facial dysmorphism-shawl scrotum-joint laxity syndrome
Findings
No curated finding names facial dysmorphism-shawl scrotum-joint laxity syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0015781), read 2026-09-29. CC BY 4.0.
Features
24 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.
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Genu valgumHPOHP:0002857
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Very frequent (80% to 99% of cases)
Show the remaining 12
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of coagulationHPOHP:0001928
- Frequent (30% to 79% of cases)
- Abnormality of the voiceHPOHP:0001608
- Frequent (30% to 79% of cases)
- Cubitus valgusHPOHP:0002967
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: facial dysmorphism-shawl scrotum-joint laxity syndrome
- Also called
- Seaver-Cassidy syndrome