ORPHA:1106
Microphthalmia with limb anomalies
Synonyms: Anophthalmia-syndactyly syndrome · OAS · Ophthalmoacromelic syndrome · Waardenburg anophthalmia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia with limb anomalies | Anophthalmia-syndactyly syndrome · OAS · Ophthalmoacromelic syndrome · Waardenburg anophthalmia syndrome |
| fr | Microphtalmie avec anomalie des membres | OAS · Syndrome d'anophtalmie de Waardenburg · Syndrome d'anophtalmie-syndactylie · Syndrome ophtalmo-acromélique |
| de | Mikrophthalmie mit Gliedmaßenanomalien | Anophthalmie mit Anomalien der Gliedmaßen · Anophthalmie-Syndaktylie-Syndrom · OAS · Opthalmo-akromeles Syndrom · Waardenburg-Anophthalmie-Syndrom |
| es | Microftalmia con anomalías de las extremidades | OAS · Síndrome anoftalmia-sindactilia · Síndrome de anoftalmia de Waardenburg · Síndrome oftalmo-acromélico |
| it | Microftalmia con anomalie degli arti | OAS · Sindrome anoftalmia-sindattilia · Sindrome da anoftalmia di Waardenburg · Sindrome oftalmo-acromelica |
| nl | Microftalmie met ledemaatanomalieën | Anoftalmie - syndactylie-syndroom · OAS · Oftalmoacromelisch syndroom · Waardenburg anoftalmiesyndroom |
| pt | Microftalmia com anomalias dos membros | Síndrome oftalmo-acromélico |
| pl | Małoocze i wady kończyn | Anoftalmia - syndaktylia · OAS · Zespół anoftalmii Waardenburga · Zespół oczno-kończynowy |
| cs | Mikroftalmie s anomáliemi končetin | Syndrom zahrnující anoftalmii a syndaktylii · OAS · Oftalmoakromelický syndrom · Syndrom Waardenburgovy anoftalmie |
| uk | Мікрофтальмія з аномаліями кінцівок | Синдром анофтальмії-синдактилії · OAS · Офтальмоакромелічний синдром · Синдром анофтальмії Ваарденбурга |
| zh | 小眼畸形伴肢体异常 | Waardenburg无眼综合征 |
| tr | Ekstremite anomalileri ile seyreden mikroftalmi | OAS · Oftalmokromelik sendrom · Anoftalmi-sindaktili sendromu · Waardenburg anoftalmi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206920 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD21.0 | NTBT | index | validated |
| MONDO | 0008800 | E | validated | |
| MeSH | C537769 | E | validated | |
| UMLS | C0599973 | E | validated | |
| GARD | 722 | 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 (3):
- 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:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMOC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:20318 | ENSG00000198732 | 608488 | 14q24.1 | SPARC related modular calcium binding 1 |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 35 families | Worldwide | Family(ies) | Validated | 21750680[PMID]_21194680[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | 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.
6
HPO phenotypes
57 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0000581 | Blepharophimosis | |
| HP:0006101 | Finger syndactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000568 | Microphthalmia | |
| HP:0011220 | Prominent forehead | |
| HP:0001852 | Sandal gap | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0100240 | Synostosis of joints | |
| HP:0001770 | Toe syndactyly | |
| HP:0011478 | True anophthalmia | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001215 | Camptodactyly of 2nd-5th fingers | |
| HP:0000204 | Cleft upper lip | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001508 | Failure to thrive | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0009380 | Finger aplasia | |
| HP:0001849 | Foot oligodactyly | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0009748 | Large earlobe | |
| HP:0000648 | Optic atrophy | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0003026 | Short long bone | |
| HP:0004322 | Short stature | |
| HP:0005736 | Short tibia | |
| HP:0008368 | Tarsal synostosis | |
| HP:0002982 | Tibial bowing | |
| Occasional (29-5%) | ||
| HP:0002139 | Arrhinencephaly | |
| HP:0006487 | Bowing of the long bones | |
| HP:0011304 | Broad thumb | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0001522 | Death in infancy | |
| HP:0003042 | Elbow dislocation | |
| HP:0000218 | High palate | |
| HP:0002827 | Hip dislocation | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000238 | Hydrocephalus | |
| HP:0010650 | Hypoplasia of the premaxilla | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0001572 | Macrodontia | |
| HP:0000347 | Micrognathia | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000233 | Thin vermilion border | |
| HP:0005293 | Venous insufficiency | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1106
- This record as JSON: /data/d/1106.json