Hypomandibular faciocranial dysostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomandibular faciocranial dysostosis | |
| fr | Dysostose facio-crânienne hypomandibulaire | |
| de | Dysostose, faziokraniale hypomandibuläre | |
| es | Disostosis faciocranenana hipomandibular | |
| it | Disostosi faciocraniale ipomandibolare | |
| nl | Hypomandibulaire faciocraniale dysostose | |
| pt | Disostose facio-cranio-hipomandibular | |
| pl | Dyzostoza twarzowo-czaszkowa z niedorozwojem żuchwy | |
| cs | Hypomandibulární faciokraniální dysostóza | |
| uk | Піднижньощелепний черепнолицьовий дизостоз | |
| zh | 下颌面颅骨发育不良 | |
| tr | Hipomandibular fasiyokraniyal disostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241310 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| MONDO | 0009425 | E | validated | |
| MeSH | C537154 | E | validated | |
| UMLS | C1855848 | E | validated | |
| GARD | 2907 | 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:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:183542Genetic cranial malformation
rare genetic diseases - 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 | 3 cases | Worldwide | Case(s) | Validated | 8135280[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8135280[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005607 | Abnormal tracheobronchial morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0100543 | Cognitive impairment | |
| HP:0000369 | Low-set ears | |
| HP:0005439 | Maxillozygomatic hypoplasia | |
| HP:0011800 | Midface retrusion | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0000248 | Brachycephaly | |
| HP:0000452 | Choanal stenosis | |
| HP:0000175 | Cleft palate | |
| HP:0001363 | Craniosynostosis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008749 | Laryngeal hypoplasia | |
| HP:0000160 | Narrow mouth | |
| HP:0000588 | Optic disc coloboma | |
| HP:0001561 | Polyhydramnios | |
| HP:0000520 | Proptosis | |
| Occasional (29-5%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0001631 | Atrial septal defect | |
| HP:0001522 | Death in infancy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002777 | Tracheal stenosis | |
| HP:0000243 | Trigonocephaly | |
| HP:0000582 | Upslanted palpebral fissure | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1790
- This record as JSON: /data/d/1790.json