ORPHA:572333
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
Synonyms: 3q23 microdeletion syndrome · BPES plus
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- active
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene <i>FOXL2</i>, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | 3q23 microdeletion syndrome · BPES plus |
| fr | Syndrome de blépharophimosis-ptosis-épicanthus inversus plus | BPES plus · Syndrome de microdélétion 3q23 |
| de | Blepharophimose-Epicanthus inversus-Ptosis-Syndrom plus | BPES plus · Mikrodeletionssyndrom 3q23 |
| es | Síndrome de blefarofimosis-ptosis-epicanto inverso plus | BPES plus · Síndrome de microdeleción 3q23 |
| it | Sindrome blefarofimosi, ptosi, epicanto inverso plus | BPES plus · Sindrome da microdelezione 3q23 |
| nl | Blefarofimose - ptosis - epicanthus inversus-syndroom plus | 3q23-microdeletiesyndroom · BPES plus |
| pt | Síndrome plus de blefarofimose-ptose-epicanto inverso | |
| pl | Zespół zwężenia szpar powiekowych, opadania powiek i odwróconych fałdów nakątnych plus | = en |
| cs | Syndrom zahrnující blefarofimózu, ptózu a epicanthus inversus, plus | = en |
| uk | Синдром блефарофімозу-птозу-зворотнього епікантусу плюс | Синдром мікроделеції 3q23 · BPES plus |
| zh | 睑裂狭小-上睑下垂-倒转型内眦赘皮综合征 | 染色体3q23微缺失综合征 |
| tr | Blefarofimoz-pitoz-epikantus inversus sendromu plus | BPES artı · 3q23 mikrodelesyon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q10.3 | NTBT | attributed | validated |
| ICD-11 | LD44.30 | NTBT | index | validated |
| MONDO | 0035521 | E | validated | |
| UMLS | C5437588 | 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 (6):
- 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:262019Partial deletion of the long arm of chromosome 3 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98575Syndromic telecanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXL2 | Role in the phenotype of | Assessed | HGNC:1092 | ENSG00000183770 | 605597 | 3q22.3 | forkhead box L2 | 21934608[PMID]_25032695[PMID]_24725350[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
35 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000537 | Epicanthus inversus | |
| HP:0000508 | Ptosis | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0011481 | Abnormal lacrimal duct morphology | |
| HP:0000539 | Abnormality of refraction | |
| HP:0000646 | Amblyopia | |
| HP:0000633 | Decreased lacrimation | |
| HP:0007656 | Lacrimal gland aplasia | |
| HP:0000369 | Low-set ears | |
| HP:0000322 | Short philtrum | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0008233 | Decreased circulating progesterone | |
| HP:0000144 | Decreased fertility | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0032514 | Duplicated lacrimal punctum | |
| HP:0010748 | Ectopic lacrimal punctum | |
| HP:0000656 | Ectropion | |
| HP:0008232 | Elevated circulating follicle stimulating hormone level | |
| HP:0011969 | Elevated circulating luteinizing hormone level | |
| HP:0008222 | Female infertility | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0007732 | Lacrimal gland hypoplasia | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000147 | Polycystic ovaries | |
| HP:0008209 | Premature ovarian insufficiency | |
| HP:0025572 | Punctal stenosis | |
| HP:0007835 | S-shaped palpebral fissures | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0000486 | Strabismus | |
| HP:0010464 | Streak ovary | |
| HP:0000574 | Thick eyebrow | |
| Very rare (<4-1%) | ||
| HP:0000639 | Nystagmus | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 20301614[PMID]_31077882[PMID]_31048069[PMID]_33806295[PMID]_27914838[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/572333
- This record as JSON: /data/d/572333.json