visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

ORPHA: 73246

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 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome, sourced from HPO and Orphanet clinical annotations.

Multicystic kidney dysplasiaRetrognathiaBroad foreheadLong philtrumStrabismusDownslanted palpebral fissuresGlobal developmental delayToe syndactylyConstipationCerebral calcificationIntestinal pseudo-obstructionFetal megacystisCryptorchidismMicrocephalyLow-set earsProtruding earPtosisArachnodactylyHypotoniaIntrauterine growth retardationLaryngomalaciaShort palmFinger syndactylyLacrimal duct stenosisSparse eyebrow

Classification & Codes

Orphanet Code

ORPHA:73246
visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
OrphanetORPHA:73246
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO