Gamuts

Lesch-Nyhan syndrome

Lesch–Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT1 gene located on the X chromosome. [Source: Wikipedia ]

Synonyms
Congenital hyperuricosuria
OrphaNet reference
Lesch-Nyhan syndrome 
May Cause
Acquired absence of phalanx, digit, hand, or foot
Acro-osteolysis
Brachydactyly
Delayed bone age
Dense epiphyses of hands and feet
Gout
Hyperechoic renal medulla
Limb reduction
Microcephaly
Nephropathy
Retarded skeletal maturation
Self-mutilation
Tongue abnormality
Tongue ulcer
Urinary tract calculus
Synonyms
Congenital hyperuricosuria
OrphaNet reference
Lesch-Nyhan syndrome 
May Cause
Acquired absence of phalanx, digit, hand, or foot
Acro-osteolysis
Brachydactyly
Delayed bone age
Dense epiphyses of hands and feet
Gout
Hyperechoic renal medulla
Limb reduction
Microcephaly
Nephropathy
Retarded skeletal maturation
Self-mutilation
Tongue abnormality
Tongue ulcer
Urinary tract calculus


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