hypomandibular faciocranial dysostosis
Findings
No curated finding names hypomandibular faciocranial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009425), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
26 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 tracheobronchial morphologyHPOHP:0005607
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the tongueHPOHP:0010295
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Maxillozygomatic hypoplasiaHPOHP:0005439
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Laryngeal hypoplasiaHPOHP:0008749
- Frequent (30% to 79% of cases)
- Narrow mouthHPOHP:0000160
- Frequent (30% to 79% of cases)
- Optic disc colobomaHPOHP:0000588
- Frequent (30% to 79% of cases)