short fifth metacarpals-insulin resistance syndrome
MONDO:0019017Mondo
Findings
No curated finding names short fifth metacarpals-insulin resistance syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome is characterized by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0019017), read 2026-09-29. CC BY 4.0.
Features
6 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.
- HyperinsulinemiaHPOHP:0000842
- Very frequent (80% to 99% of cases)
- Nasal congestionHPOHP:0001742
- Very frequent (80% to 99% of cases)
- Short 5th metacarpalHPOHP:0010047
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- SpherocytosisHPOHP:0004444
- Very frequent (80% to 99% of cases)
- SplenomegalyHPOHP:0001744
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of