Overview
Alkuraya Kucinskas 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.
Dandy-Walker cyst
Always present (100%)HP:0001305
Decreased projection of mandible
Always present (100%)HP:0000347
Fluid around lungs
Always present (100%)HP:0002202
Foot, talipes equinovarus
Always present (100%)HP:0001762
Nonsyndromal hydrocephalus
Always present (100%)HP:0000238
Pericardial effusions
Very rare (1-4%)HP:0001698
Seizures
Very rare (1-4%)HP:0001250
Abnormality of the feet
HP:0001760
Arthrogryposis multiplex
HP:0002804
Behavioral changes
HP:0000708
Big calvaria
HP:0000256
Camptodactyly
HP:0012385
Cataract
HP:0000518
Cerebellar dysplasia
HP:0007033
Clinodactyly
HP:0030084
Cognitive delay
HP:0001263
Concave bridge of nose
HP:0005280
Cutaneous syndactyly of digits
HP:0012725
Cystic hygroma of the neck
HP:0000476
Defective or absent horizontal voluntary eye movements
HP:0000657
Dilated cerebral ventricle
HP:0002119
Eye movement issue
HP:0000496
Fewer or absent grooves in brain
HP:0001339
Flat head
HP:0001357
Generalised decreased muscle tone
HP:0001290
Gray matter heterotopias
HP:0002282
High arched palate
HP:0000218
Hyperopia
HP:0000540
Hypoplasia of the brainstem
HP:0002365
Hypoplastic or absent corpus callosum
HP:0007370
Related Conditions
Arthrogryposis multiplex congenita(parent)
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Inherited arthrogryposis(parent)
Hereditary disorder of nervous system(parent)
Congenital anomaly of brain(parent)
Neurodevelopmental disorder(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital deformity of musculoskeletal system(parent)
Congenital anomaly of joint(parent)
Quick Facts
- SNOMED CT
- 1351836007
- UMLS CUI
- C4693347
- Fully Specified Name
- Alkuraya Kucinskas syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.