ORPHA:1307
Distal limb deficiencies-micrognathia syndrome
Synonyms: 10q24 microduplication syndrome · Buttiens-Fryns syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal limb deficiencies-micrognathia syndrome | 10q24 microduplication syndrome · Buttiens-Fryns syndrome |
| fr | Syndrome d'anomalie des membres-micrognathie | Microduplication 10q24 · Syndrome de Buttiens-Fryns |
| de | Distale Gliedmaßenreduktionen-Mikrognathie-Syndrom | |
| es | Síndrome de deficiencias en las extremidades distales-micrognatia | Síndrome de Buttiens-Fryns · Síndrome microduplicación 10q24 |
| it | Sindrome difetti degli arti-micrognatia | Sindrome da microduplicazione 10q24 · Sindrome di Buttiens-Fryns |
| nl | Distale ledemaatdeficiënties - micrognathie-syndroom | 10q24-microduplicatiesyndroom · Syndroom van Buttiens-Fryns |
| pt | Síndrome de anomalias distais dos membros-micrognatia | Síndrome Buttiens-Fryns |
| pl | Zespół skróconych kończyn dolnych i małożuchwia | Zespół Buttiensa i Frynsa · Zespół mikroduplikacji 10q24 |
| cs | Syndrom zahrnující defekty distálních částí končetin a mikrognatii | Mikroduplikační syndrom 10q24 · Buttiensův-Frynsův syndrom · Buttiens-Frynsův syndrom |
| uk | Синдром дистального ураження кінцівок - мікрогнатії | Синдром мікродуплікації 10q24 · Синдром Баттьєна-Фринса |
| zh | 远端肢体缺如-小颌畸形综合征 | 10q24微重复综合征 |
| tr | Distal ekstremite eksiklikleri-mikrognati sendromu | Buttiens-Fryns sendromu · 10q24 mikro çoğaltma sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246560 | E | validated | |
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.90 | NTBT | index | validated |
| MONDO | 0009525 | E | validated | |
| UMLS | C4302673 | E | validated | |
| GARD | 3252 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262914Partial duplication of the long arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19584065[PMID] |
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 19584065[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.
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HPO phenotypes
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002916 | Abnormality of chromosome segregation | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000308 | Microretrognathia | |
| HP:0012165 | Oligodactyly | |
| HP:0000358 | Posteriorly rotated ears | |
| Frequent (79-30%) | ||
| HP:0003019 | Abnormality of the wrist | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000218 | High palate | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000545 | Myopia | |
| HP:0000160 | Narrow mouth | |
| HP:0000093 | Proteinuria | |
| HP:0000089 | Renal hypoplasia | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000175 | Cleft palate | |
| HP:0000256 | Macrocephaly | |
| HP:0000691 | Microdontia | |
| HP:0000171 | Microglossia | |
| HP:0000639 | Nystagmus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0001839 | Split foot | |
| HP:0008368 | Tarsal synostosis | |
Run the differential on the 7 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1307
- This record as JSON: /data/d/1307.json