Hallermann-Streiff syndrome
Findings
No curated finding names Hallermann-Streiff syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
Definition from the Mondo Disease Ontology (MONDO:0009318), read 2026-09-29. CC BY 4.0.
Features
51 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.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Convex nasal ridgeHPOHP:0000444
- Very frequent (80% to 99% of cases)
- Dermal atrophyHPOHP:0004334
- Very frequent (80% to 99% of cases)
- Developmental cataractHPOHP:0000519
- Very frequent (80% to 99% of cases)
- Frontal bossing
Show the remaining 39
- Sparse body hairHPOHP:0002231
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Abnormal cranial suture/fontanelle morphologyHPOHP:0000235
- Frequent (30% to 79% of cases)
- Abnormality of hair textureHPOHP:0010719
- Frequent (30% to 79% of cases)
- Abnormality of the tongueHPOHP:0000157
- Frequent (30% to 79% of cases)
- GlossoptosisHPOHP:0000162
- Frequent (30% to 79% of cases)
Where it sits
Other names
6 names
Resolves to: Hallermann-Streiff syndrome
- Also called
- FranC'ois dyscephalic syndromeFrancois dyscephalic syndromeFrançois dyscephalic syndromeHallermann syndromeHallermann's syndromeoculomandibulofacial syndrome