Microlissencephaly-micromelia syndrome
Synonyms: Basel-Vanagaite-Sirota syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microlissencephaly-micromelia syndrome | Basel-Vanagaite-Sirota syndrome |
| fr | Syndrome de microlissencéphalie-micromélie | Syndrome de Basel-Vanagaite-Sirota |
| de | Mikrolissenzephalie-Mikromelie-Syndrom | Basel-Vanagaite-Sirota-Syndrom |
| es | Síndrome de microlisencefalia-micromelia | Síndrome de Basel-Vanagaite-Marcus-Klinger |
| it | Microlissencefalia - micromelia | Sindrome di Basel-Vanagaite-Sirota |
| nl | Microlissencefalie - micromelie-syndroom | Syndroom van Basel-Vanagaite-Sirota |
| pt | Síndrome de microlisencefalia-micromelia | Síndrome Basel-Vanagaite-Sirota |
| pl | Mikrolizencefalia - mikromelia | Zespół Basela, Vanagaite i Sirota |
| cs | Syndrom zahrnující mikrolissencefalii a mikromelii | Basel-Vanagaiteové-Sirotové syndrom · Basel-Vanagaite-Sirotové syndrom |
| uk | Синдром мікролісенцефалії-мікромелії | Синдром Базеля-Ванагайта-Сіроти |
| zh | 小脑无脑回畸形伴短肢畸形综合征 | Basel-Vanagaite-Sirota综合征 |
| tr | Mikrolizensefali-mikromeli sendromu | Basel-Vanagaite-Sirota sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| MONDO | 0018860 | E | validated | |
| UMLS | C4509878 | 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:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - 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 | 2 cases | Worldwide | Case(s) | Validated | 12749064[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12749064[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000878 | 11 pairs of ribs | |
| HP:0001181 | Adducted thumb | |
| HP:0001284 | Areflexia | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000280 | Coarse facial features | |
| HP:0002353 | EEG abnormality | |
| HP:0001508 | Failure to thrive | |
| HP:0010945 | Fetal pyelectasis | |
| HP:0004554 | Generalized hypertrichosis | |
| HP:0001263 | Global developmental delay | |
| HP:0001339 | Lissencephaly | |
| HP:0000343 | Long philtrum | |
| HP:0002983 | Micromelia | |
| HP:0100540 | Palpebral edema | |
| HP:0001561 | Polyhydramnios | |
| HP:0002098 | Respiratory distress | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0100530 | Abnormality of calcium-phosphate metabolism | |
| HP:0001276 | Hypertonia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0001252 | Hypotonia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12923870[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50810
- This record as JSON: /data/d/50810.json