McDonough syndrome
Findings
No curated finding names McDonough syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.
Definition from the Mondo Disease Ontology (MONDO:0009570), read 2026-09-29. CC BY 4.0.
Features
27 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- MacrotiaHPOHP:0000400
- Very frequent (80% to 99% of cases)
- Open biteHPOHP:0010807
- Very frequent (80% to 99% of cases)
Show the remaining 15
- SynophrysHPOHP:0000664
- Very frequent (80% to 99% of cases)
- Abnormal palate morphologyHPOHP:0000174
- Frequent (30% to 79% of cases)
- Bilateral single transverse palmar creasesHPOHP:0007598
- Frequent (30% to 79% of cases)
- CachexiaHPOHP:0004326
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Dental malocclusionHPOHP:0000689
- Frequent (30% to 79% of cases)