Delayed membranous cranial ossification
Synonyms: Gonzales-del Angel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Delayed membranous cranial ossification is a rare, genetic primary bone dysplasia characterized by absent ossification of calvarial bones at birth and characteristic facial dysmorphisms (frontal bossing, hypertelorism, downward-slanting palpebral fissures, proptosis, flat nasal bridge, low-set ears, midface retrusion). Patients present a soft skull at birth which, over time, progressively ossifies and in adulthood typically results in a deformed skull (with brachycephaly and prominent occiput). No other skeletal abnormalities are associated and patients have normal cognitive and motor development.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Delayed membranous cranial ossification | Gonzales-del Angel syndrome |
| fr | Retard d'ossification du crâne membraneux | Syndrome de Gonzales-del Angel |
| de | Ossifikationsverzögerung des Schädels, membranöse | Gonzales-del-Angel-Syndrom |
| es | Retraso de la osificación craneal membranosa | Síndrome de Gonzales-del Ángel |
| it | Ritardo di ossificazione del cranio membranoso | Sindrome di Gonzales-del Angel |
| nl | Vertraagde membraneuze craniale ossificatie | Syndroom van Gonzales-del Angel |
| pt | Atraso na ossificação craniana membranosa | Síndrome Gonzales-del Angel |
| pl | Opóźnienie kostnienia czaszki | Zespół Gonzales del Angela |
| cs | Opožděná membranózní osifikace lebky | Gonzalez-del Angelové syndrom |
| uk | Затримка мембранозного окостеніння черепа | Синдром Гонсалеса-дель-Анхеля |
| zh | 颅骨膜性成骨延迟 | Gonzales-del Angel综合征 |
| tr | Gecikmiş membranöz kraniyal kemikleşme | Gonzales-del Angel sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155980 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LB70.Y | NTBT | index | validated |
| MONDO | 0007971 | E | validated | |
| MeSH | C563592 | E | validated | |
| UMLS | C1835030 | E | validated | |
| GARD | 1727 | 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:93451Cleidocranial dysplasia and isolated cranial ossification defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183542Genetic cranial malformation
rare genetic 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 families | Worldwide | Family(ies) | Validated | 10861662[PMID]_1481847[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10861662[PMID]_1481847[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004331 | Decreased skull ossification | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0011800 | Midface retrusion | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0000269 | Prominent occiput | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3034
- This record as JSON: /data/d/3034.json