hydrocephaly-tall stature-joint laxity syndrome
Findings
No curated finding names hydrocephaly-tall stature-joint laxity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.
Definition from the Mondo Disease Ontology (MONDO:0009363), read 2026-09-29. CC BY 4.0.
Features
15 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.
- Adducted thumbHPOHP:0001181
- Very frequent (80% to 99% of cases)
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- Disproportionate tall statureHPOHP:0001519
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- Tall stature
Show the remaining 3
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Shoulder dislocationHPOHP:0003834
- Frequent (30% to 79% of cases)
- Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: hydrocephaly-tall stature-joint laxity syndrome
- Also called
- Daish-Hardman-Lamont syndrome