Anophthalmia plus syndrome
Synonyms: Fryns microphthalmia syndrome · Microphthalmia with facial clefting
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anophthalmia plus syndrome | Fryns microphthalmia syndrome · Microphthalmia with facial clefting |
| fr | Syndrome anophtalmie plus | Syndrome microphtalmie de Fryns |
| de | Anophthalmie plus-Syndrom | Fryns-Mikrophthalmie-Syndrom · Mikrophthalmie mit Gesichtsspalte |
| es | Síndrome de anoftalmía plus | Microftalmia con hendidura facial · Síndrome de microftalmia de Fryns |
| it | Sindrome anoftalmia plus | Microftalmia con schisi facciale · Sindrome della microftalmia di Fryns |
| nl | Anoftalmie plus-syndroom | Microftalmie met aangezichtsspleten · Microftalmiesyndroom van Fryns |
| pt | Síndrome anoftalmia-plus | |
| pl | Zespół anoftalmia plus | Mikroftalmia z rozszczepem twarzy · Zespół mikroftalmii Frynsa |
| cs | Syndrom anoftalmie-plus | Syndrom Frynsovy mikroftalmie · Mikroftalmie s rozštěpem obličeje |
| uk | Синдром анофтальмії плюс | Синдром мікрофтальмії Фрінса · Мікрофтальмія з розщепленням обличчя |
| zh | 无眼畸形加综合征 | 小眼畸形伴面裂 |
| tr | Anoftalmi artı sendromu | Fryns mikroftalmi sendromu · Fasiyal yarıklı mikroftalmi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600776 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0010930 | E | validated | |
| MeSH | C537767 | E | validated | |
| UMLS | C1833339 | E | validated | |
| GARD | 719 | 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):
Parents in the classifications (2):
- 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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 24341146[PMID]_25804017[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24341146[PMID]_25804017[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.
HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000528 | Anophthalmia | |
| Frequent (79-30%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0002006 | Facial cleft | |
| HP:0000316 | Hypertelorism | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000358 | Posteriorly rotated ears | |
| Occasional (29-5%) | ||
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0000581 | Blepharophimosis | |
| HP:0004097 | Deviation of finger | |
| HP:0000625 | Eyelid coloboma | |
| HP:0000612 | Iris coloboma | |
| HP:0002414 | Spina bifida | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1104
- This record as JSON: /data/d/1104.json