Microgastria-limb reduction defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microgastria-limb reduction defect syndrome | |
| fr | Syndrome de microgastrie-anomalie des membres | |
| de | Mikrogastrie-Extremitätenreduktionsdefekt-Syndrom | Mikrogastrie mit Gliedmaßen-Reduktionsdefekt |
| es | Síndrome de microgastria-anomalía de reducción de las extremidades | |
| it | Sindrome microgastria-difetto in riduzione degli arti | |
| nl | Microgastrie - reductiedefect van ledemaat-syndroom | |
| pt | Síndrome de microgastria-defeitos de redução dos membros | |
| pl | Mały żołądek - wada ubytkowa kończyny | |
| cs | Syndrom zahrnující mikrogastrii a redukční defekty končetin | |
| uk | Синдром мікрогастрію-редукції кінцівок | |
| zh | 小胃-肢体短缩畸形综合征 | |
| tr | Mikrogastri-ekstremite redüksiyonu defekti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156810 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007993 | E | validated | |
| MeSH | C537554 | E | validated | |
| UMLS | C4303067 | E | validated | |
| GARD | 3640 | 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 (2):
- ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:108965Syndromic gastroduodenal malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical 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 | 16 cases | Worldwide | Case(s) | Validated | 12072798[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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
48 annotations · validated 2017-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0001743 | Abnormality of the spleen | |
| HP:0100633 | Esophagitis | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001510 | Growth delay | |
| HP:0002036 | Hiatus hernia | |
| HP:0100841 | Microgastria | |
| HP:0009778 | Short thumb | |
| Frequent (79-30%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0002007 | Frontal bossing | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001357 | Plagiocephaly | |
| HP:0011220 | Prominent forehead | |
| HP:0000110 | Renal dysplasia | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002536 | Abnormal cortical gyration | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0004050 | Absent hand | |
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0009827 | Amelia | |
| HP:0002023 | Anal atresia | |
| HP:0000528 | Anophthalmia | |
| HP:0006660 | Aplastic clavicles | |
| HP:0002139 | Arrhinencephaly | |
| HP:0001631 | Atrial septal defect | |
| HP:0004736 | Crossed fused renal ectopia | |
| HP:0100257 | Ectrodactyly | |
| HP:0003042 | Elbow dislocation | |
| HP:0002032 | Esophageal atresia | |
| HP:0002240 | Hepatomegaly | |
| HP:0000085 | Horseshoe kidney | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000568 | Microphthalmia | |
| HP:0012165 | Oligodactyly | |
| HP:0004871 | Perineal fistula | |
| HP:0009829 | Phocomelia | |
| HP:0025023 | Rectal atresia | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0000104 | Renal agenesis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0001660 | Truncus arteriosus | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2538
- This record as JSON: /data/d/2538.json