extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
Findings
No curated finding names extrasystoles-short stature-hyperpigmentation-microcephaly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Definition from the Mondo Disease Ontology (MONDO:0007588), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Bacterial endocarditisHPOHP:0006689
- Very frequent (80% to 99% of cases)
- Heart blockHPOHP:0012722
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- Premature ventricular contractionHPOHP:0006682
- Very frequent (80% to 99% of cases)
Show the remaining 1
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- Also called
- Char-Douglas-Dungan syndrome