Geleophysic dysplasia

A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').

Small hand

Disproportionately small hand.


Total: 2

                       


(per page)
PMID (PMCID)
24214363
 FEMALE Adult
Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A, Kirmani S, Cetta F, Younge B, Hyland JC, Michels V.
Am J Med Genet A. 2013;161A(12):3130-2.
We studied a 35-year-old woman with geleophysic dysplasia, with short stature, small hands and feet, limitation of joint mobility, mild skin thickening, cardiac valvular disease, restrictive pulmonary disease, and microspherophakia.
9295082
 MALE Child
Patients with geleophysic dysplasia are not always geleophysic.
Santolaya JM, Groninga LC, Delgado A, Monasterio JL, Camarero C, Bilbao FJ.
Am J Med Genet. 1997;72(1):85-90.
We report on two boys with facial anomalies, small hands and feet, joint contractures, thick skin, unusual tiptoe gait and lysosome-like inclusions in the hepatocytes, compatible with a diagnosis of geleophysic dysplasia (GD).