microcephalic primordial dwarfism, Alazami type
ORPHA: 319671
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 microcephalic primordial dwarfism, Alazami type, sourced from HPO and Orphanet clinical annotations.
Wide mouthWide noseDeeply set eyeWidely spaced teethPostnatal growth retardationSevere intellectual disabilityMalar flatteningShort philtrumTriangular faceLow-set earsMotor stereotypyAnxietyCutis marmorataThickened skinThick vermilion borderShort palpebral fissureMild microcephalyNarrow palpebral fissureSparse eyebrowAbnormal eating behaviorAbnormality of the orbital regionStrabismusSelf-mutilationSeizureAtrial septal defectSleep disturbanceScoliosisSlender long boneSleep apneaProminent foreheadStereotypical hand wringing
Classification & Codes
Orphanet Code
ORPHA:319671microcephalic primordial dwarfism, Alazami type
| Orphanet | ORPHA:319671 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO