Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome | |
| fr | Syndrome de dysmorphie-macrocéphalie-myopie-malformation de Dandy-Walker | |
| de | Gesichtsdysmorphie-Makrozephalie-Myopie-Dandy-Walker-Fehlbildung-Syndrom | |
| es | Síndrome de dismorfia facial-macrocefalia-miopía-malformación de Dandy-Walker | |
| it | Sindrome da dismorfismo facciale-macrocefalia-miopia-malformazione di Dandy Walker | |
| nl | Faciale dysmorfie - macrocefalie - myopie - Dandy-Walker malformatie-syndroom | |
| pt | Síndrome de dismorfia facial-macrocefalia-miopia-malformação de Dandy-Walker | |
| pl | Dysmorfia twarzy - makrocefalia - miopia - malformacja Dandy'ego-Walkera | |
| cs | Syndrom zahrnující faciální dysmorfismus, makrocefalii, myopii a Dandyho-Walkerovu malformaci | Syndrom zahrnující faciální dysmorfismus, makrocefalii, myopii a Dandy-Walkerovu malformaci |
| uk | Синдром дисморфізму обличчя-макроцефалії-міопії-мальформації Денді-Уокера | |
| zh | 面部畸形-大头-近视-Dandy-Walker畸形综合征 | |
| tr | Yüz dismorfizmi-makrosefali-miyopi-Dandy-Walker malformasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220219 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009074 | E | validated | |
| UMLS | C4518773 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
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 | 2591071[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2591071[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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000337 | Broad forehead | |
| HP:0001821 | Broad nail | |
| HP:0000280 | Coarse facial features | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000286 | Epicanthus | |
| HP:0001099 | Fundus atrophy | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0000348 | High forehead | |
| HP:0001007 | Hirsutism | |
| HP:0006887 | Intellectual disability, progressive | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000256 | Macrocephaly | |
| HP:0000545 | Myopia | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002650 | Scoliosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001276 | Hypertonia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0001252 | Hypotonia | |
| HP:0000046 | Small scrotum | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1970
- This record as JSON: /data/d/1970.json