intellectual disability-balding-patella luxation-acromicria syndrome
Findings
No curated finding names intellectual disability-balding-patella luxation-acromicria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Intellectual disability-balding-patella luxation-acromicria syndrome is characterized by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
Definition from the Mondo Disease Ontology (MONDO:0010505), read 2026-09-29. CC BY 4.0.
Features
54 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- AcromesomeliaHPOHP:0003086
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Deeply set eyeHPOHP:0000490
- Very frequent (80% to 99% of cases)
- Early baldingHPOHP:0002234
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- Frontal balding
Show the remaining 42
- Bulbous noseHPOHP:0000414
- Frequent (30% to 79% of cases)
- Decreased muscle massHPOHP:0003199
- Frequent (30% to 79% of cases)
- Decreased testicular sizeHPOHP:0008734
- Frequent (30% to 79% of cases)
- External genital hypoplasiaHPOHP:0003241
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- HypogonadismHPOHP:0000135
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: intellectual disability-balding-patella luxation-acromicria syndrome
- Also called
- Scholte syndromeScholte-Begeer-van Essen syndromeSHLTS