bird headed-dwarfism, Montreal type
MeSH: C535448ORPHA: 2617
Overview
human disease
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 bird headed-dwarfism, Montreal type, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsHypertoniaHyperreflexiaLow posterior hairlinePremature graying of hairAlopecia of scalpEEG abnormalityScoliosisKyphosisVertebral segmentation defectSevere short statureReduced bone mineral densityCongenital pyloric atresiaWide intermamillary distanceAbnormal dermatoglyphicsPrematurely aged appearanceShagreen patchOpen biteAbnormal hair quantityLipoatrophyCryptorchidismAbnormal palate morphologyMicrocephalyMicrognathiaConvex nasal ridgePtosisCarious teethDry skinHyperhidrosisIntellectual disability
Classification & Codes
MeSH Code
C535448Orphanet Code
ORPHA:2617bird headed-dwarfism, Montreal type
| MeSH | C535448 |
| Orphanet | ORPHA:2617 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO