Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
historical
Synonyms: Cassia Stocco dos Santos syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome | Cassia Stocco dos Santos syndrome |
| fr | Syndrome d'anophtalmie-mégalocornée-cardiopathie-anomalies squelettiques | Syndrome de Cassia-Stocco-Dos Santos |
| de | Anophthalmie-Megalokornea-Kardiopathie-Skelettanomalien-Syndrom | Cassia-Stocco-dos Santos-Syndrom |
| es | Síndrome de anoftalmia-megalocórnea-cardiopatía-anomalías esqueléticas | Síndrome de Cassia-Stocco-dos Santos |
| it | Anoftalmia - megalocornea - cardiopatia - anomalie scheletriche | Sindrome di Cassia-Stocco-Dos Santos |
| nl | Anoftalmie - megalocornea - cardiopathie - skeletale anomalieën-syndroom | Syndroom van Cassia-Stocco-dos Santos |
| pt | Síndrome de anoftalmia-megalocórnea-cardiopatia-anomalias esqueléticas | Síndrome Cassia-Stocco-dos Santos |
| pl | Anopftalmia - rogówka olbrzymia - kardiopatia - anomalie szkieletowe | Zespół Cassia Stocco dos Santos |
| cs | Syndrom zahrnující anoftalmii, megalokorneu, kardiopatii a anomálie skeletu | Syndrom Stocco dos Santosové |
| uk | Синдром анофтальмії-мегалокорнеа-кардіопатії-скелетних аномалій | Синдром Касії Стокко дос Сантос |
| zh | 无眼畸形-巨角膜-心脏病-骨骼畸形综合征 | Cassia Stocco dos Santos 综合征 |
| tr | Anoftalmi-megalokornea-kardiyopati-iskelet anomalileri sendromu | Cassia Stocco dos Santos sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015230 | E | validated | |
| UMLS | C4304035 | E | validated | |
| GARD | 717 | 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 | 3 cases | Worldwide | Case(s) | Validated | 1415344[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1415344[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
28 annotations · validated 2017-09-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0200007 | Abnormal size of the palpebral fissures | |
| HP:0004327 | Abnormal vitreous humor morphology | |
| HP:0000598 | Abnormality of the ear | |
| HP:0000526 | Aniridia | |
| HP:0000528 | Anophthalmia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000268 | Dolichocephaly | |
| HP:0002705 | High, narrow palate | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0009004 | Hypoplasia of the musculature | |
| HP:0000023 | Inguinal hernia | |
| HP:0000343 | Long philtrum | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000485 | Megalocornea | |
| HP:0001653 | Mitral regurgitation | |
| HP:0000545 | Myopia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001357 | Plagiocephaly | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001704 | Tricuspid valve prolapse | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0001537 | Umbilical hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1101
- This record as JSON: /data/d/1101.json