Terminology Service for NFDI4Health

spastic paraplegia-facial-cutaneous lesions syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0017275


Spastic paraplegia-facial-cutaneous lesions syndrome is 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. [ ]

Term info

Label

spastic paraplegia-facial-cutaneous lesions syndrome

Synonyms
  • Bahemuka-Brown syndrome
database cross reference
Subsets

ordo_malformation_syndrome

exactMatch

http://identifiers.org/snomedct/763403007, http://linkedlifedata.com/resource/umls/id/C2931617, http://identifiers.org/mesh/C537797, http://purl.obolibrary.org/obo/Orphanet_2819

has related synonym

spastic paraplegia facial cutaneous lesions, Bahemuka Brown syndrome

id

MONDO:0017275

Term relations