Acromicric dysplasia

An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped EPIPHYSES, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Mutations in the FBN1 gene have been identified. OMIM: 102370

Also Known As:

Networked: 20 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Acromicric dysplasia
2.	Obesity
3.	Dwarfism
4.	Weill-Marchesani Syndrome
5.	Laron Syndrome (Syndrome, Laron)

Experts

1.	Cormier-Daire, Valérie: 5 articles (11/2022 - 09/2008)
2.	Le Goff, Carine: 4 articles (11/2022 - 09/2008)
3.	Apte, Suneel S: 4 articles (01/2019 - 09/2008)
4.	Hubmacher, Dirk: 3 articles (01/2019 - 05/2015)
5.	Delhon, Laure: 2 articles (11/2022 - 01/2019)
6.	Goudin, Nicolas: 2 articles (11/2022 - 01/2019)
7.	Le Goff, Wilfried: 2 articles (11/2022 - 01/2019)
8.	Wang, Lauren W: 2 articles (05/2015 - 09/2008)
9.	Laron, Z: 2 articles (03/2009 - 01/2001)
10.	Bibimbou, Angélique: 1 article (11/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Acromicric dysplasia:

1.	Fibrillin-1IBA 03/26/2023 - "Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report." 11/25/2022 - "Here we report a novel mutation in the fibrillin 1 gene (FBN1) in six family members causing a mild phenotype of acromicric dysplasia. " 11/25/2022 - "Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family." 05/01/2014 - "Geleophysic dysplasia type 2 (MIM 614185) is autosomal dominant and is caused by heterozygous mutation in the fibrillin 1 (FBN1) gene. " 11/10/2022 - "Mutations in the fibrillin-1 (FBN1) gene are responsible for the autosomal dominant form of geleophysic dysplasia (GD), which is characterized by short stature and extremities, thick skin and cardiovascular disease. "
2.	Growth Hormone (Somatotropin)IBA 12/01/2017 - "In conclusion, we have identified a novel splicing mutation of ADAMTSL2 carried by a Chinese boy with geleophysic dysplasia type 1. The patient was treated effectively with growth hormone supplementation." 01/01/2017 - "Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment." 06/01/2009 - "Untreated patients with congenital growth hormone deficiency (GHD) and IGF-I deficiency are characterized not only by dwarfism but also by acromicria and organomicria, such as the heart. " 01/01/2001 - "We found that early and continuous IGF-I deficiency (the anabolic effector of growth hormone) causes dwarfism, acromicria, organomicria, marked obesity, insulin resistance, retardation of skeletal maturation and osteoporosis, as well as muscular and central nervous tissue underdevelopment, and a series of biochemical changes including hypercholesterolemia. "
3.	Insulin-Like Growth Factor I (IGF-1)IBA 01/01/2018 - "The first case showed frontal bossing, doll face, acromicria, and truncal obesity, with a GH peak <0.05 ng/ml after stimuli and undetectable serum IGF-I levels. " 03/01/2009 - "Congenital IGF-I deficiency, as in Laron syndrome, profoundly affects the size and growth of the hand as part of its growth retardation characteristics, resulting in acromicria." 06/01/2009 - "Untreated patients with congenital growth hormone deficiency (GHD) and IGF-I deficiency are characterized not only by dwarfism but also by acromicria and organomicria, such as the heart. " 01/01/2001 - "We found that early and continuous IGF-I deficiency (the anabolic effector of growth hormone) causes dwarfism, acromicria, organomicria, marked obesity, insulin resistance, retardation of skeletal maturation and osteoporosis, as well as muscular and central nervous tissue underdevelopment, and a series of biochemical changes including hypercholesterolemia. "
4.	Metalloproteases (Metalloproteinases)IBA 05/01/2014 - "Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. " 01/01/2019 - "Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 ( ADAMTSL2) gene are responsible for the autosomal recessive form of geleophysic dysplasia, which is characterized by short stature, short extremities, and skeletal abnormalities. " 09/01/2008 - "Studying six geleophysic dysplasia families, we first mapped the underlying gene to chromosome 9q34.2 and identified five distinct nonsense and missense mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2), which encodes a secreted glycoprotein of unknown function. "
5.	DisintegrinsIBA 05/01/2014 - "Geleophysic dysplasia type 1 (MIM 231050) is autosomal recessive and is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 (a disintegrin and metalloproteinase with thrombosponding repeats-like 2) gene. " 01/01/2019 - "Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 ( ADAMTSL2) gene are responsible for the autosomal recessive form of geleophysic dysplasia, which is characterized by short stature, short extremities, and skeletal abnormalities. " 09/01/2008 - "Studying six geleophysic dysplasia families, we first mapped the underlying gene to chromosome 9q34.2 and identified five distinct nonsense and missense mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2), which encodes a secreted glycoprotein of unknown function. "
6.	Glycoproteins (Glycoprotein)IBA 05/01/2015 - "Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin-Lueke syndrome (MLS) in dogs. " 01/01/1987 - ""Geleophysic" dysplasia is a rare autosomal recessive disorder, probably of glycoprotein metabolism, which shares some clinical and roentgenological manifestations with acromicric dysplasia. " 01/01/1987 - "Geleophysic dysplasia--acromicric dysplasia with evidence of glycoprotein storage." 09/01/2008 - "Studying six geleophysic dysplasia families, we first mapped the underlying gene to chromosome 9q34.2 and identified five distinct nonsense and missense mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2), which encodes a secreted glycoprotein of unknown function. "
7.	ThrombospondinsIBA 01/01/2019 - "Mutations in the a disintegrin and metalloproteinase with thrombospondin motif-like 2 ( ADAMTSL2) gene are responsible for the autosomal recessive form of geleophysic dysplasia, which is characterized by short stature, short extremities, and skeletal abnormalities. " 09/01/2008 - "Studying six geleophysic dysplasia families, we first mapped the underlying gene to chromosome 9q34.2 and identified five distinct nonsense and missense mutations in ADAMTSL2 (a disintegrin and metalloproteinase with thrombospondin repeats-like 2), which encodes a secreted glycoprotein of unknown function. "
8.	FibrillinsIBA 05/01/2015 - "Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia." 01/01/2019 - "Geleophysic dysplasia results from dominant fibrillin-1 (FBN1) or recessive ADAMTSL2 mutations, suggesting a functional link between ADAMTSL2 and fibrillin microfibrils. "
9.	ADAMTS ProteinsIBA 09/01/2015 - "In addition to broadly similar dysmorphology, individuals affected by Weill-Marchesani syndrome 1, Weill-Marchesani-like syndrome or geleophysic dysplasia each show characteristic anomalies suggesting molecule-, tissue-, or context-specific functions for the respective ADAMTS proteins. " 09/01/2008 - "ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation."
10.	Latent TGF-beta Binding Proteins (Latent TGF beta Binding Protein)IBA 09/01/2008 - "A yeast two-hybrid screen showed that ADAMTSL2 interacts with latent TGF-beta-binding protein 1. In addition, we observed a significant increase in total and active TGF-beta in the culture medium as well as nuclear localization of phosphorylated SMAD2 in fibroblasts from individuals with geleophysic dysplasia. "