Uruguay Faciocardiomusculoskeletal syndrome
MONDO:0010292Mondo
Findings
No curated finding names Uruguay Faciocardiomusculoskeletal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
34 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.
- CamptodactylyHPOHP:0012385
- 3 of 3 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 3 of 3 reported patients
- Hallux valgusHPOHP:0001822
- 3 of 3 reported patients
- Pugilistic faciesHPOHP:0000339
- 3 of 3 reported patients
- Skeletal muscle hypertrophyHPOHP:0003712
- 3 of 3 reported patients
- Weak voiceHPOHP:0001621
- 3 of 3 reported patients
- Congenital hip dislocationHPOHP:0001374
- 2 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 3 reported patients
- Hyperplasia of the maxillaHPOHP:0430028
- 2 of 3 reported patients
- Left ventricular hypertrophyHPOHP:0001712
- 2 of 3 reported patients
- Mitral regurgitationHPOHP:0001653
- 2 of 3 reported patients
- Pes cavusHPOHP:0001761
- 2 of 3 reported patients
Show the remaining 22
- Prominent supraorbital ridgesHPOHP:0000336
- 2 of 3 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 3 reported patients
- SynophrysHPOHP:0000664
- 2 of 3 reported patients
- Thick eyebrowHPOHP:0000574
- 2 of 3 reported patients
- Wide noseHPOHP:0000445
- 2 of 3 reported patients
- BrachyturricephalyHPOHP:0000244
- 1 of 3 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: Uruguay Faciocardiomusculoskeletal syndrome
- Also called
- uruguay faciocardiomusculoskeletal syndrome, X-linked recessive