ORPHA:2570
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Synonyms: Morse-Rawnsley-Sargent syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal
- Status
- active
A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | Morse-Rawnsley-Sargent syndrome |
| fr | Syndrome de retard de croissance intra-utérin-malformation corticale-contractures congénitales | Syndrome Morse-Rawnsley-Sargent |
| de | Letale intrauterine Wachstumsverzögerung-kortikale Fehlbildungen-kongenitale Kontrakturen-Syndrom | Morse-Rawnsley-Sargent-Syndrom |
| es | Síndrome letal de contracturas congénito con malformaciones corticales y restricción del crecimiento intrauterino | Síndrome de Morse-Rawnsley-Sargent |
| it | Sindrome letale da ritardo della crescita intrauterina - malformazioni corticali - contratture congenite | Sindrome di Morse-Rawnsley-Sargent · Sindrome oloprosencefalia-sequenza da acinesia/ipocinesia fetale |
| nl | Letaal intra-uteriene groeirestrictie - corticale malformatie - congenitale contracturen-syndroom | Syndroom van Morse-Rawnsley-Sargent |
| pt | Síndrome letal de restrição do crescimento intrauterino-malformação cortical-contraturas congénitas | Síndrome Morse-Rawnsley-Sargent |
| pl | Zespół holoprozencefalii, hipokinezji i wrodzonych przykurczy | Zespół holoprozencefalii i sekwencji akinezji lub hipokinezji płodu · Zespół Morse'a, Rawnsley'a i Sargenta |
| cs | Syndrom zahrnující holoprosencefalii, hypokinesii a vrozené kontraktury | Syndrom zahrnující holoprosencefalii a sekvenci fetální akinézie/hypokinézie · Morseův-Rawnsleyové-Sargentův syndrom · Morse-Rawnsley-Sargentův syndrom |
| uk | Летальний синдром затримки внутрішньоутробного розвитку - вади розвитку кори головного мозку - вроджені контрактури | Синдром Морзе-Ронслі-Сарджента |
| zh | 致死性宫内生长受限-皮质畸形-先天性挛缩综合征 | Morse-Rawnsley-Sargent 综合征 |
| tr | Letal intrauterin büyüme kısıtlılığı-kortikal malformasyon-Doğumsal kontraktür sendromu | Morse-Rawnsley-Sargent sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 306990 | E | validated | |
| ICD-10 | Q04.2 | NTBT | attributed | validated |
| MONDO | 0010610 | E | validated | |
| MONDO | 10610 | E | validated | |
| UMLS | C4274798 | E | validated | |
| GARD | 3788 | 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 (3):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GPKOW | Disease-causing germline mutation(s) in | Assessed | HGNC:30677 | ENSG00000068394 | 301003 | Xp11.23 | G-patch domain and KOW motifs | 28612833[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 3321025[PMID]_3211858[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3321025[PMID]_3211858[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.
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HPO phenotypes
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001558 | Decreased fetal movement | |
| HP:0001360 | Holoprosencephaly | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000252 | Microcephaly | |
| HP:0002828 | Multiple joint contractures | |
| Frequent (79-30%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0100625 | Enlarged thorax | |
| HP:0000369 | Low-set ears | |
| HP:0000470 | Short neck | |
| HP:0000340 | Sloping forehead | |
| Occasional (29-5%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0010662 | Abnormality of the diencephalon | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0001181 | Adducted thumb | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000581 | Blepharophimosis | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000490 | Deeply set eye | |
| HP:0002324 | Hydranencephaly | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2570
- This record as JSON: /data/d/2570.json