Paraplegia-intellectual disability-hyperkeratosis syndrome
Synonyms: Fitzsimmons-McLachlan-Gilbert syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Paraplegia-intellectual disability-hyperkeratosis syndrome | Fitzsimmons-McLachlan-Gilbert syndrome |
| fr | Syndrome de paraplégie-déficience intellectuelle-hyperkératose | Syndrome de Fitzsimmons-McLachlan-Gilbert |
| de | Paraplegie-Intelligenzminderung-Hyperkeratose-Syndrom | Fitzsimmons-McLachlan-Gilbert-Syndrom |
| es | Síndrome de paraplejía-discapacidad intelectual-hiperqueratosis | Síndrome de Fitzsimmons-McLachlan-Gilbert |
| it | Sindrome paraplegia-disabilità intellettiva-ipercheratosi | Sindrome di Fitzsimmons-McLachlan-Gilbert |
| nl | Paraplegie - intellectuele achterstand - hyperkeratose-syndroom | Syndroom van Fitzsimmons-McLachlan-Gilbert |
| pt | Síndrome de paraplegia-perturbação do desenvolvimento intelectual-hiperqueratose | Síndrome Fitzsimmons-McLachlan-Gilbert |
| pl | Paraplegia - niepełnosprawność intelektualna - hiperkeratoza | Zespół Fitzsimmonsa, McLachlan i Gilberta |
| cs | Syndrom zahrnující paraplegii, mentální retardaci a hyperkeratózu | Fitzsimmonsův-McLachlanův-Gilbertův syndrom · Fitzsimmons-McLachlan-Gilbertův syndrom |
| uk | Синдром параплегії-інтелектуальної недостатності-гіперкератозу | Синдром Фіцсіммонса-МакЛахлана-Гілберта |
| zh | 截瘫-智力障碍-角化过度综合征 | Fitzsimmons-McLachlan-Gilbert 综合征 |
| tr | Parapleji-zihinsel yetersizlik-hiperkeratoz sendromu | Fitzsimmons-McLachlan-Gilbert sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309560 | E | validated | |
| ICD-10 | G82.1 | NTBT | attributed | validated |
| MONDO | 0010662 | E | validated | |
| MeSH | C537058 | E | validated | |
| UMLS | C2745996 | E | validated | |
| GARD | 2344 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; 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 | 6 cases | Worldwide | Case(s) | Validated | 23613454[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0001249 | Intellectual disability | |
| HP:0003189 | Long nose | |
| HP:0002061 | Lower limb spasticity | |
| HP:0010620 | Malar prominence | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001258 | Spastic paraplegia | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0001156 | Brachydactyly | |
| HP:0001348 | Brisk reflexes | |
| HP:0000348 | High forehead | |
| HP:0001347 | Hyperreflexia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000347 | Micrognathia | |
| HP:0000340 | Sloping forehead | |
| HP:0002209 | Sparse scalp hair | |
| Occasional (29-5%) | ||
| HP:0000483 | Astigmatism | |
| HP:0000639 | Nystagmus | |
| HP:0000508 | Ptosis | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2824
- This record as JSON: /data/d/2824.json