Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Orpha code: 2928OMIM code:

Definition

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.

Disease data
Classification

Malformation syndrome

Synonyms
Lundberg syndrome
Zespół Lundberga
ORPHA code
2928
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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