×
About 46 results

ALLMedicine™ Acromicric Dysplasia Center

Research & Reviews  23 results

Acromicric dysplasia
https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia

Dec 2nd, 2020 - Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement an...

Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336748
Molecular Genetics & Genomic Medicine; Wang T, Yang Y et. al.

May 14th, 2020 - Acromicric dysplasia is a rare heritable short-stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time o...

A report of three families with FBN1-related acromelic dysplasias and review of literat...
https://doi.org/10.1016/j.ejmg.2017.11.018
European Journal of Medical Genetics; Cheng SW, Luk HM et. al.

Dec 1st, 2017 - Acromelic dysplasia is a heterogeneous group of rare skeletal dysplasias characterized by distal limb shortening. Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within thi...

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a compari...
https://doi.org/10.1515/jpem-2016-0258
Journal of Pediatric Endocrinology & Metabolism : JPEM; Hasegawa K, Numakura C et. al.

Dec 9th, 2016 - Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinic...

see more →

Clinicaltrials.gov  23 results

Acromicric dysplasia
https://rarediseases.info.nih.gov/diseases/7/acromicric-dysplasia

Dec 2nd, 2020 - Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement an...

Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336748
Molecular Genetics & Genomic Medicine; Wang T, Yang Y et. al.

May 14th, 2020 - Acromicric dysplasia is a rare heritable short-stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time o...

A report of three families with FBN1-related acromelic dysplasias and review of literat...
https://doi.org/10.1016/j.ejmg.2017.11.018
European Journal of Medical Genetics; Cheng SW, Luk HM et. al.

Dec 1st, 2017 - Acromelic dysplasia is a heterogeneous group of rare skeletal dysplasias characterized by distal limb shortening. Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within thi...

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a compari...
https://doi.org/10.1515/jpem-2016-0258
Journal of Pediatric Endocrinology & Metabolism : JPEM; Hasegawa K, Numakura C et. al.

Dec 9th, 2016 - Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinic...

see more →