mandibulofacial dysostosis with alopecia
Findings
No curated finding names mandibulofacial dysostosis with alopecia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.
Definition from the Mondo Disease Ontology (MONDO:0014608), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AlopeciaHPOHP:0001596
- 4 of 4 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 4 of 4 reported patients
- Mandibulofacial dysostosisHPOHP:0005321
- 3 of 3 reported patients
- Cleft palateHPOHP:0000175
- 3 of 4 reported patients
- Cupped earHPOHP:0000378
- 3 of 4 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 3 of 4 reported patients
- MicrotiaHPOHP:0008551
Show the remaining 6
- GlossoptosisHPOHP:0000162
- 1 of 4 reported patients
- HydroureterHPOHP:0000072
- 1 of 4 reported patients
- Lower eyelid colobomaHPOHP:0000652
- 1 of 4 reported patients
- Preauricular pitHPOHP:0004467
- 1 of 4 reported patients
- Preauricular skin tagHPOHP:0000384
- 1 of 4 reported patients
- Protruding earHPOHP:0000411
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EDNRAHGNC:3179
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2015
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: mandibulofacial dysostosis with alopecia
- Also called
- MFDA