Microcephaly-brain defect-spasticity-hypernatremia syndrome
historical
Synonyms: Franek-Bocker-Kahlen syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-brain defect-spasticity-hypernatremia syndrome | Franek-Bocker-Kahlen syndrome |
| fr | Syndrome de microcéphalie-hypoplasie cérébrale-spasticité | Syndrome de Frarek-Bocker-Kahlen |
| de | Mikrozephalie-Hirndefekt-Spastik-Hypernatriämie-Syndrom | Frarek-Bocker-Kahlen-Syndrom |
| es | Síndrome de microcefalia-hipoplasia cerebral-espasticidad-hipernatremia | Síndrome de Frarek-Bocker-Kahlen |
| it | Sindrome da microcefalia, anomalie cerebrali, spasticità ed ipernatriemia | Sindrome di Frarek-Bocker-Kahlen |
| nl | Microcefalie - hersendefect - spasticiteit - hypernatriëmie-syndroom | Syndroom van Franek-Bocker-Kahlen |
| pt | Síndrome de microcefalia-anomalia cerebral-espasticidade-hipernatremia | Síndrome Franek-Bocker-Kahlen |
| pl | Zespół małogłowie-wady mózgu-spastyczność-hipernatremia | Zespół Franeka, Bockera i Kahlena |
| cs | Syndrom zahrnující mikrocefalii, poškození mozku, spasticitu a hypernatrémii | Franekův-Bockerův-Kahlenův syndrom · Franek-Bocker-Kahlenův syndrom |
| uk | Синдром мікроцефалії-дефекту головного мозку-спастичності-гіпернатріємії | Синдром Франека-Бокера-Калена |
| zh | 小头畸形-大脑缺陷-痉挛状态-高钠血症综合征 | Franek-Bocker-Kahlen 综合征 |
| tr | Mikrosefali-beyin defekti-spastisite-hipernatremi sendromu | Franek-Bocker-Kahlen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G98 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0016758 | E | validated | |
| UMLS | C4749368 | E | validated | |
| GARD | 3607 | 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 (3):
- 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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; 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 | 3 cases | Worldwide | Case(s) | Validated | 3784440[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3784440[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 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0000252 | Microcephaly | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001360 | Holoprosencephaly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2523
- This record as JSON: /data/d/2523.json