ORPHA:2473
McKusick-Kaufman syndrome
Synonyms: Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic syndrome with multiple congenital anomalies characterized by urogenital malformations, mainly hydrometrocolpos (HMC) in females, postaxial polydactyly (PAP) and congenital heart disease (CHD). The disorder is allelic with Bardet-Biedl syndrome 6 (BBS6).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | McKusick-Kaufman syndrome | Hydrometrocolpos-postaxial polydactyly syndrome · Kaufman-Mckusick syndrome |
| fr | Syndrome de McKusick-Kaufman | Syndrome d'hydrométrocolpos-polydactylie |
| de | McKusick-Kaufman-Syndrom | Hydrometrokolpos - Polydaktylie |
| es | Síndrome de McKusick Kaufman | |
| it | Sindrome di McKusick-Kaufman | Idrometrocolpo - polidattilia |
| nl | Syndroom van McKusick-Kaufman | Hydrometrocolpos - postaxiale polydactylie-syndroom · Syndroom van Kaufman-McKusick |
| pt | Síndrome Mckusick-Kaufman | Síndrome Kaufman-Mckusick |
| pl | Zespół McKusicka i Kaufmana | Hydrometrocolpos - polidaktylia zaosiowa · Zespół Kaufmana i McKusicka |
| cs | McKusickův-Kaufmanův syndrom | Syndrom zahrnující hydrometrokolpos a postaxiální polydaktylii · MKKS syndrom · Kaufmanův-McKusickův syndrom · McKusick-Kaufmanův syndrom · Kaufman-McKusickův syndrom |
| uk | Синдром МакКьюсіка-Кауфмана | Синдром гідрометрокольпосно-постаксіальної полідактилії · Синдром Кауфмана-Маккузіка |
| zh | McKusick-Kaufman综合征 | 子宫阴道积水-轴后性多指症综合征 |
| tr | McKusick-Kaufman sendromu | Kaufman-Mckusick sendromu · Hidrometrokolpos-postaksiyal polidaktili sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236700 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 9B70 | NTBT | index | validated |
| MONDO | 0009367 | E | validated | |
| MeSH | C538159 | E | validated | |
| UMLS | C0948368 | E | validated | |
| GARD | 3427 | E | validated | |
| MedDRA | 10052312 | 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 (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156162Renal ciliopathy
rare genetic diseases - ORPHA:156183Retinal ciliopathy due to mutation in Bardet-Biedl gene
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MKKS | Disease-causing germline mutation(s) in | Assessed | HGNC:7108 | ENSG00000125863 | 604896 | 20p12.2 | MKKS centrosomal shuttling protein | 20301675[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_20301675[PMID] |
| Cases/families | 90 cases | Worldwide | Case(s) | Validated | 20301675[PMID] | |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Specific population | Value and class | Validated | 20301675[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030010 | Hydrometrocolpos | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000807 | Glandular hypospadias | |
| HP:0000126 | Hydronephrosis | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0100779 | Urogenital sinus anomaly | |
| Occasional (29-5%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0002023 | Anal atresia | |
| HP:0001631 | Atrial septal defect | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0004397 | Ectopic anus | |
| HP:0001508 | Failure to thrive | |
| HP:0006101 | Finger syndactyly | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001249 | Intellectual disability | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001830 | Postaxial foot polydactyly | |
| HP:0004322 | Short stature | |
| HP:0008368 | Tarsal synostosis | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0012227 | Urethral stricture | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0008678 | Renal hypoplasia/aplasia | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2473
- This record as JSON: /data/d/2473.json