Dandy-Walker malformation with postaxial polydactyly syndrome

disorder

SNOMED 733094005CUI C1857351

Overview

Dandy-Walker malformation with postaxial polydactyly syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Aneurysmal disease

HP:0002617

Aortic stenosis

HP:0001650

Cerebellar vermis aplasia

HP:0002335

Chorioretinal atrophy

HP:0000533

Cranial nerve paralysis

HP:0006824

Dandy-Walker cyst

HP:0001305

Dilated fourth ventricle

HP:0002198

Flat nasal bridge

HP:0005280

Frontal protuberance

HP:0002007

Increased width of bridge of nose

HP:0000431

Instability or lack of coordination of central trunk muscles

HP:0002078

Involuntary, rapid, rhythmic eye movements

HP:0000639

Large head

HP:0000256

Low-set ears

HP:0000369

Narrow cranium shape

HP:0000268

Narrow eyelid opening

HP:0045025

Nonsyndromal hydrocephalus

HP:0000238

Partial absence of cerebellar vermis

HP:0002951

PDA

HP:0001643

Posterior embryotoxon

HP:0000627

Posterior fossa cyst at the fourth ventricle

HP:0000933

Retromicrognathia

HP:0000308

Thinning and bulging of occipital bone of skull

HP:0000931

Thinning and bulging of posterior skull bones over the transverse sinuses

HP:0000930

Related Conditions

Dandy-Walker syndrome(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Accessory digit(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 733094005
UMLS CUI: C1857351
Fully Specified Name: Dandy-Walker malformation with postaxial polydactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.