X-linked mandibulofacial dysostosis
Findings
No curated finding names X-linked mandibulofacial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.
Definition from the Mondo Disease Ontology (MONDO:0010539), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Branchial anomalyHPOHP:0009794
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
Show the remaining 12
- Triangular faceHPOHP:0000325
- Very frequent (80% to 99% of cases)
- Webbed neckHPOHP:0000465
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Abnormal mitral valve morphologyHPOHP:0001633
- Occasional (5% to 29% of cases)
Where it sits
Other names
4 names
Resolves to: X-linked mandibulofacial dysostosis
- Also called
- mandibulofacial dysostosis, Toriello typemandibulofacial dysostosis, X-linkedX-linked branchial arch syndromeX-linked mandibulofacial dysostosis with limb anomalies