Intellectual disability-spasticity-ectrodactyly syndrome

Orpha code: 1891OMIM code: 246555

Definition

Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet).

Disease data
Classification

Malformation syndrome

Synonyms
Jancar syndrome
Zespół Jancar
ORPHA code
1891
OMIM code
246555
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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