dysmorphism-short stature-deafness-disorder of sex development syndrome
Findings
No curated finding names dysmorphism-short stature-deafness-disorder of sex development syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0016433), read 2026-09-29. CC BY 4.0.
Features
30 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.
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- Hyperactive deep tendon reflexes
Show the remaining 18
- MicrotiaHPOHP:0008551
- Frequent (30% to 79% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
- Pulmonary arterial hypertensionHPOHP:0002092
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Frequent (30% to 79% of cases)
- Short noseHPOHP:0003196
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: dysmorphism-short stature-deafness-disorder of sex development syndrome
- Also called
- Dysmorphism-short stature-deafness-pseudohermaphroditism syndrome