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SCARF syndrome

Disease Summary
Associated Targets ()

Mondo Description SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
Mondo Term and Equivalent IDs
MONDO:0010728:  SCARF syndrome
GARD:0000247: 
MESH:C536625: 
Orphanet:3134: 
SCTID:734173003: 
UMLS:C1839321: