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Marshall-Smith syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.
Uniprot Description A distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. Additional skeletal findings include long and thin tubular bones, broad middle phalanges with relatively narrow distal phalanges, and scoliosis.
Disease Ontology Description A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.
Mondo Term and Equivalent IDs
MONDO:0011244:  Marshall-Smith syndrome
GARD:0006985: 
MESH:C536026: 
Orphanet:561: 
SCTID:73284007: 
UMLS:C0265211: