Split hand-split foot-deafness syndrome
Synonyms: Split hand-split foot-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Split hand-split foot-deafness syndrome | Split hand-split foot-hearing loss syndrome |
| fr | Syndrome de mains et pieds fendus-surdité | |
| de | Spalthand - Spaltfuß - Schwerhörigkeit | |
| es | Síndrome de mano hendida-pie hendido-sordera | Síndrome de mano hendida-pie hendido-hipoacusia |
| it | Mani e piedi a chela - sordità | |
| nl | Gespleten hand - gespleten voet - doofheid-syndroom | Gespleten hand - gespleten voet - gehoorverlies-syndroom |
| pt | Síndrome de mão fendida-pé fendido-surdez | Ectrodactilia de mãos e pés-surdez |
| pl | Rozszczep ręki - rozszczep stopy - głuchota | = en |
| cs | Syndrom zahrnující ektrodaktylii a hluchotu | = en |
| uk | Синдром розщепленої кисті-розщепленої стопи-глухоти | Синдром розщепленої руки-розщепленої ноги- втрати слуху |
| zh | 分裂手-分裂足-耳聋综合征 | 裂手-裂足-听力丧失综合征 |
| tr | Yarık el-yarık ayak-sağırlık sendromu | Ayrık el-ayrık ayak işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220600 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009080 | E | validated | |
| MeSH | C565647 | E | validated | |
| UMLS | C1857344 | 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 (6):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2918 | ENSG00000105880 | 600028 | 7q21.3 | distal-less homeobox 5 | 22121204[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71271
- This record as JSON: /data/d/71271.json