Nestor-Guillermo progeria syndrome
Synonyms: NGPS
Nestor-Guillermo progeria syndrome is a rare genetic progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible clavicles ribs distal phalanges and long bones) osteoporosis generalized lipoatrophy and absence of cardiovascular atherosclerotic and metabolic complications presenting a relatively long survival. Additional characteristics include growth retardation joint stiffness (mainly of fingers hands knees and elbows) wide cranial sutures dysmorphic facial features (prominent eyes convex nasal ridge malocclusion dental crowding thin lip vermillion microretrognathia) and persistent eyebrows eyelashes and scalp hair.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Nestor-Guillermo progeria syndrome?
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Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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