congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
ORPHA: 464738
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 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.
Lateral ventricle dilatationDilated third ventricleHigh hypermetropiaDeviation of the 2nd fingerContracture of the proximal interphalangeal joint of the 3rd fingerBroad distal phalanx of the toesOverlapping fingersLeft superior vena cava draining to coronary sinusClinodactylyMale urethral meatus stenosisInability to walkNevus flammeus of the foreheadSevere global developmental delayHypospadiasEverted lower lip vermilionMicrocephalyEpicanthusMandibular prognathiaHypertelorismShort philtrumHigh foreheadMicrocorneaDownslanted palpebral fissuresPtosisDevelopmental cataractSeizureHypotoniaAbsent speechSparse scalp hairExaggerated cupid's bowPoor speechProminent nasal tipTented upper lip vermilionSparse eyebrowInguinal herniaHydronephrosisCleft palateFurrowed tongueRetrognathiaLow-set earsAnteverted naresStrabismusMicrophthalmiaAmblyopiaAggressive behaviorPectus carinatumSingle transverse palmar creaseCholelithiasisAdducted thumbSpasticityAgenesis of corpus callosumGait disturbanceReduced tendon reflexesVentricular septal defectAtrial septal defectPes cavusOverlapping toeConstipationCerebral atrophyHypoplasia of the corpus callosumPulmonary arterial hypertensionModerate intellectual disabilityCavum septum pellucidumScoliosisHigh, narrow palateKyphosis2-3 toe syndactylyFinger syndactylyRecurrent pneumonia
Classification & Codes
Orphanet Code
ORPHA:464738congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
| Orphanet | ORPHA:464738 |
| Treatments | 0 drug(s) |
| Symptoms on record | 69 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO