Lissencephaly type 3-metacarpal bone dysplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndromic form of lissencephaly characterized by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. The syndrome may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly type 3-metacarpal bone dysplasia syndrome | |
| fr | Syndrome de lissencéphalie type 3-dysplasie métacarpienne | |
| de | Lissenzephalie Typ 3-metakarpale Knochendysplasie-Syndrom | |
| es | Síndrome de lisencefalia tipo 3-displasia ósea metacarpiana | |
| it | Lissencefalia tipo 3 - displasia delle ossa metacarpali | |
| nl | Lissencefalie type 3 - dysplasie van metacarpus-syndroom | |
| pt | Síndrome de lisencefalia tipo 3-displasia óssea dos metacarpos | |
| pl | Lizencefalia typu 3 - dysplazja kości śródręcza | |
| cs | Syndrom zahrnující lissencefalii typu 3 a dysplázii metakarpálních kostí | |
| uk | Синдром лісенцефалії 3-го типу з ураженням 3-х пʼясткових кісток | |
| zh | 无脑回畸形3型-掌骨发育不良综合征 | |
| tr | Lizensefali tip 3-metakarpal kemik displazisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601160 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0011004 | E | validated | |
| UMLS | C4305254 | 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:102011Lissencephaly type 3
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 | 2 cases | Worldwide | Case(s) | Validated | 11170088[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11170088[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
23 annotations · validated 2016-11-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001561 | Polyhydramnios | |
| Very frequent (99-80%) | ||
| HP:0002134 | Abnormal basal ganglia morphology | |
| HP:0003330 | Abnormal bone structure | |
| HP:0008178 | Abnormal cartilage matrix | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0006872 | Cerebral hypoplasia | |
| HP:0003405 | Diffuse axonal swelling | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0000282 | Facial edema | |
| HP:0002365 | Hypoplasia of the brainstem | |
| HP:0001339 | Lissencephaly | |
| HP:0000252 | Microcephaly | |
| HP:0007190 | Neuronal loss in the cerebral cortex | |
| HP:0001302 | Pachygyria | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010049 | Short metacarpal | |
| HP:0012697 | Small basal ganglia | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 11170088[PMID]_11170088[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/86822
- This record as JSON: /data/d/86822.json