deafness-epiphyseal dysplasia-short stature syndrome
MONDO:0011047Mondo
Findings
No curated finding names deafness-epiphyseal dysplasia-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
Definition from the Mondo Disease Ontology (MONDO:0011047), read 2026-09-29. CC BY 4.0.
Features
19 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 femoral epiphysis morphologyHPOHP:0006499
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HyperlordosisHPOHP:0003307
- Frequent (30% to 79% of cases)
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Frequent (30% to 79% of cases)
- Nasolacrimal duct obstructionHPOHP:0000579
- Frequent (30% to 79% of cases)
- Pointed chinHPOHP:0000307
- Frequent (30% to 79% of cases)
- Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
Show the remaining 7
- Short thoraxHPOHP:0010306
- Frequent (30% to 79% of cases)
- Triangular faceHPOHP:0000325
- Frequent (30% to 79% of cases)
- Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
- Abnormal speech patternHPOHP:0002167
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Frontal bossingHPOHP:0002007
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: deafness-epiphyseal dysplasia-short stature syndrome
- Also called
- chitty-Hall-Baraitser syndrome