Keratosis follicularis-dwarfism-cerebral atrophy syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keratosis follicularis-dwarfism-cerebral atrophy syndrome | |
| fr | Syndrome de kératose folliculaire-nanisme-atrophie cérébrale | |
| de | Keratosis follicularis-Kleinwuchs-Hirnatrophie-Syndrom | |
| es | Síndrome de queratosis folicular-talla baja significativa-atrofia cerebral | Síndrome de queratosis folicular-enanismo-atrofia cerebral |
| it | Sindrome da cheratosi follicolare-nanismo-atrofia cerebrale | |
| nl | Keratosis follicularis - dwerggroei - cerebrale atrofie-syndroom | |
| pt | Síndrome de queratose folicular-nanismo-atrofia cerebral | |
| pl | Rogowacenie mieszkowe - karłowatość - atrofia mózgu | |
| cs | Syndrom zahrnující folikulární keratózu, trpaslictví a cerebrální atrofii | |
| uk | Синдром фолікулярного кератозу-карликовості-церебральної атрофії | |
| zh | 毛囊角化病-侏儒症-脑萎缩综合征 | |
| tr | Keratoz folikularis-cücelik-serebral atrofi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308830 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0010638 | E | validated | |
| MeSH | C536158 | E | validated | |
| UMLS | C4510086 | E | validated | |
| GARD | 3099 | 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 (4):
- 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 - ORPHA:79359Other epidermal disorder
rare skin diseases - ORPHA:79360Other genetic epidermal disease
rare genetic 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_4834251[PMID] |
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 4834251[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
6 annotations · validated 2019-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0002059 | Cerebral atrophy | |
| HP:0007439 | Generalized keratosis follicularis | |
| HP:0000252 | Microcephaly | |
| HP:0003510 | Severe short stature | |
Annotation source: 4834251[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2339
- This record as JSON: /data/d/2339.json