ORPHA:2057
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Synonyms: Frydman-Cohen-Karmon syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome | Frydman-Cohen-Karmon syndrome |
| fr | Syndrome de blépharophimosis-ptosis-ésotropie-syndactylie-petite taille | Syndrome de Frydman-Cohen-Karmon |
| de | Blepharophimose-Ptosis-Esotropie-Syndaktylie-Kleinwuchs-Syndrom | Frydman-Cohen-Karmon-Syndrom |
| es | Síndrome de blefarofimosis-ptosis-esotropía-sindactilia-talla baja | |
| it | Blefarofimosi - ptosi - esotropia - sindattilia - bassa statura | Sindrome di Frydman-Cohen-Karmon |
| nl | Blefarofimose - ptose - esotropie - syndactylie - kleine gestalte-syndroom | Syndroom van Frydman-Cohen-Karmon |
| pt | Síndrome de blefarofimose-ptose-esotropia-sindactilia-baixa estatura | Síndrome Frydman-Cohen-Karmon |
| pl | Zwężenie szpary powiekowej - ptoza- esotropia - syndaktylia - niski wzrost | Zespół Frydmana, Cohena i Karmona |
| cs | Syndrom zahrnující blefarofimózu, ptózu, ezotropii, syndaktylii a malý vzrůst | Frydmanův-Cohenův-Karmonův syndrom · Frydman-Cohen-Karmonův syndrom |
| uk | Синдром блефарофімозу-птозу-езотропії-синдактилії-низького зросту | Синдром Фрідмана-Коена-Кармона |
| zh | 睑裂狭小-上睑下垂-内斜视-并指(趾)-身材矮小综合征 | Frydman-Cohen-Karmon 综合征 |
| tr | Blefarofimoz-pitoz-ezotropya-sindaktili kısa boy sendromu | Frydman-Cohen-Karmon sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210745 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008875 | E | validated | |
| UMLS | C4303550 | E | validated | |
| GARD | 905 | 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 (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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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 | 6 cases | Worldwide | Case(s) | Validated | 1311991[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1311991[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | |
| HP:0000581 | Blepharophimosis | |
| HP:0000565 | Esotropia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000508 | Ptosis | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| Frequent (79-30%) | ||
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000458 | Anosmia | |
| HP:0000316 | Hypertelorism | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0000179 | Thick lower lip vermilion | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2057
- This record as JSON: /data/d/2057.json