X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Synonyms: X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome | X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome |
| fr | Syndrome de microphtalmie colobomateuse-microcéphalie-déficience intellectuelle-petite taille liée à l'X | Syndrome de microphtalmie colobomateuse-microcéphalie-petite taille-retard psychomoteur liée à l'X |
| de | X-chromosomale kolobomatöse Mikrophthalmie-Mikrozephalie-Intelligenzminderung-Kleinwuchs-Syndrom | |
| es | Síndrome de microftalmia colobomatosa-microcefalia-discapacidad intelectual-talla baja ligado al cromosoma X | Síndrome de microftalmia colobomatosa-microcefalia-talla baja-retraso psicomotor ligado al cromosoma X |
| it | Sindrome microftalmia colobomatosa-microcefalia-disabilità intellettiva-bassa statura legata all'X | |
| nl | X-gebonden colobomateuze microftalmie - microcefalie - intellectuele achterstand - kleine gestalte-syndroom | X-gebonden colobomateuze microftalmie - microcefalie - kleine gestalte - psychomotorische achterstand-syndroom |
| pt | Síndrome de microftalmia colobomatosa-microcefalia-perturbação do desenvolvimento intelectual-baixa estatura ligada ao X | Síndrome de microftalmia colobomatosa-microcefalia-baixa estatura-atraso psicomotor ligada ao X |
| pl | Zespół szczelinowatego małoocza, małogłowia, niepełnosprawności intelektualnej i niskiego wzrostu sprzężony z chromosomem X | Zespół szczelinowatego małoocza, małogłowia, niskiego wzrostu i opóźnienia psychoruchowego sprzężony z chromosomem X |
| cs | X-vázaný syndrom zahrnující mikroftalmii s kolobomy, mikrocefalii, mentální retardaci a malý vzrůst | = en |
| uk | Х-зчеплений синдром колобоматозної мікрофтальмії-мікроцефалії-інтелектуальної недостатності-низькорослості | Х-зчеплений синдром колобоматозної мікрофтальмії - мікроцефалії - низькорослості - затримки психомоторного розвитку |
| zh | X连锁遗传性缺损性小眼球-小头-智力障碍-身材矮小综合征 | X连锁缺损性小眼球-小头畸形-身材矮小-精神运动障碍综合征 |
| tr | X'e bağlı kolobomatöz mikroftalmi-mikrosefali-zihinsel yetersizlik-kısa boy sendromu | X'e bağlı kolobomatöz mikroftalmi-mikrosefali-kısa boy-psikomotor retardasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300915 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0010485 | E | validated | |
| UMLS | C4749694 | 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:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - 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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 4998085[PMID]_24993872[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4998085[PMID]_24993872[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/431140
- This record as JSON: /data/d/431140.json