WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
ORPHA: 466943
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 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorIntellectual disabilityGlobal developmental delayAbnormal facial shapeFloppy infantSquare faceAbnormality of the outer earStrabismusAbnormality of visionAnxietyDelayed speech and language developmentSeizureAbsent speechConstipationDelayed gross motor developmentSleep disturbanceGastrointestinal dysmotilityAttention deficit hyperactivity disorderDelayed fine motor developmentFeeding difficultiesOral motor hypotoniaWide mouthThin upper lip vermilionEpicanthusHypertelorismPosteriorly rotated earsProminent antihelixBulbous noseWide nasal bridgeBroad nasal tipAstigmatismDeeply set eyeMyopiaLong palpebral fissureSynophrysAggressive behaviorAutistic behaviorBrachydactylyDysarthriaObesityDysphagiaGastroesophageal refluxAsthmaVentriculomegalyModerate intellectual disabilityIncoordinationDownturned corners of mouthRecurrent infectionsInverted nipplesDepressed nasal bridgeBorderline intellectual disabilityProminent foreheadBroad chinWidened subarachnoid spaceNasal flaringNasogastric tube feedingCerebral visual impairmentSelf-injurious behaviorPelvic kidneyConductive hearing impairmentSensorineural hearing impairmentSingle transverse palmar creasePes planusBilateral tonic-clonic seizureGeneralized non-motor (absence) seizureFebrile seizure (within the age range of 3 months to 6 years)Short palmPes valgusDilatation of renal calicesArachnoid cyst
Classification & Codes
Orphanet Code
ORPHA:466943WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
| Orphanet | ORPHA:466943 |
| Treatments | 0 drug(s) |
| Symptoms on record | 70 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO