ORPHA:1113
Aphalangy-syndactyly-microcephaly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aphalangy-syndactyly-microcephaly syndrome | |
| fr | Syndrome d'aphalangie-syndactylie-microcéphalie | |
| de | Aphalangie-Syndaktylie-Mikrozephalie-Syndrom | |
| es | Síndrome de afalangia-sindactilia-microcefalia | |
| it | Afalangia - sindattilia - microcefalia | |
| nl | Afalangie - syndactylie - microcefalie-syndroom | |
| pt | Síndrome de afalangia-sindactilia-microcefalia | |
| pl | Brak paliczków - syndaktylia - mikrocefalia | |
| cs | Syndrom zahrnující afalangii, syndaktylii a mikrocefalii | |
| uk | Синдром афалангії-синдактилії-мікроцефалії | |
| zh | 无指（趾）畸形-并指（趾）-小头畸形综合征 | |
| tr | Afalanji-sindaktili-mikrosefali sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600384 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0010882 | E | validated | |
| UMLS | C4304033 | E | validated | |
| GARD | 748 | 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:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 19449409[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19449409[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0000252 | Microcephaly | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001802 | Absent toenail | |
| HP:0001798 | Anonychia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0001839 | Split foot | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0001770 | Toe syndactyly | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1113
- This record as JSON: /data/d/1113.json