Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Synonyms: Primrose syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-cataracts-calcified pinnae-myopathy syndrome | Primrose syndrome |
| fr | Syndrome de déficience intellectuelle-cataracte-calcification du pavillon auriculaire-myopathie | Syndrome de Primrose |
| de | Intelligenzminderung-Katarakt-kalzifizierte Ohrknorpel-Myopathie-Syndrom | Primrose-Syndrom |
| es | Síndrome de discapacidad intelectual-cataratas-calcificación auricular-miopatía | Síndrome de Primrose |
| it | Sindrome disabilità intellettiva-cataratta-calcificazione del padiglione dell'orecchio-miopatia | Sindrome di Primrose |
| nl | Intellectuele achterstand - cataract - verkalkte oorschelpen - myopathie-syndroom | Syndroom van Primrose |
| pt | Síndrome de perturbação do desenvolvimento intelectual-cataratas-calcificações das cartilagens auriculares-miopatia | Síndrome Primrose |
| pl | Niepełnosprawność intelektualna - zaćma- zwapnienie małżowiny usznej - miopatia | Zespół Primrose'a |
| cs | Syndrom zahrnující mentální postižení, kataraktu, kalcifikaci ušních boltců a myopatii | Primroseův syndrom |
| uk | Синдром інтелектуальної недостатності-катаракти-кальцифікатів зовнішнього вуха-міопатії | Синдром первоцвіту |
| zh | 智力障碍-白内障-耳廓钙化-肌病综合征 | Primrose综合征 |
| tr | Zihinsel yetersizlik-katarakt-kalsifiye pinna-miyopati sendromu | Primrose sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259050 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009798 | E | validated | |
| MeSH | C536420 | E | validated | |
| UMLS | C0796121 | E | validated | |
| GARD | 4488 | 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 (4):
- 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZBTB20 | Disease-causing germline mutation(s) in | Assessed | HGNC:13503 | ENSG00000181722 | 606025 | 3q13.31 | zinc finger and BTB domain containing 20 | 25017102[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 27061120[PMID]_28462983[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28462983[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
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0001903 | Anemia | |
| HP:0012062 | Bone cyst | |
| HP:0005103 | Calcification of the auricular cartilage | |
| HP:0000518 | Cataract | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0002376 | Developmental regression | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0003273 | Hip contracture | |
| HP:0000238 | Hydrocephalus | |
| HP:0000135 | Hypogonadism | |
| HP:0001249 | Intellectual disability | |
| HP:0003301 | Irregular vertebral endplates | |
| HP:0002808 | Kyphosis | |
| HP:0000400 | Macrotia | |
| HP:0003198 | Myopathy | |
| HP:0002797 | Osteolysis | |
| HP:0005121 | Posterior scalloping of vertebral bodies | |
| HP:0002650 | Scoliosis | |
| Frequent (79-30%) | ||
| HP:0001798 | Anonychia | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000771 | Gynecomastia | |
| HP:0011800 | Midface retrusion | |
| HP:0000774 | Narrow chest | |
| HP:0002868 | Narrow iliac wings | |
| HP:0000767 | Pectus excavatum | |
| HP:0001357 | Plagiocephaly | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000664 | Synophrys | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3042
- This record as JSON: /data/d/3042.json