Mandibulofacial dysostosis with alopecia
Synonyms: MFDA
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mandibulofacial dysostosis with alopecia | MFDA |
| fr | Dysostose mandibulo-faciale avec alopécie | = en |
| de | Mandibulofaziale Dysostose mit Alopezie | Bilaterale und symmetrische oto-mandibuläre Dysplasie mit Alopezie · MFDA |
| es | Disostosis mandibulofacial con alopecia | Displasia oto-mandibular bilateral y simétrica con alopecia · MFDA |
| it | Disostosi mandibolo-facciale con alopecia | Displasia otomandibolare bilaterale e simmetrica con alopecia · MFDA |
| nl | Mandibulofaciale dysostose met alopecie | Bilaterale en symmetrische oto-mandibulaire dysplasie met alopecie · MFDA |
| pt | Disostose mandibulofacial com alopecia | = en |
| pl | Dyzostoza żuchwowo-twarzowa z łysieniem | MFDA · Obustronna i symetryczna dysplazja uszno-żuchwowa z łysieniem |
| cs | Mandibulofaciální dysostóza s alopecií | = en |
| uk | Мандибулофаціальний дизостоз з алопецією | = en |
| zh | 下颌面骨发育不全伴脱发 | = en |
| tr | Alopesi ile seyreden mandibulofasiyal dizostoz | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616367 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| MONDO | 0014608 | E | validated | |
| UMLS | C4225349 | 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:79364Alopecia
rare skin diseases - ORPHA:481771Genetic alopecia
rare genetic diseases - ORPHA:155899Mandibulofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EDNRA | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3179 | ENSG00000151617 | 131243 | 4q31.22-q31.23 | endothelin receptor type A | 25772936[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 25772936[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25772936[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/443995
- This record as JSON: /data/d/443995.json