ORPHA:2556
Microphthalmia with linear skin defects syndrome
Synonyms: MCOPS7 · MIDAS syndrome · MLS syndrome · Microphthalmia-dermal aplasia-sclerocornea syndrome · Syndromic microphthalmia type 7
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare X-linked, syndromic eye disorder characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia with linear skin defects syndrome | MCOPS7 · MIDAS syndrome · MLS syndrome · Microphthalmia-dermal aplasia-sclerocornea syndrome · Syndromic microphthalmia type 7 |
| fr | Microphtalmie avec défauts linéaires cutanés | MCOPS7 · Microphtalmie syndromique type 7 · Syndrome MIDAS · Syndrome MLS · Syndrome de microphtalmie-aplasie dermique-sclérocornée |
| de | Mikrophthalmie-lineares Hautdefekt-Syndrom | MCOPS7 · MIDAS-Syndrom · MLS-Syndrom · Mikrophthalmie - Hautaplasie - Sklerokornea · Mikrophthalmie, syndromale, Typ 7 |
| es | Síndrome de microftalmia con defectos cutáneos lineales | MCOPS7 · Microftalmia sindrómica tipo 7 · Síndrome MIDAS · Síndrome MLS · Síndrome de microftalmia-aplasia dérmica-esclerocórnea |
| it | Sindrome da microftalmia con difetti cutanei lineari | MCOPS7 · Microftalmia - aplasia dermica - sclerocornea · Microftalmia sindromica, tipo 7 · Sindrome MIDAS · Sindrome MLS |
| nl | Microftalmie met lineaire huiddefecten-syndroom | MCOPS7 · MIDAS-syndroom · MLS-syndroom · Microftalmie - dermale aplasie - sclerocornea-syndroom · Syndromale microftalmie type 7 |
| pt | Síndrome de microftalmia com defeitos cutâneos lineares | Síndrome MIDAS · Síndrome MLS |
| pl | Zespół małoocza z liniowym defektem skórnym | MCOPS7 · Mikroftalmia - aplazja skóry - sclerocornea · Syndromiczna mikroftalmia typu 7 · Zespół MIDAS · Zespół MLS |
| cs | Syndrom zahrnující mikrooftalmii s lineárními defekty kůže | MCOPS7 · MIDAS syndrom · MLS syndrom · Syndrom zahrnující mikrooftalmii, dermální aplázii a sklerokorneu · Syndromická mikrooftalmie, typ 7 |
| uk | Мікрофтальмія з синдромом лінійних дефектів шкіри | MCOPS7 · Синдром мікрофтальмії-дермальної аплазії-склерокорнеа · Синдром MIDAS · Синдром MLS · Синдромна мікрофтальмія типу 7 |
| zh | 小眼畸形伴线性皮肤缺损综合征 | 小眼畸形-皮肤发育不全-硬化性角膜综合征 |
| tr | Lineer cilt defekti sendromlu mikroftalmi | MCOPS7 · MLS sendromu · MIDAS sendromu · Sendromik mikroftalmi tip 7 · Mikroftalmi-dermal aplazi-sklerokornea sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300887 | BTNT | validated | |
| OMIM | 300952 | BTNT | validated | |
| OMIM | 309801 | E | validated | |
| ICD-10 | Q11.2 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0010672 | E | validated | |
| MeSH | C537466 | E | validated | |
| UMLS | C0796070 | E | validated | |
| GARD | 3659 | 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 (8):
- ORPHA:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NDUFB11 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:20372 | ENSG00000147123 | 300403 | Xp11.3 | NADH:ubiquinone oxidoreductase subunit B11 | 25772934[PMID] |
| COX7B | Disease-causing germline mutation(s) in | Assessed | HGNC:2291 | ENSG00000131174 | 300885 | Xq21.1 | cytochrome c oxidase subunit 7B | 23122588[PMID] |
| HCCS | Disease-causing germline mutation(s) in | Assessed | HGNC:4837 | ENSG00000004961 | 300056 | Xp22.2 | holocytochrome c synthase | 17033964[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 55 cases | Worldwide | Case(s) | Validated | 23122588[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
77 annotations · validated 2017-07-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000528 | Anophthalmia | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0007957 | Corneal opacity | |
| HP:0004334 | Dermal atrophy | |
| HP:0010783 | Erythema | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000568 | Microphthalmia | |
| HP:0011800 | Midface retrusion | |
| HP:0000647 | Sclerocornea | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000614 | Abnormal nasolacrimal system morphology | |
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000598 | Abnormality of the ear | |
| HP:0011675 | Arrhythmia | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0009939 | Mandibular aplasia | |
| HP:0000347 | Micrognathia | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0011531 | Vitritis | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0001597 | Abnormal nail morphology | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0004378 | Abnormality of the anus | |
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0000036 | Abnormality of the penis | |
| HP:0002034 | Abnormality of the rectum | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000646 | Amblyopia | |
| HP:0002381 | Aphasia | |
| HP:0000618 | Blindness | |
| HP:0007731 | Chorioretinal dysplasia | |
| HP:0011265 | Cleft earlobe | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0002094 | Dyspnea | |
| HP:0010529 | Echolalia | |
| HP:0000039 | Epispadias | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0004302 | Functional motor deficit | |
| HP:0000501 | Glaucoma | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000238 | Hydrocephalus | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000252 | Microcephaly | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0002300 | Mutism | |
| HP:0000627 | Posterior embryotoxon | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0007973 | Retinal dysplasia | |
| HP:0000556 | Retinal dystrophy | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| HP:0002133 | Status epilepticus | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001704 | Tricuspid valve prolapse | |
| HP:0000572 | Visual loss | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2556
- This record as JSON: /data/d/2556.json