ORPHA:126

Blepharophimosis-ptosis-epicanthus inversus syndrome

Synonyms: BPES

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal dominant, Not applicable
Age of onset: Antenatal
Status: active

A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Blepharophimosis-ptosis-epicanthus inversus syndrome	BPES
fr	Syndrome de blépharophimosis-ptosis-épicanthus inversus	= en
de	Blepharophimose-Ptosis-Epicanthus inversus-Syndrom	= en
es	Síndrome de blefarofimosis-ptosis-epicanto inverso
it	Sindrome blefarofimosi-ptosi-epicanto inverso	Blefarofimosi, tipi 1 e 2
nl	Blefarofimose - ptose - epicanthus inversus-syndroom	= en
pt	Síndrome de blefarofimose-ptose-epicanto inverso	Blefarofimose tipos 1 e 2
pl	Zwężenie szpar powiekowych-zmarszczka nakątna - opadanie powiek	Zwężenie szpar powiekowych typu 1 i 2
cs	Syndrom zahrnující blefarofimózu, inverzní epikant a ptózu	Blefarofimóza, typy 1 a 2
uk	Синдром блефарофімозу-птозу-зворотного епікантусу	= en
zh	睑裂狭小-上睑下垂-倒转型内眦赘皮综合征	= en
tr	Blefarofimoz-pitoz-epikantus inversus sendromu	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	110100	E		validated
ICD-10	Q10.3	NTBT	attributed	validated
ICD-11	LD21.Y	NTBT	index	validated
MONDO	0007201	E		validated
MeSH	C562419	E		validated
UMLS	C0220663	E		validated
MedDRA	10081258	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (2):

ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
ORPHA:98575Syndromic telecanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders

Children (2):

Codes that Orphanet moved or referred to this one:

ORPHA:261559OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome referred to · inactive
ORPHA:261572OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome referred to · inactive
ORPHA:261579OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations referred to · inactive

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FOXL2	ORPHA:572354Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:1092	ENSG00000183770	605597	3q22.3	forkhead box L2	30029625[PMID]_31823134[PMID]
FOXL2	ORPHA:572361Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:1092	ENSG00000183770	605597	3q22.3	forkhead box L2	30029625[PMID]_31823134[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	[EXPERT]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

9 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000581	Blepharophimosis
HP:0005280	Depressed nasal bridge
HP:0000286	Epicanthus
HP:0000508	Ptosis
Frequent (79-30%)
HP:0011481	Abnormal lacrimal duct morphology
HP:0000545	Myopia
Occasional (29-5%)
HP:0000639	Nystagmus
HP:0000486	Strabismus
HP:0000664	Synophrys

Run the differential on the 4 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/126
This record as JSON: /data/d/126.json