Intellectual disability-balding-patella luxation-acromicria syndrome

Orpha code: 3041OMIM code: 300977

Definition

Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.

Disease data
Classification

Malformation syndrome

Synonyms
Scholte-Begeer-van Essen syndrome
Zespół Scholte, Begeera i van Essena
ORPHA code
3041
OMIM code
300977
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