ORPHA:89844
Lissencephaly syndrome, Norman-Roberts type
Synonyms: Microlissencephaly type A
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lissencephaly syndrome, Norman-Roberts type | Microlissencephaly type A |
| fr | Lissencéphalie type Norman-Roberts | Microlissencéphalie type A |
| de | Lissenzephalie-Syndrom Typ Norman-Roberts | |
| es | Síndrome de lisencefalia tipo Norman-Roberts | |
| it | Sindrome lissencefalica, tipo Norman-Roberts | Microlissencefalia, tipo A |
| nl | Lissencefaliesyndroom, Norman-Roberts-type | Microlissencefalie type A |
| pt | Síndrome de lisencefalia tipo Norman-Roberts | |
| pl | Zespół lizencefalii typu Normana-Robertsa | Mikrolizencefalia typu A |
| cs | Lissencefalický syndrom, Normanové-Robertsové typ | Mikrolissencefalie, typ A · Lissencefalický syndrom, Norman-Robertsové typ |
| uk | Синдром лісенцефалії, тип Нормана-Робертса | Мікроліцефалія типу А |
| zh | 无脑回畸形综合征，Norman-Roberts型 | 小头畸形A型 |
| tr | Lizensefali sendromu, Norman-Roberts tipi | Mikrolizensefali tip A |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 257320 | E | validated | |
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LD20.1 | NTBT | index | validated |
| MONDO | 0009760 | E | validated | |
| MeSH | C537848 | E | validated | |
| UMLS | C0796089 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1083Microlissencephaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KATNB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6217 | ENSG00000140854 | 602703 | 16q21 | katanin regulatory subunit B1 | 25521378[PMID]_25521379[PMID] |
| NDE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17619 | ENSG00000072864 | 609449 | 16p13.11 | nudE neurodevelopment protein 1 | 21529751[PMID]_21529752[PMID] |
| RELN | Disease-causing germline mutation(s) in | Assessed | HGNC:9957 | ENSG00000189056 | 600514 | 7q22.1 | reelin | 10973257[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
35 annotations · validated 2020-10-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006818 | 4-layered lissencephaly | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0045028 | Microlissencephaly | |
| HP:0011451 | Primary microcephaly | |
| Frequent (79-30%) | ||
| HP:0003808 | Abnormal muscle tone | |
| HP:0002683 | Abnormality of the calvaria | |
| HP:0011968 | Feeding difficulties | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000308 | Microretrognathia | |
| HP:0000341 | Narrow forehead | |
| HP:0012736 | Profound global developmental delay | |
| HP:0000269 | Prominent occiput | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000340 | Sloping forehead | |
| HP:0000350 | Small forehead | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0000479 | Abnormal retinal morphology | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0001181 | Adducted thumb | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001631 | Atrial septal defect | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002514 | Cerebral calcification | |
| HP:0000268 | Dolichocephaly | |
| HP:0002015 | Dysphagia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0006270 | Hypoplastic spleen | |
| HP:0001655 | Patent foramen ovale | |
| HP:0002098 | Respiratory distress | |
| HP:0001838 | Rocker bottom foot | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25927602[PMID]_17367103[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/89844
- This record as JSON: /data/d/89844.json