holoprosencephaly
MeSH: D016142ORPHA: 2162
Overview
congenital disorder of the nervous system
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 holoprosencephaly, sourced from HPO and Orphanet clinical annotations.
Median cleft palateMedian cleft upper lipHoloprosencephalyAbnormal facial shapeSolitary median maxillary central incisorAbnormal nervous system morphologyBilateral cleft lipMicrocephalyChoanal atresiaDepressed nasal ridgeAnosmiaAnophthalmiaMicrophthalmiaHypotelorismIris colobomaDiabetes mellitusSeizureHypotoniaSpasticityGlobal developmental delayMuscle weaknessDystoniaHypoglycemiaGastroesophageal refluxHyposmiaAplasia/Hypoplasia of the corpus callosumTooth agenesisCyclopiaCognitive impairmentCryptorchidismAbnormality of the urinary systemProteinuriaHydrocephalusMacrocephalyEpicanthusBroad philtrumHypertelorismMacrotiaDepressed nasal tipAnteverted naresShort neckRetinopathyDeeply set eyePtosisChorioretinal colobomaThick eyebrowBlepharophimosisUpslanted palpebral fissureOptic atrophySynophrysCongenital diaphragmatic herniaAnterior hypopituitarismPanhypopituitarismDiabetes insipidusAbnormal skull morphologyBrachydactylyHand polydactylyDandy-Walker malformationFailure to thrive in infancyOmphaloceleVentricular septal defectTetralogy of FallotAbnormal pulmonary valve morphologyAbnormal aortic morphologyAbnormality of the spleenTalipesDeep philtrumFrontal bossingConstipationChoreaEncephaloceleRespiratory insufficiencyAbnormality of neuronal migrationHighly arched eyebrowScoliosisHyponatremiaAbnormal form of the vertebral bodiesFlat occiputAplasia/Hypoplasia of the lungsAplasia/Hypoplasia of the cerebellumHypoplasia of penisFeeding difficulties in infancyAbnormal antihelix morphologyBranchial anomalyAplasia/Hypoplasia involving the noseSpinal dysraphismSpinal cord tumorHypoplasia of the zygomatic boneIntestinal atresiaArrhythmiaAbsent naresAbnormal pinna morphologyJoint hypermobility
Classification & Codes
MeSH Code
D016142Orphanet Code
ORPHA:2162holoprosencephaly
| MeSH | D016142 |
| Orphanet | ORPHA:2162 |
| Treatments | 0 drug(s) |
| Symptoms on record | 93 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO