cleft lip/palate-deafness-sacral lipoma syndrome
Findings
No curated finding names cleft lip/palate-deafness-sacral lipoma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.
Definition from the Mondo Disease Ontology (MONDO:0016059), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Absent nasal septal cartilageHPOHP:0005273
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Hip dislocationHPOHP:0002827
- Very frequent (80% to 99% of cases)
- Lower limb asymmetryHPOHP:0100559
- Very frequent (80% to 99% of cases)
- Meningocele
Where it sits
- A kind of
Other names
1 name
Resolves to: cleft lip/palate-deafness-sacral lipoma syndrome
- Also called
- Lowry-Yong syndrome