osteopenia-intellectual disability-sparse hair syndrome
Findings
No curated finding names osteopenia-intellectual disability-sparse hair syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.
Definition from the Mondo Disease Ontology (MONDO:0009814), read 2026-09-29. CC BY 4.0.
Features
23 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 gross motor developmentHPOHP:0002194
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Fine hairHPOHP:0002213
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPO
Show the remaining 11
- 2-3 toe syndactylyHPOHP:0004691
- Occasional (5% to 29% of cases)
- Blue scleraeHPOHP:0000592
- Occasional (5% to 29% of cases)
- Bulbous noseHPOHP:0000414
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
- High-frequency sensorineural hearing impairmentHPOHP:0001757
- Occasional (5% to 29% of cases)
- Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: osteopenia-intellectual disability-sparse hair syndrome
- Also called
- Kaler-Garrity-Stern syndrome