Potocki-Shaffer syndrome
Synonyms: 11p11.2 deletion · Proximal 11p deletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Potocki-Shaffer syndrome | 11p11.2 deletion · Proximal 11p deletion syndrome |
| fr | Syndrome de Potocki-Shaffer | Délétion 11p11.2 · Délétion proximale 11p |
| de | Potocki-Shaffer-Syndrom | Deletion 11p11.2 · Proximales 11p-Deletionssyndrom |
| es | Síndrome de Potocki-Shaffer | Deleción 11p11.2 · Síndrome de deleción proximal 11p |
| it | Sindrome di Potocki-Shaffer | Delezione 11p11.2 · Sindrome da delezione 11p prossimale |
| nl | Syndroom van Potocki-Shaffer | 11p11.2-deletie · Proximale 11p-deletiesyndroom |
| pt | Síndrome de Potocki-Shaffer | Deleção 11p11.2 · Síndrome deleção 11p proximal |
| pl | Zespół Potockiego i Shaffera | Delecja 11p11.2 · Zespół proksymalnej delecji 11p |
| cs | Potocké-Shafferové syndrom | Delece 11p11.2 · Syndrom proximální delece 11p · Potocki-Shafferové syndrom |
| uk | Синдром Потоцького-Шаффера | Делеція 11p11.2 · Синдром проксимальної делеції 11p |
| zh | Potocki-Shaffer综合征 | 11号染色体短臂近端缺失综合征 |
| tr | Potocki-Shaffer sendromu | 11p11.2 delesyonu · Proksimal 11p delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601224 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.B1 | NTBT | index | validated |
| MONDO | 0011022 | E | validated | |
| MeSH | C538356 | E | validated | |
| UMLS | C1832588 | E | validated | |
| GARD | 9762 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:261947Partial deletion of the short arm of chromosome 11 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ALX4 | Role in the phenotype of | Assessed | HGNC:450 | ENSG00000052850 | 605420 | 11p11.2 | ALX homeobox 4 | 15852040[PMID] |
| EXT2 | Role in the phenotype of | Assessed | HGNC:3513 | ENSG00000151348 | 608210 | 11p11.2 | exostosin glycosyltransferase 2 | 15852040[PMID] |
| PHF21A | Role in the phenotype of | Assessed | HGNC:24156 | ENSG00000135365 | 608325 | 11p11.2 | PHD finger protein 21A | 22770980[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 23239541[PMID]_15852040[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23239541[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.
HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0000455 | Broad nasal tip | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000437 | Depressed nasal tip | |
| HP:0000286 | Epicanthus | |
| HP:0100777 | Exostoses | |
| HP:0001263 | Global developmental delay | |
| HP:0000347 | Micrognathia | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000430 | Underdeveloped nasal alae | |
| Frequent (79-30%) | ||
| HP:0002714 | Downturned corners of mouth | |
| HP:0000054 | Micropenis | |
| HP:0000639 | Nystagmus | |
| HP:0002697 | Parietal foramina | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0000823 | Delayed puberty | |
| HP:0000822 | Hypertension | |
| HP:0000821 | Hypothyroidism | |
| HP:0001249 | Intellectual disability | |
| HP:0002667 | Nephroblastoma | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 20140962[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52022
- This record as JSON: /data/d/52022.json