Congenital ichthyosis-microcephalus-tetraplegia syndrome
historical
Synonyms: Congenital ichthyosis-microcephalus-quadriplegia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital ichthyosis-microcephalus-tetraplegia syndrome | Congenital ichthyosis-microcephalus-quadriplegia syndrome |
| fr | Syndrome d'ichtyose congénitale-microcéphalie-tétraplégie | Syndrome d'ichtyose congénitale-microcéphalie-quadriplégie |
| de | Kongenitale Ichthyose-Mikrozephalie-Tetraplegie-Syndrom | |
| es | Síndrome de ictiosis congénita-microcefalia-tetraplejía | Ictiosis congénita-microcefalia-cuadriplejía |
| it | Sindrome ittiosi congenita-microcefalia-tetraplegia | Ittiosi congenita - microcefalo - quadriplegia |
| nl | Congenitale ichthyosis - microcefalus - tetraplegie-syndroom | Congenitale ichthyosis - microcefalus - quadriplegie-syndroom |
| pt | Síndrome de ictiose congénita-microcefalia-tetraplegia | |
| pl | Rybia łuska wrodzona - małogłowie - tetraplegia | Rybia łuska wrodzona - małogłowie - kwadriplegia |
| cs | Syndrom zahrnující vrozenou ichtyózu, mikrocefalii a tetraplegii | Syndrom zahrnující vrozenou ichtyózu, mikrocefalii a kvadruplegii |
| uk | Синдром вродженого іхтіозу-мікроцефалії-тетраплегії | Синдром вродженого іхтіозу-мікроцефалії-квадриплегії |
| zh | 先天性鱼鳞病-小头畸形-四肢麻痹综合征 | 先天性鱼鳞病-小头畸形-四肢麻痹综合征 |
| tr | Doğumsal iktiyoz-mikrosefali-tetrapleji sendromu | Doğumsal iktiyoz-mikrosefali-kuadripleji sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0016417 | E | validated | |
| UMLS | C5679626 | 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:281238Autosomal ichthyosis syndrome with prominent neurologic signs
rare genetic diseases; rare skin 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7619196[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7619196[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
8 annotations · validated 2017-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0003011 | Abnormality of the musculature | |
| HP:0000958 | Dry skin | |
| HP:0001347 | Hyperreflexia | |
| HP:0008064 | Ichthyosis | |
| HP:0000252 | Microcephaly | |
| HP:0007021 | Pain insensitivity | |
| HP:0002445 | Tetraplegia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2271
- This record as JSON: /data/d/2271.json