Lowe-Kohn-Cohen syndrome

Orpha code: 2408OMIM code:

Definicja

Lowe-Kohn-Cohen syndrome is an extremely rare anorectal malformation syndrome characterized by imperforate anus, closed ano-perineal fistula, preauricular skin tag and absent renal abnormalities and pre-axial limb deformities. There have been no further descriptions in the literature since 1983.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Deafness-nephritis-ano-rectal malformation syndrome
Głuchota - zapalenie nerek - malformacja odbytu i odbytnicy
Hearing loss-nephritis-ano-rectal malformation syndrome
Kod ORPHA
2408
Kod OMIM
-
Kod ICD10
Q87.8
Kod ICD11
LD2H.Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl