Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (brachycephaly resulting from craniosynostosis, frontal bossing, downslanting palpebral fissures, large and low-set ears, depressed nasal bridge, high-arched, wide palate, thin upper lip), impaired neurological development with intellectual disability, hypotonia, pyloric stenosis, pectus excavatum, bilateral cryptorchidism and short stature.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | |
| fr | Syndrome de déficience intellectuelle-hypotonie-brachycéphalie-sténose du pylore-cryptorchidie | |
| de | Intelligenzminderung-Hypotonie-Brachyzephalie-Pylorusstenose-Kryptorchismus-Syndrom | |
| es | Síndrome de discapacidad intelectual-hipotonía-braquicefalia-estenosis pilórica-criptorquidia | |
| it | Sindrome da disabilità intellettiva, ipotonia, brachicefalia, stenosi pilorica, criptorchidismo | |
| nl | Intellectuele achterstand - hypotonie - brachycefalie - pylorusstenose - cryptorchidie-syndroom | Intellectuele achterstand - hypotonie - brachycefalie - pylorushypertrofie - cryptorchidie-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual-hipotonia-braquicefalia-estenose pilórica-criptorquidia | |
| pl | Zespół niepełnosprawność intelektualna-hipotonia-brachycefalia-zwężenie odźwiernika-wnętrostwo | |
| cs | Syndrom zahrnující mentální retardaci, hypotonii, brachycefalii, pylorostenózu a kryptorchismus | |
| uk | Синдром інтелектуальної недостатності-гіпотонії-брахіцефалії-пілоростенозу-крипторхізму | |
| zh | 智力障碍-肌张力低下-短头畸形-幽门狭窄-隐睾综合征 | |
| tr | Zihinsel yetersizlik-hipotoni-brakisefali-pilorik stenoz-kriptorşidi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0017805 | E | validated | |
| UMLS | C4751073 | 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 (2):
- 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.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22611637[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
14 annotations · validated 2019-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0000248 | Brachycephaly | |
| HP:0001363 | Craniosynostosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008947 | Floppy infant | |
| HP:0002007 | Frontal bossing | |
| HP:0000218 | High palate | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0000767 | Pectus excavatum | |
| HP:0002021 | Pyloric stenosis | |
| HP:0004322 | Short stature | |
| HP:0000219 | Thin upper lip vermilion | |
Annotation source: 22611637[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314575
- This record as JSON: /data/d/314575.json