Qazi Markouizos syndrome
Findings
No curated finding names Qazi Markouizos syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Qazi-Markouizos syndrome is characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibers. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.
Definition from the Mondo Disease Ontology (MONDO:0010816), read 2026-09-29. CC BY 4.0.
Features
25 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.
- Chronic constipationHPOHP:0012450
- Very frequent (80% to 99% of cases)
- Delayed ossification of carpal bonesHPOHP:0001216
- Very frequent (80% to 99% of cases)
- Dysharmonic skeletal maturationHPOHP:0200000
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Broad philtrumHPOHP:0000289
- Occasional (5% to 29% of cases)
- DroolingHPOHP:0002307
- Occasional (5% to 29% of cases)
- High, narrow palateHPOHP:0002705
- Occasional (5% to 29% of cases)
- HypertelorismHPOHP:0000316
- Occasional (5% to 29% of cases)
- Hypoplasia of teethHPOHP:0000685
- Occasional (5% to 29% of cases)
- Open mouthHPOHP:0000194
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: Qazi Markouizos syndrome
- Also called
- Dysharmonic skeletal maturation - muscular fiber disproportionDysharmonic skeletal maturation-muscular fiber disproportion syndromeDysharmonic skeletal maturation-muscular fibre disproportion syndromeQazi-Markouizos syndrome