Mesoaxial synostotic syndactyly with phalangeal reduction
Synonyms: MSSD · Syndactyly type 9 · Syndactyly, Malik-Percin type
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesoaxial synostotic syndactyly with phalangeal reduction | MSSD · Syndactyly type 9 · Syndactyly, Malik-Percin type |
| fr | Syndactylie mésoaxiale synostosique avec réduction phalangienne | MSSD · Syndactylie type 9 · Syndactylie type Malik-Percin |
| de | Mesoaxiale synostotische Syndaktylie mit phalangealer Reduktion | Syndaktylie Typ 9 · Syndaktylie Typ Malik-Percin |
| es | Sindactilia mesoaxial sinostótica con reducción de las falanges | MSSD · Sindactilia tipo 9 · Sindactilia tipo Malik-Percin |
| it | Sindattilia sinostosica mesoassiale con riduzione delle falangi | MSSD · Sindattilia, tipo 9 · Sindattilia, tipo Malik-Percin |
| nl | Mesoaxiale synostotische syndactylie met falangeale reductie | MSSD · Syndactylie type 9 · Syndactylie, Malik-Percin-type |
| pt | Sindactilia sinostótica mesoaxial com redução das falanges | |
| pl | Syndaktylia międzyosiowa ze skróceniem paliczków | MSSD · Syndaktylia typu 9 · Syndaktylia, typ Malika i Percina |
| cs | Mesoaxiální synostotická syndaktylie s redukcí falangů | MSSD · Syndaktylie, typ 9 · Syndaktylie, typ Malikův-Percinové · Syndaktylie, typ Malik-Percinové |
| uk | Мезоаксіальна синостотична синдактилія з редукцією фаланг пальців | MSSD · Синдактилія типу 9 · Синдактилія, тип Маліка-Персена |
| zh | 骨性融合并指联合指骨骨量减少症 | 并指Malik-Percin型 |
| tr | Falangeal redüksiyon ile seyreden mezoaksiyal sinostotik sindaktili | MSSD · Sindaktili tip 9 · Sindaktili, Malik-Percin tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609432 | E | validated | |
| ICD-10 | Q70.0 | NTBT | attributed | validated |
| ICD-10 | Q70.2 | NTBT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0012271 | E | validated | |
| UMLS | C1836206 | E | validated | |
| GARD | 10590 | 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:90025Non-syndromic syndactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BHLHA9 | Disease-causing germline mutation(s) in | Assessed | HGNC:35126 | ENSG00000205899 | 615416 | 17p13.3 | basic helix-loop-helix family member a9 | 25466284[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 families | Worldwide | Family(ies) | Validated | 25466284[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
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0008362 | Aplasia/Hypoplasia of the hallux | |
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006101 | Finger syndactyly | |
| HP:0009701 | Metacarpal synostosis | |
| HP:0010109 | Short hallux | |
| HP:0004279 | Short palm | |
| HP:0009778 | Short thumb | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0005048 | Synostosis of carpal bones | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 9783716[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157801
- This record as JSON: /data/d/157801.json