ORPHA:2526
Microcephaly-chorioretinopathy-lymphedema syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-chorioretinopathy-lymphedema syndrome | |
| fr | Syndrome de microcéphalie-choriorétinopathie-lymphoedème | |
| de | Mikrozephalie-Chorioretinopathie-Lymphödem-Syndrom | MCLMR-Syndrom |
| es | Síndrome de microcefalia-coriorretinopatía-linfedema | |
| it | Sindrome microcefalia-corioretinopatia-linfedema | |
| nl | Microcefalie - chorioretinopathie - lymfoedeem-syndroom | MLCRD |
| pt | Síndrome de microcefalia-linfedema-coriorretinopatia | MLCRD |
| pl | Zespół małogłowia, obrzęku limfatycznego i chorioretinopatii | MLCRD |
| cs | Syndrom zahrnující mikrocefalii, lymfedém a chorioretinopatii | MLCRD |
| uk | Синдром мікроцефалії-лімфедеми-хоріоретинопатії | MLCRD |
| zh | 小头畸形-淋巴水肿-脉络膜视网膜病变综合征 | MLCRD |
| tr | Mikrosefali-lenfödem-korioretinopati sendromu | MLCRD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 152950 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | BD93.0 | NTBT | index | validated |
| MONDO | 0007918 | E | validated | |
| MeSH | C537711 | E | validated | |
| UMLS | C1835265 | E | validated | |
| GARD | 3622 | 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:2416Congenital primary lymphedema without systemic or visceral involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1432Autosomal dominant chorioretinopathy-microcephaly syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KIF11 | Disease-causing germline mutation(s) in | Assessed | HGNC:6388 | ENSG00000138160 | 148760 | 10q23.33 | kinesin family member 11 | 22284827[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 families | Worldwide | Family(ies) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19076985[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
67 annotations · validated 2017-07-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0001004 | Lymphedema | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0008388 | Abnormal toenail morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001595 | Abnormality of the hair | |
| HP:0000969 | Edema | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001820 | Leukonychia | |
| HP:0100644 | Melanonychia | |
| HP:0000545 | Myopia | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0000646 | Amblyopia | |
| HP:0000528 | Anophthalmia | |
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
| HP:0100658 | Cellulitis | |
| HP:0007731 | Chorioretinal dysplasia | |
| HP:0010310 | Chylothorax | |
| HP:0000958 | Dry skin | |
| HP:0000286 | Epicanthus | |
| HP:0001055 | Erysipelas | |
| HP:0000293 | Full cheeks | |
| HP:0100758 | Gangrene | |
| HP:0000501 | Glaucoma | |
| HP:0001276 | Hypertonia | |
| HP:0001909 | Leukemia | |
| HP:0000343 | Long philtrum | |
| HP:0002665 | Lymphoma | |
| HP:0000568 | Microphthalmia | |
| HP:0003552 | Muscle stiffness | |
| HP:0000648 | Optic atrophy | |
| HP:0012490 | Panniculitis | |
| HP:0002202 | Pleural effusion | |
| HP:0000307 | Pointed chin | |
| HP:0000411 | Protruding ear | |
| HP:0000508 | Ptosis | |
| HP:0000541 | Retinal detachment | |
| HP:0007973 | Retinal dysplasia | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000488 | Retinopathy | |
| HP:0002063 | Rigidity | |
| HP:0040189 | Scaling skin | |
| HP:0001250 | Seizure | |
| HP:0003510 | Severe short stature | |
| HP:0200042 | Skin ulcer | |
| HP:0000340 | Sloping forehead | |
| HP:0001257 | Spasticity | |
| HP:0002133 | Status epilepticus | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0012471 | Thick vermilion border | |
| HP:0001072 | Thickened skin | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0004936 | Venous thrombosis | |
| HP:0000572 | Visual loss | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
Run the differential on the 4 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2526
- This record as JSON: /data/d/2526.json