Acromicric dysplasia
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Acromicric dysplasia is a condition characterised by severely short stature, short limbs, stiff joints, and distinctive facial features.
Descrizione
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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
ACMICD
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Dislocazione
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Esami fisici per neonati
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 evolutiva dell'anca , 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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Bambini prematuri
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Dolore articolare
The different causi result in differing symptoms, trattamenti and outcomes. This leaflet summarises the most common causes of joint pain, and discusses when you should seek help if you have dolore alle articolazioni pain. Conditions specifically affecting the hip joint in children may be harmless, such as irritable hip (transient syn... See the separate leaflets.
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Problemi all'anca
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Ulteriori letture e riferimenti
- 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.
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