Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | |
| fr | Syndrome de microcéphalie-dysmorphie faciale-anomalies oculaires-anomalies congénitales multiples | |
| de | Mikrozephalie-Gesichtsdysmorphie-okuläre Anomalien-multiple kongenitale Anomalien-Syndrom | |
| es | Síndrome de microcefalia-dismorfia facial-anomalías oculares-anomalías congénitas múltiples | |
| it | Sindrome microcefalia - dismorfismi facciali - anomalie oculari - anomalie congenite multiple | |
| nl | Microcefalie - faciale dysmorfie - oculaire anomalieën - multipele congenitale anomalieën-syndroom | |
| pt | Síndrome de microcefalia-dismorfia facial-anomalias oculares-anomalias congénitas múltiplas | |
| pl | Zespół małogłowia-dysmorfii twarzy-wad oczu-licznych wad wrodzonych | |
| cs | Syndrom zahrnující mikrocefalii, faciální dysmorfismus, oční vady a mnohočetné vrozené vady | |
| uk | Синдром мікроцефалії-дизморфізму обличчя-аномалій очей-множинних вроджених аномалій | |
| zh | 小头畸形-面部畸形-眼球异常-多发性先天畸形综合征 | |
| tr | Mikrosefali-yüz dismorfizmi-oküler anomaliler-çoklu doğumsal anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0035027 | E | validated | |
| UMLS | C5681443 | 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 (3):
- ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:102006Neurovascular malformation
rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADAMTSL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14632 | ENSG00000178031 | 609198 | 9p22.2-p22.1 | ADAMTS like 1 | 28722276[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 28722276[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28722276[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
27 annotations · validated 2019-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0010490 | Abnormality of the palmar creases | |
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0000248 | Brachycephaly | |
| HP:0000557 | Buphthalmos | |
| HP:0001848 | Calcaneovalgus deformity | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0000696 | Delayed eruption of permanent teeth | |
| HP:0012448 | Delayed myelination | |
| HP:0100807 | Long fingers | |
| HP:0000400 | Macrotia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0002076 | Migraine | |
| HP:0000545 | Myopia | |
| HP:0000787 | Nephrolithiasis | |
| HP:0008007 | Primary congenital glaucoma | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000541 | Retinal detachment | |
| HP:0000558 | Rieger anomaly | |
| HP:0000322 | Short philtrum | |
| HP:0000321 | Square face | |
| HP:0001182 | Tapered finger | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0005990 | Thyroid hypoplasia | |
| HP:0020038 | Vertebrobasilar dolichoectasia | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 28722276[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/521445
- This record as JSON: /data/d/521445.json