Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Synonyms: Microphthalmia-coloboma-rhizomelic skeletal dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | Microphthalmia-coloboma-rhizomelic skeletal dysplasia |
| fr | Syndrome de microphtalmie colobomateuse-dysplasie rhizomélique | Syndrome de microphtalmie-colobome-dysplasie rhizomélique |
| de | Kolobomatöse Mikrophthalmie-rhizomele Dysplasie-Syndrom | Mikrophthalmie-Kolobom-rhizomele Skelettdysplasie-Syndrom |
| es | Síndrome de microftalmia colobomatosa-displasia rizomélica | Microftalmia-coloboma-displasia esquelética rizomélica |
| it | Sindrome microftalmia colobomatosa-displasia rizomelica | Microftalmia - coloboma - displasia scheletrica rizomelica |
| nl | Colobomateuze microftalmie - rhizomele dysplasie-syndroom | Microftalmie - coloboom - rhizomele skeletdysplasie |
| pt | Síndrome de microftlamia colobomatosa-displasia rizomélica | |
| pl | Zespół małoocza ze szczeliną gałki ocznej i dysplazji rizomelicznej | Małoocze - szczelina oka - dysplazja rizomeliczna |
| cs | Syndrom zahrnující mikroftalmii s kolobomy a rhizomelickou dysplázii | Mikroftalmie, kolobom a rhizomelická skeletální dysplázie |
| uk | Синдром колобоматозної мікрофтальмії-ризомелічної дисплазії | Мікрофтальмія-колобома-ризомелічна скелетна дисплазія |
| zh | 缺损性小眼球-肢根发育不良综合征 | 小眼球-眼球缺损-肢根发育不良 |
| tr | Kolobomatöz mikroftalmi-rizomelik displazi sendromu | Mikroftalmi-kolobom-rizomelik iskelet displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615877 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | attributed | validated |
| MONDO | 0014380 | E | validated | |
| UMLS | C4707229 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAB21L2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6758 | ENSG00000181541 | 604357 | 4q31.3 | mab-21 like 2 | 24906020[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | 24906020[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24906020[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/424099
- This record as JSON: /data/d/424099.json