short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Findings
No curated finding names short stature-deafness-neutrophil dysfunction-dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome is characterized by short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections).
Definition from the Mondo Disease Ontology (MONDO:0017316), read 2026-09-29. CC BY 4.0.
Features
8 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 immune system physiologyHPOHP:0010978
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- Ectopic anusHPOHP:0004397
- Frequent (30% to 79% of cases)
- GlaucomaHPOHP:0000501
- Frequent (30% to 79% of cases)
- MutismHPOHP:0002300
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- NeoplasmHPOHP:0002664
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
- Also called
- thong-Douglas-Ferrante syndrome