McDonough syndrome
MeSH: C538158ORPHA: 2471
Overview
, cryptorchidism, and a congenital heart defect. Two families have been reported. Autosomal recessive inheritance was suggested.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with McDonough syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsProminent supraorbital ridgesMacrotiaProtruding earProminent noseStrabismusSynophrysIntellectual disabilityScoliosisKyphosisShort statureAplasia/Hypoplasia of the abdominal wall musculatureOpen biteAbnormal cardiovascular system morphologyCryptorchidismAbnormal palate morphologyMandibular prognathiaHypertelorismShort philtrumMicrognathiaUnderdeveloped nasal alaePtosisDental malocclusionPectus excavatumCachexiaBilateral single transverse palmar creasesShort palpebral fissure
Classification & Codes
MeSH Code
C538158Orphanet Code
ORPHA:2471McDonough syndrome
| MeSH | C538158 |
| Orphanet | ORPHA:2471 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO