Spastic paraplegia-facial-cutaneous lesions syndrome
historical
Synonyms: Bahemuka-Brown syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy
- Status
- historical
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-facial-cutaneous lesions syndrome | Bahemuka-Brown syndrome |
| fr | Syndrome de paraplégie spastique-lésions cutanées faciales | Syndrome de Bahemuka-Brown |
| de | Spastische Paraplegie-kutane Gesichtsläsionen-Syndrom | Bahemuka-Brown-Syndrom |
| es | Síndrome de paraplejía espástica-lesiones cutáneas faciales | Síndrome de Bahemuka-Brown |
| it | Paraplegia spastica - lesioni cutanee facciali | Sindrome di Bahemuka-Brown |
| nl | Spastische paraplegie - faciale-cutane laesies-syndroom | Syndroom van Bahemuka-Brown |
| pt | Síndrome de paraplegia espástica-lesões cutâneas da face | Síndrome Bahemuka-Brown |
| pl | Paraplegia spastyczna - zmiany skórne na twarzy | Zespół Bahemuka i Browna |
| cs | Syndrom zahrnující spastickou paraplegii a faciální a kožní léze | Bahemukaův-Brownův syndrom · Bahemuka-Brownův syndrom |
| uk | Синдром спастичної параплегії з лицьово-шкірними ураженнями | Синдром Баємуки-Брауна |
| zh | 痉挛性截瘫-面部-皮肤损伤综合征 | Bahemuka-Brown综合征 |
| tr | Spastik parapleji-yüz-deri lezyonları sendromu | Bahemuka-Brown sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0017275 | E | validated | |
| MeSH | C537797 | E | validated | |
| UMLS | C2931617 | E | validated | |
| GARD | 806 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 7117711[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7117711[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2017-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002353 | EEG abnormality | |
| HP:0001288 | Gait disturbance | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001347 | Hyperreflexia | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0010550 | Paraplegia | |
| HP:0001257 | Spasticity | |
| HP:0001025 | Urticaria | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2819
- This record as JSON: /data/d/2819.json