ORPHA:85201
Genitopatellar syndrome
Synonyms: Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Genitopatellar syndrome | Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome |
| fr | Syndrome génito-patellaire | Syndrome de rotule absente-hypoplasie scrotale-anomalies rénales-dysmorphie faciale-déficience intellectuelle |
| de | Genito-patellares Syndrom | Patellaaplasie-Skrotumhypoplasie-Nierenanomalien-Geischtsdysmorphien-Intelligenzminderung-Syndrom |
| es | Síndrome genitopatelar | Síndrome de ausencia de rótula-hipoplasia escrotal-anomalías renales-dismorfia facial-discapacidad intelectual |
| it | Sindrome genitorotulea | Sindrome rotule assenti- ipoplasia scrotale-anomalie renali-dismorfismi facciali- disabilità intellettiva |
| nl | Genitopatellair syndroom | Afwezige patellae - hypoplasie van scrotum - nieranomalieën - faciale dysmorfie - intellectuele achterstand-syndroom |
| pt | Síndrome genitorrotuliano | Síndrome de rótulas ausentes-hipoplasia escrotal-anomalias renais-dismorfia facial-perturbação do desenvolvimento intelectual |
| pl | Zespół płciowo-rzepkowy | Brak rzepki - hipoplazja moszny - wady nerek - dysmorfia twarzy - niepełnosprawność intelektualna |
| cs | Genitopatelární syndrom | Syndrom zahrnující absenci patel, skrotální hypoplázii, renální anomálie, faciální dysmorfismus a mentální retardaci |
| uk | Генітопателлярний синдром | Синдром відсутності колінних чашечок - гіпоплазії мошонки - аномалії нирок - дизморфізму обличчя - інтелектуальної недостатності |
| zh | 生殖器-髌骨综合征 | 髌骨缺如-阴囊发育不全-肾畸形-面部畸形-智力障碍综合征 |
| tr | Genitopatellar sendrom | Patella yokluğu-skrotal hipoplazi-böbrek anomalileri-fasiyal dismorfizm-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606170 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011640 | E | validated | |
| MeSH | C565255 | E | validated | |
| UMLS | C1853566 | E | validated | |
| GARD | 10994 | 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 (1):
- ORPHA:597749KAT6B-related multiple congenital anomalies syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare urogenital diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KAT6B | Disease-causing germline mutation(s) in | Assessed | HGNC:17582 | ENSG00000156650 | 605880 | 10q22.2 | lysine acetyltransferase 6B | 23236640[PMID]_22265017[PMID]_22265014[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 22265014[PMID]_22265017[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22265014[PMID]_22265017[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
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000280 | Coarse facial features | |
| HP:0000028 | Cryptorchidism | |
| HP:0001263 | Global developmental delay | |
| HP:0003273 | Hip contracture | |
| HP:0000126 | Hydronephrosis | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0003175 | Hypoplastic ischia | |
| HP:0001249 | Intellectual disability | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000252 | Microcephaly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0006443 | Patellar aplasia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000448 | Prominent nose | |
| HP:0004279 | Short palm | |
| HP:0000046 | Small scrotum | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002213 | Fine hair | |
| HP:0000316 | Hypertelorism | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0001250 | Seizure | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0002104 | Apnea | |
| HP:0001631 | Atrial septal defect | |
| HP:0011968 | Feeding difficulties | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0004322 | Short stature | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 10882755[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85201
- This record as JSON: /data/d/85201.json