ORPHA:2409
Lowry-MacLean syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Lowry-MacLean syndrome is a very rare syndrome characterized by microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lowry-MacLean syndrome | |
| fr | Syndrome de Lowry-MacLean | |
| de | Lowry-Maclean-Syndrom | |
| es | Síndrome de Lowry-MacLean | |
| it | Sindrome di Lowry-Maclean | |
| nl | Syndroom van Lowry-MacLean | |
| pt | Síndrome Lowry-Maclean | |
| pl | Zespół Lowry'ego i MacLeana | |
| cs | Lowryho-MacLeanův syndrom | Lowry-MacLeanův syndrom |
| uk | Синдром Лоурі-Макліна | |
| zh | Lowry-MacLean综合征 | |
| tr | Lowry-MacLean sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600252 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010851 | E | validated | |
| MeSH | C537037 | E | validated | |
| UMLS | C0796020 | E | validated | |
| GARD | 3300 | 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 (4):
- 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:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 9415481[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9415481[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
52 annotations · validated 2019-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002012 | Abnormality of the abdominal organs | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001363 | Craniosynostosis | |
| HP:0000680 | Delayed eruption of primary teeth | |
| HP:0001087 | Developmental glaucoma | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001510 | Growth delay | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000520 | Proptosis | |
| HP:0011344 | Severe global developmental delay | |
| Occasional (29-5%) | ||
| HP:0000078 | Abnormality of the genital system | |
| HP:0100538 | Abnormality of the supraorbital ridges | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0000592 | Blue sclerae | |
| HP:0000453 | Choanal atresia | |
| HP:0001680 | Coarctation of aorta | |
| HP:0007957 | Corneal opacity | |
| HP:0004439 | Craniofacial dysostosis | |
| HP:0025247 | Dermoid cyst | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000577 | Exotropia | |
| HP:0004554 | Generalized hypertrichosis | |
| HP:0001269 | Hemiparesis | |
| HP:0000348 | High forehead | |
| HP:0002705 | High, narrow palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0000485 | Megalocornea | |
| HP:0000347 | Micrognathia | |
| HP:0005211 | Midgut malrotation | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000278 | Retrognathia | |
| HP:0003194 | Short nasal bridge | |
| HP:0003196 | Short nose | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000237 | Small anterior fontanelle | |
| HP:0011087 | Talon cusp | |
| HP:0000243 | Trigonocephaly | |
| HP:0000572 | Visual loss | |
| HP:0005442 | Widely patent coronal suture | |
| Very rare (<4-1%) | ||
| HP:0001250 | Seizure | |
Annotation source: 9415481[PMID]_281275[PMID]_7856667[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2409
- This record as JSON: /data/d/2409.json