Lowe-Kohn-Cohen syndrome

Orpha code: 2408OMIM code:

Definition

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
Classification

Malformation syndrome

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

No additional description.

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