macrocephaly, dysmorphic facies, and psychomotor retardation
ORPHA: 457359
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 macrocephaly, dysmorphic facies, and psychomotor retardation, sourced from HPO and Orphanet clinical annotations.
MegalencephalyDisproportionate tall statureLarge for gestational ageSlender buildLong footAbnormal facial shapeGait ataxiaBilateral tonic-clonic seizureDroolingKyphoscoliosisMicropenisMalar flatteningFacial hypotoniaTriangular faceProminent nasal bridgeLong neckShallow orbitsCerebellar hypoplasiaCommunicating hydrocephalusLimitation of joint mobilityJoint hypermobilityAsymmetry of the thoraxPes planusNeonatal hypoglycemiaVentriculomegalyCerebral cortical atrophyKyphosisLumbar hyperlordosisSevere expressive language delayThick corpus callosumDiffuse white matter abnormalitiesHigh myopiaMetopic synostosisReduced social responsivenessLong faceHypertelorismArachnodactylyHypotoniaOvergrowthSevere intellectual disabilityProminent foreheadBroad eyebrowSparse eyebrowHigh palateMacrocephalyMandibular prognathiaPosteriorly rotated earsMacrotiaDownslanted palpebral fissuresProptosisUpslanted palpebral fissureGlobal developmental delayGait disturbanceAbsent speech
Classification & Codes
Orphanet Code
ORPHA:457359macrocephaly, dysmorphic facies, and psychomotor retardation
| Orphanet | ORPHA:457359 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO