de Sanctis-Cacchione syndrome
MONDO:0010217Mondo
Findings
No curated finding names de Sanctis-Cacchione syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0010217), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
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.
- Babinski signHPOHP:0003487
- 2 of 2 reported patients
- Bilateral cryptorchidismHPOHP:0008689
- 1 of 1 reported patient
- Cutaneous photosensitivityHPOHP:0000992
- 2 of 2 reported patients
- Decreased CSF 5-hydroxyindolacetic acid concentrationHPOHP:0025455
- 2 of 2 reported patients
- Equinovarus deformityHPOHP:0008110
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypermelanotic maculeHPO
Show the remaining 18
- Olivopontocerebellar atrophyHPOHP:0002542
- 2 of 2 reported patients
- TelangiectasiaHPOHP:0001009
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 1 of 2 reported patients
- Axonal degenerationHPOHP:0040078
- 1 of 2 reported patients
- Basal ganglia calcificationHPOHP:0002135
- 1 of 2 reported patients
- Bilateral coxa valgaHPOHP:0010665
- 1 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: de Sanctis-Cacchione syndrome
- Also called
- De Sanctis Cacchione Syndrome