Microcephaly-micromelia syndrome
Synonyms: MIMIS
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe intrauterine growth retardation, profound microcephaly, dysmorphic craniofacial features (such as craniosynostosis and distinctive facial appearance with short palpebral fissures, broad and beaked nose, microstomia, micrognathia, low-set ears, and short neck), and variable malformations of the limbs, especially the arms. Cardiac, gastrointestinal, and genitourinary anomalies have also been reported. Brain imaging shows gray and white matter abnormalities and hypoplastic or absent corpus callosum. The disease is commonly fatal in the fetal to neonatal period due to respiratory failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-micromelia syndrome | MIMIS |
| fr | Syndrome de microcéphalie-micromélie | = en |
| de | Mikrozephalie-Mikromelie-Syndrom | = en |
| es | Síndrome de microcefalia-micromelia | |
| it | Sindrome da microcefalia e micromelia | = en |
| nl | Microcefalie - micromelie-syndroom | = en |
| pt | Síndrome de microcefalia-micromelia | |
| pl | Zespół małogłowia i mikromelii | = en |
| cs | Syndrom zahrnující mikrocefalii a mikromelii | = en |
| uk | Синдром мікроцефалії-мікромелії | = en |
| zh | 小头畸形-四肢短小综合征 | = en |
| tr | Mikrosefali-mikromeli sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251230 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0009619 | E | validated | |
| MeSH | C565382 | E | validated | |
| UMLS | C1855079 | 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 (1):
- ORPHA:572761DONSON-related microcephaly-short stature-limb abnormalities spectrum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DONSON | Disease-causing germline mutation(s) in | Assessed | HGNC:2993 | ENSG00000159147 | 611428 | 21q22.11 | DNA replication fork stabilization factor DONSON | 28191891[PMID]_28630177[PMID]_31191207[PMID]_31320746[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 32 cases | Worldwide | Case(s) | Validated | 7468660[PMID]_28630177[PMID]_31191207[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_31191207[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/572768
- This record as JSON: /data/d/572768.json