ORPHA:3041
Intellectual disability-balding-patella luxation-acromicria syndrome
Synonyms: Scholte-Begeer-van Essen syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-balding-patella luxation-acromicria syndrome | Scholte-Begeer-van Essen syndrome |
| fr | Syndrome de déficience intellectuelle-calvitie-luxation de la rotule-acromicrie | Syndrome de Scholte-Begeer-van Essen |
| de | Intelligenzminderung-Glatzenbildung-Patellaluxation-Akromikrie-Syndrom | Scholte-Begeer-van Essen-Syndrom |
| es | Síndrome de discapacidad intelectual-calvicie-luxación de rótula-acromicria | Síndrome de Scholte-Begeer-Van Essen |
| it | Sindrome disabilità intellettiva-calvizie-lussazione della rotula-acromicria | Sindrome di Scholte-Begeer-Van Essen |
| nl | Intellectuele achterstand - kaalheid - luxatie van patella - acromicrie-syndroom | Syndroom van Scholte-Begeer-van Essen |
| pt | Síndrome de perturbação do desenvolvimento intelectual-alopecia do couro cabeludo-luxação da rótula-acromicria | Síndrome Scholte-Begeer-van Essen |
| pl | Niepełnosprawność intelektualna - łysienie - zwichnięcie rzepki - akromikria | Zespół Scholte, Begeera i van Essena |
| cs | Syndrom zahrnující mentální retardaci, ztrátu vlasů, luxaci čéšky a akromikrii | Scholteův-Begeerův-van Essenův syndrom · Scholte-Begeer-van Essenův syndrom |
| uk | Синдром інтелектуальної недостатності-облисіння-вивиху надколінка-акромікрії | Синдром Шолте-Бегера-ван-Ессена |
| zh | 智力障碍-秃顶-髌骨脱臼-肢端过小症综合征 | Scholte-Begeer-van Essen综合征 |
| tr | Zihinsel yetersizlik-saç dökülmesi-patella çıkığı-akromikri sendromu | Scholte-Begeer-van Essen sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300977 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.8Y | NTBT | index | validated |
| MONDO | 0010505 | E | validated | |
| MeSH | C536638 | E | validated | |
| UMLS | C1866985 | E | validated | |
| GARD | 257 | 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 (3):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 2002488[PMID]_8487281[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2002488[PMID]_8487281[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
54 annotations · validated 2019-03-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003086 | Acromesomelia | |
| HP:0000455 | Broad nasal tip | |
| HP:0000490 | Deeply set eye | |
| HP:0002234 | Early balding | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002292 | Frontal balding | |
| HP:0000348 | High forehead | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000233 | Thin vermilion border | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000635 | Blue irides | |
| HP:0000414 | Bulbous nose | |
| HP:0003199 | Decreased muscle mass | |
| HP:0008734 | Decreased testicular size | |
| HP:0003241 | External genital hypoplasia | |
| HP:0008947 | Floppy infant | |
| HP:0000135 | Hypogonadism | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000054 | Micropenis | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0010499 | Patellar subluxation | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| HP:0001250 | Seizure | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0004692 | 4-5 toe syndactyly | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0000268 | Dolichocephaly | |
| HP:0001310 | Dysmetria | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0005469 | Flat occiput | |
| HP:0030044 | Flexion contracture of digit | |
| HP:0002378 | Hand tremor | |
| HP:0000218 | High palate | |
| HP:0001187 | Hyperextensibility of the finger joints | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0008414 | Lumbar kyphosis in infancy | |
| HP:0001840 | Metatarsus adductus | |
| HP:0011800 | Midface retrusion | |
| HP:0001761 | Pes cavus | |
| HP:0011220 | Prominent forehead | |
| HP:0000411 | Protruding ear | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000742 | Self-mutilation | |
| HP:0000322 | Short philtrum | |
| HP:0001831 | Short toe | |
| HP:0002313 | Spastic paraparesis | |
| HP:0002942 | Thoracic kyphosis | |
| HP:0002944 | Thoracolumbar scoliosis | |
| HP:0001956 | Truncal obesity | |
Run the differential on the 11 obligate / very frequent terms
Annotation source: 20624501[PMID]_8487281[PMID]_2002488[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3041
- This record as JSON: /data/d/3041.json