RHYNS syndrome
MONDO:0011202Mondo
Findings
No curated finding names RHYNS syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
RHYNS syndrome is characterized by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.
Definition from the Mondo Disease Ontology (MONDO:0011202), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
28 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.
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- ExotropiaHPOHP:0000577
- 1 of 1 reported patient
- NephronophthisisHPOHP:0000090
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- OsteoporosisHPOHP:0000939
- 1 of 1 reported patient
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Thickened calvariaHPOHP:0002684
- 1 of 1 reported patient
- Total ophthalmoplegiaHPOHP:0007824
- 1 of 1 reported patient
- Abnormality of the liverHPOHP:0001392
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- HypopituitarismHPOHP:0040075
- Very frequent (80% to 99% of cases)
- Abducens palsyHPOHP:0006897
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: RHYNS syndrome
- Also called
- retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome