Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Synonyms: COMMAD syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare syndromic optic nerve hypoplasia characterized by coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported.
Names in Orphadata languages
11 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome | COMMAD syndrome |
| fr | Syndrome de colobome-microphtalmie-macrocéphalie-albinisme-surdité | Syndrome COMMAD |
| de | Kolobom-Osteopetrose-Mikrophthalmie-Makrozephalie-Albinismus-Schwerhörigkeit-Syndrom | COMMAD-Syndrom |
| es | Síndrome de coloboma-osteopetrosis-microftalmia-macrocefalia-albinismo-sordera | Síndrome COMMAD |
| it | Sindrome da coloboma-osteopetrosi-microftalmia-macrocefalia-albinismo-sordità | Sindrome COMMAD |
| nl | Coloboom - osteopetrose - microftalmie - macrocefalie - albinisme - doofheid-syndroom | COMMAD-syndroom |
| pt | Síndrome de coloboma-osteopetrose-microftalmia-macrocefalia-albinismo-surdez | Síndrome COMMAD |
| pl | Zespół wrodzonego rozszczepu tęczówki-osteopetrozy-małoocza-wielkogłowia-albinizmu-głuchoty | = en |
| cs | Syndrom zahrnující kolobom, osteopetrózu, mikroftalmii, makrocefalii, albinismus a hluchotu | = en |
| uk | Синдром колобоми-остеопетрозу-мікрофтальмії-макроцефалії-альбінізму-глухоти | Синдром COMMAD |
| tr | Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617306 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015014 | E | validated | |
| UMLS | C4310625 | 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 (5):
- ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:284811Syndromic oculocutaneous albinism
rare genetic diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:137905Syndromic optic nerve hypoplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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 | 2 cases | Worldwide | Case(s) | Validated | 27889061[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27889061[PMID]_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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/603494
- This record as JSON: /data/d/603494.json