Nestor-Guillermo progeria syndrome

Orpha code: 280576OMIM code: 614008

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
NGPS
NGPS
Kod ORPHA
280576
Kod OMIM
614008
Kod ICD10
E34.8
Kod ICD11
-

No additional description.

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