Acromicric dysplasia

A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).


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PMID (PMCID)
29191498
 MIXED_SAMPLE Child
A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Cheng SW, Luk HM, Chu YWY, Tung YL, Kwan EY, Lo IF, Chung BH.
Eur J Med Genet. 2018;61(4):219-224.
Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal abnormalities.
27935852
 MIXED_SAMPLE Child
Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.
Hasegawa K, Numakura C, Tanaka H, Furujo M, Kubo T, Higuchi Y, Yamashita M, Tsukahara H.
J Pediatr Endocrinol Metab. 2017;30(1):117-121.
Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress.
24339047
 MIXED_SAMPLE Child
Orthopedics management of acromicric dysplasia: follow up of nine patients.
Klein C, Le Goff C, Topouchian V, Odent S, Violas P, Glorion C, Cormier-Daire V.
Am J Med Genet A. 2014;164A(2):331-7.
Acromicric dysplasia (AD) is an autosomal dominant disorder characterized by short stature, short extremities, stiff joint and skeleton features including brachymetacarpia, cone-shaped epiphyses, internal notch of the femoral head, and delayed bone age.
25142510
 MIXED_SAMPLE Infant, Newborn
Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.
Wang Y, Zhang H, Ye J, Han L, Gu X.
J Hum Genet. 2014;59(10):563-7.
Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by progressive cardiac valvular thickening and WMS distinct by microspherophakia and ectopia lentis.