ORPHA:2052
Fraser syndrome
Synonyms: Cryptophthalmos-syndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fraser syndrome | Cryptophthalmos-syndactyly syndrome |
| fr | Syndrome de Fraser | Syndrome cryptophtalmie-syndactylie · Syndrome de cryptophtalmie-syndactylie |
| de | Fraser-Syndrom | Kryptophthalmie-Syndaktylie-Syndrom |
| es | Síndrome de Fraser | Síndrome criptoftalmia-sindactilia |
| it | Sindrome di Fraser | Sindrome criptoftalmia-sindattilia |
| nl | Syndroom van Fraser | Cryptoftalmie - syndactylie-syndroom |
| pt | Síndrome Fraser | Síndrome de criptoftalmia-sindactilia |
| pl | Zespół Frasera | Zespół skrytoocze-syndaktylia |
| cs | Fraserův syndrom | Syndrom kryptoftalmu se syndaktylií |
| uk | Синдром Фрейзера | Синдром криптофтальмо-синдактилії |
| zh | Fraser综合征 | 隐眼并指综合征 |
| tr | Fraser sendromu | Kriptoftalmos-sindaktili sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219000 | BTNT | validated | |
| OMIM | 617666 | BTNT | validated | |
| OMIM | 617667 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2H.0 | E | specific | validated |
| MONDO | 0009046 | E | validated | |
| MeSH | D058497 | E | validated | |
| UMLS | C0265233 | E | validated | |
| GARD | 6465 | E | validated | |
| MedDRA | 10080219 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:98562Cryptophthalmia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2051Fraser-like syndrome moved to · inactive
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FRAS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19185 | ENSG00000138759 | 607830 | 4q21.21 | Fraser extracellular matrix complex subunit 1 | 23473829[PMID] |
| FREM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:25396 | ENSG00000150893 | 608945 | 13q13.3 | FRAS1 related extracellular matrix 2 | 18671281[PMID] |
| GRIP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18708 | ENSG00000155974 | 604597 | 12q14.3 | glutamate receptor interacting protein 1 | 22510445[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Europe | Value and class | Validated | 23532946[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 / 100 000 | Spain | Value and class | Validated | 9662850[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.
6
HPO phenotypes
66 annotations · validated 2023-11-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000079 | Abnormality of the urinary system | |
| HP:0000618 | Blindness | |
| HP:0001126 | Cryptophthalmos | Diagnostic criterion |
| HP:0012725 | Cutaneous syndactyly | Diagnostic criterion |
| HP:0006101 | Finger syndactyly | Diagnostic criterion |
| HP:0007925 | Lacrimal duct aplasia | |
| HP:0007993 | Malformed lacrimal ducts | |
| HP:0008678 | Renal hypoplasia/aplasia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0005105 | Abnormal nasal morphology | Diagnostic criterion |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000370 | Abnormality of the middle ear | |
| HP:0000356 | Abnormality of the outer ear | Diagnostic criterion |
| HP:0000142 | Abnormality of the vagina | |
| HP:0000062 | Ambiguous genitalia | Diagnostic criterion |
| HP:0002023 | Anal atresia | |
| HP:0002025 | Anal stenosis | Diagnostic criterion |
| HP:0000528 | Anophthalmia | |
| HP:0012732 | Anorectal anomaly | Diagnostic criterion |
| HP:0010297 | Bifid tongue | |
| HP:0000678 | Dental crowding | |
| HP:0000689 | Dental malocclusion | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010458 | Female pseudohermaphroditism | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0008749 | Laryngeal hypoplasia | Diagnostic criterion |
| HP:0001602 | Laryngeal stenosis | |
| HP:0000568 | Microphthalmia | |
| HP:0000358 | Posteriorly rotated ears | Diagnostic criterion |
| HP:0000046 | Small scrotum | |
| HP:0001770 | Toe syndactyly | Diagnostic criterion |
| HP:0000148 | Vaginal atresia | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010720 | Abnormal hair pattern | |
| HP:0002101 | Abnormal lung lobation | Diagnostic criterion |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000813 | Bicornuate uterus | |
| HP:0003191 | Cleft ala nasi | |
| HP:0000204 | Cleft upper lip | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0001522 | Death in infancy | |
| HP:0004397 | Ectopic anus | |
| HP:0002084 | Encephalocele | |
| HP:0000218 | High palate | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | Diagnostic criterion |
| HP:0004112 | Midline nasal groove | |
| HP:0002475 | Myelomeningocele | |
| HP:0001539 | Omphalocele | |
| HP:0000202 | Orofacial cleft | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001362 | Skull defect | |
| HP:0001607 | Subglottic stenosis | |
| HP:0002777 | Tracheal stenosis | Diagnostic criterion |
| HP:0001537 | Umbilical hernia | Diagnostic criterion |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0000068 | Urethral atresia | |
| HP:0003422 | Vertebral segmentation defect | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | Diagnostic criterion |
| Very rare (<4-1%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0009826 | Limb undergrowth | |
| HP:0003183 | Wide pubic symphysis | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 18000968[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2052
- This record as JSON: /data/d/2052.json