Isolated congenital nail clubbing; Isolated congenital digital clubbing
Description
Isolated congenital nail clubbing (ICNC) is a rare autosomal recessive disorder characterised by enlargement of the terminal segments of fingers and toes with thickened nails due to proliferation of the connective tissues and abnormal function of the nail matrix. It has been reported that mutation in the HPGD gene underlies ICNC.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the skeleton
Congenital deformities of fingers or toes
LB80 Congenital deformities of fingers
H01246 Isolated congenital nail clubbing