Craniosynostosis, Herrmann-Opitz type
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- historical
Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis, Herrmann-Opitz type | |
| fr | Craniosynostose de Herrmann-Opitz | |
| de | Kraniosynostose Typ Herrmann-Opitz | Herrmann-Opitz Kraniosynostose |
| es | Craneosinostosis tipo Herrmann-Opitz | Craneosinostosis de Herrmann-Opitz |
| it | Craniosinostosi di Herrmann-Opitz | |
| nl | Craniosynostose, Herrmann-Opitz-type | |
| pt | Craniossinostose, tipo Herrmann-Opitz | Craniossinostose de Herrmann-Opitz |
| pl | Kraniosynostoza typu Herrmanna i Opitza | |
| cs | Kraniosynostóza, Herrmannův-Opitzův typ | Kraniosynostóza, Herrmann-Opitzův typ |
| uk | Краніосиностоз, тип Германна-Опітца | |
| zh | 颅缝早闭，Herrmann-Opitz型 | |
| tr | Kraniyosinostoz, Herrmann-Opitz tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0016291 | E | validated | |
| UMLS | C4706536 | 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 (1):
- ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 3300335[PMID]_5783388[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3300335[PMID]_5783388[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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0100543 | Cognitive impairment | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0004322 | Short stature | |
| HP:0001171 | Split hand | |
| HP:0000262 | Turricephaly | |
| Frequent (79-30%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0000795 | Abnormality of the urethra | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0000444 | Convex nasal ridge | |
| HP:0001363 | Craniosynostosis | |
| HP:0000272 | Malar flattening | |
| HP:0008551 | Microtia | |
| HP:0001562 | Oligohydramnios | |
| HP:0003196 | Short nose | |
| HP:0000465 | Webbed neck | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2145
- This record as JSON: /data/d/2145.json