Spastic paraplegia-facial-cutaneous lesions syndrome

Orpha code: 2819OMIM code:

Definition

A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.

Disease data
Classification

Malformation syndrome

Synonyms
Bahemuka-Brown syndrome
Zespół Bahemuka i Browna
ORPHA code
2819
OMIM code
-
ICD10 code
G11.4
ICD11 code
-

No additional description.

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