frontonasal dysplasia with alopecia and genital anomaly
ORPHA: 228390
Overview
Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism
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 frontonasal dysplasia with alopecia and genital anomaly, sourced from HPO and Orphanet clinical annotations.
CryptorchidismSmall scrotumHypogonadismAbnormality of the dentitionBrachycephalyBroad philtrumHypertelorismLow-set earsUnderdeveloped nasal alaeAnteverted naresStrabismusTelecanthusMicrophthalmiaUpslanted palpebral fissureNystagmusConical toothMild intellectual disabilityAgenesis of corpus callosumCalvarial skull defectIntrauterine growth retardationOligohydramniosAlopeciaFrontal bossingEncephaloceleFine hairAgenesis of cerebellar vermisModerate intellectual disabilityCoronal craniosynostosisDepressed nasal bridgeBifid nose
Classification & Codes
Orphanet Code
ORPHA:228390frontonasal dysplasia with alopecia and genital anomaly
| Orphanet | ORPHA:228390 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO