mandibulofacial dysostosis-microcephaly syndrome
Findings
No curated finding names mandibulofacial dysostosis-microcephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0012516), read 2026-09-29. CC BY 4.0.
Features
30 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.
- Abnormal antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- Abnormal middle ear morphologyHPOHP:0008609
- Very frequent (80% to 99% of cases)
- Abnormality of the outer earHPOHP:0000356
- Very frequent (80% to 99% of cases)
- Absent tragusHPOHP:0011268
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
Show the remaining 18
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Preauricular skin tagHPOHP:0000384
- Very frequent (80% to 99% of cases)
- Secondary microcephalyHPOHP:0005484
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- TrigonocephalyHPOHP:0000243
- Very frequent (80% to 99% of cases)
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.
- EFTUD2HGNC:30858
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: mandibulofacial dysostosis-microcephaly syndrome
- Also called
- mandibulofacial dysostosis with microcephalymandibulofacial dysostosis, Guion-Almeida typeMFDM syndrome