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PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Phenotype C0410528|skeletal dysplasia
Sentences 11
PubMedID- 23087851 short stature may result from skeletal dysplasias, endocrine disorders, may be familial, or may be the result of malnutrition and chronic illnesses.
PubMedID- 21262861 Shox haploinsufficiency has been demonstrated in leri-weill dyschondrosteosis (lwd), a skeletal dysplasia associated with disproportionate short stature, as well as in a variable proportion of cases with idiopathic short stature (iss).
PubMedID- 26147980 Although some of the clinical symptoms are characteristic for mps iva (such as short stature together with progressive skeletal dysplasia), it is nearly impossible to distinguish the two forms of mps iv based on clinical data alone.
PubMedID- 24536087 Objective: to assess the prevalence of skeletal dysplasias (sds) in patients with idiopathic short stature (iss) or small for gestational age (sga) status.
PubMedID- 24312420 Pseudoachondroplasia (psach) and multiple epiphyseal dysplasia (med) are skeletal dysplasias associated with short-limbed dwarfism and early onset osteoarthritis (oa).
PubMedID- 25196103 Biallelic loss-of-function mutations in npr-b gene (npr2) cause acromesomelic dysplasia type maroteux, a skeletal dysplasia with extremely short stature.
PubMedID- 20412871 Leri-weill dyschondrosteosis (lwd, mim 127300), is a dominantly inherited skeletal dysplasia with disproportionate short stature, mesomelic limb shortening, and the characteristic madelung deformity.
PubMedID- 24324705 Achondroplasia (ach) is one of the most common skeletal dysplasias with short stature caused by gain-of-function mutations in fgfr3 encoding the fibroblast growth factor receptor 3.
PubMedID- 21684269 This accumulation causes a severe skeletal dysplasia with short stature, and affects the eye, heart and other organs, with many signs and symptoms.
PubMedID- 21057181 skeletal dysplasias generally present with disproportionate short stature, that may be caused primarily by a short trunk or short limbs.
PubMedID- 23330244 The gene encoding fibroblast growth factor receptor 3 is responsible for achondroplasia, representative skeletal dysplasia with short stature.

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