ORPHA:488232
Split-foot malformation-mesoaxial polydactyly syndrome
Synonyms: SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Split-foot malformation-mesoaxial polydactyly syndrome | SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome |
| fr | Syndrome de pieds fendus-polydactylie mésoaxiale | SFMMP · Syndrome de pieds fendus-polydactylie mésoaxiale-surdité neurosensorielle |
| de | Spaltfuß-Fehlbildung-mesoaxiale Polydaktylie-Syndrom | SFMMP-Syndrom · Spaltfuß-Fehlbildung-mesoaxiale Polydaktylie-Nagelanomalien-sensorineuraler Hörverlust-Syndrom |
| es | Síndrome de malformación de pie hendido-polidactilia mesoaxial | SFMMP · Síndrome de malformación de pie hendido-polidactilia mesoaxial-anomalías de las uñas-hipoacusia neurosensorial |
| it | Sindrome schisi del piede-polidattilia mesoassiale | |
| nl | Gespleten voet-misvorming - meso-axiale polydactylie-syndroom | Gespleten voet-misvorming - meso-axiale polydactylie - nagelafwijkingen - sensorineuraal gehoorverlies-syndroom · SFMMP |
| pt | Síndrome de malformação de pé fendido-polidactilia mesoaxial | |
| pl | Zespół rozszczepienia stopy - polidaktylii promienia środkowego | = en |
| cs | Syndrom zahrnující rozštěp nohy a mezoaxiální polydaktylii | SFMMP · Syndrom zahrnující rozštěp nohy, mezoaxiální polydaktylii, nehtové abnormality a senzorineurální ztrátu sluchu |
| uk | Синдром розщепленої стопи - мезоаксіальна полідактилія | SFMMP · Синдром розщепленої стопи - мезоаксіальної полідактилії - аномалії нігтів - сенсоневральної приглухуватості |
| zh | 足裂畸形-中轴多指综合征 | = en |
| tr | Split-foot malformasyon-mezoaksiyal polidaktili sendromu | Split-foot malformasyonu-mezoaksiyal polidaktili-tırnak anormallikleri-sensörinöral işitme kaybı sendromu · SFMMP |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616890 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0014816 | E | validated | |
| UMLS | C5567487 | 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 (7):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological 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 - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAP3K20 | Disease-causing germline mutation(s) in | Assessed | HGNC:17797 | ENSG00000091436 | 609479 | 2q31.1 | mitogen-activated protein kinase kinase kinase 20 | 26755636[PMID] |
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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_26755636[PMID] |
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26755636[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
13 annotations · validated 2022-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008619 | Bilateral sensorineural hearing impairment | |
| HP:0001839 | Split foot | |
| Frequent (79-30%) | ||
| HP:0005767 | 1-2 toe complete cutaneous syndactyly | |
| HP:0010711 | 1-2 toe syndactyly | |
| HP:0004692 | 4-5 toe syndactyly | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0010413 | Aplasia/Hypoplasia of the distal phalanx of the 2nd toe | |
| HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | |
| HP:0010359 | Aplasia/Hypoplasia of the phalanges of the 3rd toe | |
| HP:0010371 | Aplasia/Hypoplasia of the phalanges of the 4th toe | |
| HP:0010383 | Aplasia/Hypoplasia of the phalanges of the 5th toe | |
| HP:0010112 | Mesoaxial foot polydactyly | |
| HP:0100483 | Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26755636[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488232
- This record as JSON: /data/d/488232.json