced apart and out of their usual positions. To dislocate the bones of a large joint usually needs considerable force (although t... There are three main causes of hip dislocations: A major injury such as a road accident. Developmental dysplasia of the hip. For more information see the.
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Neugeborenen-Untersuchungen
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 Entwicklungsdysplasie der Hüfte , 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.
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Frühgeborene
Premature babies are born too early, before they have fully developed in the womb. They often need extra or intensive medical care and support while their organs continue to develop to a point where they can survive without specialist help. Most premature babies go on to have normal healthy lives, but they are at increased risk of medical and.
Patient information leaflet
Gelenkschmerzen
The different verursacht result in differing symptoms, Behandlungen and outcomes. This leaflet summarises the most common causes of joint pain, and discusses when you should seek help if you have joint pain. Conditions specifically affecting the hip joint in children may be harmless, such as irritable hip (transient syn... See the separate leaflets.
Patient information leaflet
Hüftprobleme
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of Hüfte problems in children Developmental dysplasia of Arztpraxis 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.
Weiterführende Lektüre und Referenzen
- Acromicric dysplasia; MedlinePlus, National Library of Medicine.
- Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745.
- Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V. Orthopedics management of acromicric dysplasia: follow up of nine patients. Am J Med Genet A. 2014 Feb;164A(2):331-7. doi: 10.1002/ajmg.a.36139. Epub 2013 Dec 11.
- Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.
Artikelverlauf
Artikel auch verfügbar in Englisch, Deutsch, Spanisch, Französisch, Italienisch, Portugiesisch, Hindi, Hebräisch, Arabisch, und Schwedisch.
18. Aug 2020 | Neueste Version
1 Dec 2014 | Ursprünglich veröffentlicht
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