ORPHA:139393
Syndromic craniosynostosis
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic craniosynostosis | |
| fr | Craniosynostose syndromique | |
| de | Kraniosynostose, syndromale | |
| es | Craneosionostosis sindrómica | |
| it | Craniosinostosi sindromica | |
| nl | Syndromale craniosynostose | |
| pt | Craniossinostose sindromática | |
| pl | Kraniosynostoza syndromiczna | |
| cs | Syndromová kraniosynostóza | |
| uk | Синдромальний краніосиностоз | |
| zh | 综合征性颅缝早闭 | |
| tr | Sendromik kraniyosinostoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015338 | E | validated | |
| MONDO | 15338 | E | validated | |
| UMLS | C5680624 | E | validated | |
| GARD | 19911 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1531Craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (62):
- ORPHA:2938433MC syndrome
- ORPHA:36Acrocallosal syndrome
- ORPHA:221054Acrocephalopolydactyly
- ORPHA:83Antley-Bixler syndrome
- ORPHA:87Apert syndrome
- ORPHA:1225Baller-Gerold syndrome
- ORPHA:97297Bohring-Opitz syndrome
- ORPHA:1308C syndrome
- ORPHA:2872Cardiocranial syndrome, Pfeiffer type
- ORPHA:65759Carpenter syndrome
- ORPHA:247667Childhood-onset hypophosphatasia
- ORPHA:100978Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
- ORPHA:93267Cloverleaf skull-multiple congenital anomalies syndrome
- ORPHA:1465Coffin-Siris syndrome
- ORPHA:1515Cranioectodermal dysplasia
- ORPHA:1520Craniofrontonasal dysplasia
- ORPHA:1524Craniomicromelic syndrome
- ORPHA:1541Craniosynostosis, Boston type
- ORPHA:2145Craniosynostosis, Herrmann-Opitz type
- ORPHA:1527Craniosynostosis, Philadelphia type
- ORPHA:85199Craniosynostosis-anal anomalies-porokeratosis syndrome
- ORPHA:284149Craniosynostosis-dental anomalies
- ORPHA:647681Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
- ORPHA:672979Craniosynostosis-facial dysmorphism-brachydactyly syndrome
- ORPHA:171839Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- ORPHA:52054Craniosynostosis-intracranial calcifications syndrome
- ORPHA:565858Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- ORPHA:672985Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
- ORPHA:1528Craniotelencephalic dysplasia
- ORPHA:207Crouzon syndrome
- ORPHA:93262Crouzon syndrome-acanthosis nigricans syndrome
- ORPHA:1553Curry-Jones syndrome
- ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
- ORPHA:235Dubowitz syndrome
- ORPHA:313855FGFR2-related bent bone dysplasia
- ORPHA:169163Familial scaphocephaly syndrome
- ORPHA:1906Fetal valproate spectrum disorder
- ORPHA:2163Holoprosencephaly-craniosynostosis syndrome
- ORPHA:247651Infantile hypophosphatasia
- ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- ORPHA:1540Jackson-Weiss syndrome
- ORPHA:2332KBG syndrome
- ORPHA:96169Koolen-De Vries syndrome
- ORPHA:293925Lethal occipital encephalocele-skeletal dysplasia syndrome
- ORPHA:2409Lowry-MacLean syndrome
- ORPHA:79213Mucopolysaccharidosis
- ORPHA:53271Muenke syndrome
- ORPHA:648Noonan syndrome
- ORPHA:2645Osteoglosphonic dysplasia
- ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndrome
- ORPHA:710Pfeiffer syndrome
- ORPHA:247638Prenatal benign hypophosphatasia
- ORPHA:763Pycnodysostosis
- ORPHA:3270Radioulnar synostosis-developmental delay-hypotonia syndrome
- ORPHA:3134SCARF syndrome
- ORPHA:794Saethre-Chotzen syndrome
- ORPHA:2462Shprintzen-Goldberg syndrome
- ORPHA:2655Thanatophoric dysplasia
- ORPHA:3365Trigonocephaly-broad thumbs syndrome
- ORPHA:3369Trigonocephaly-short stature-developmental delay syndrome
- ORPHA:904Williams syndrome
- ORPHA:2898X-linked intellectual disability-plagiocephaly syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:946OBSOLETE: Acrocephalosyndactyly referred to · inactive
- ORPHA:1530OBSOLETE: Craniosynostosis-cataract syndrome referred to · inactive
- ORPHA:1533OBSOLETE: Craniosynostosis-fibular aplasia syndrome referred to · inactive
- ORPHA:1534OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type referred to · inactive
- ORPHA:93452OBSOLETE: Craniosynostosis syndrome or cranial ossification disease referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139393
- This record as JSON: /data/d/139393.json