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Ontology Browser

Term:
Geleophysic Dysplasia 1 (DOID:9004585)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Geleophysic Dysplasia 1  
Geleophysic dysplasia-1 is an autosomal recessive 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 characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD1 is caused by homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34. (OMIM)
Geleophysic Dysplasia 2  
Geleophysic Dysplasia 3  

Synonyms
Exact Synonyms: GPHYSD1 ;   Musladin-Lueke syndrome
Primary IDs: OMIM:231050
Alternate IDs: OMIA:001509 ;   RDO:0008302

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.