short stature-wormian bones-dextrocardia syndrome
Findings
No curated finding names short stature-wormian bones-dextrocardia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Short stature-wormian bones-dextrocardia syndrome is a multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymetry, mild developmental delay, hemimegalencephaly and facial dysmorphism, such as hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia.
Definition from the Mondo Disease Ontology (MONDO:0008499), 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.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormality of the philtrumHPOHP:0000288
- Very frequent (80% to 99% of cases)
- Anal atresiaHPOHP:0002023
- Very frequent (80% to 99% of cases)
- Anterior hypopituitarismHPOHP:0000830
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Broad alveolar ridgesHPOHP:0000187
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Midshaft hypospadiasHPOHP:0012854
- Very frequent (80% to 99% of cases)
Where it sits
Other names
1 name
Resolves to: short stature-wormian bones-dextrocardia syndrome
- Also called
- Stratton-Parker syndrome