Hydrocephalus with cleft palate and joint contracture syndrome

disorder

SNOMED 718576001CUI C0220686

Overview

Hydrocephalus with cleft palate and joint contracture 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.

Abnormality of the hips

Very frequent (80-99%)HP:0003272

Cleft of palate

Very frequent (80-99%)HP:0000175

Dandy-Walker cyst

Very frequent (80-99%)HP:0001305

Decrease in jaw mobility

Very frequent (80-99%)HP:0000211

Dysplastic ears

Very frequent (80-99%)HP:0000377

Multiple joint contractures

Very frequent (80-99%)HP:0002828

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Scoliosis

Very frequent (80-99%)HP:0002650

Stiff joint

Very frequent (80-99%)HP:0001387

Absent/underdeveloped radius

Frequent (30-79%)HP:0006501

Fetal foot inversion

Frequent (30-79%)HP:0001762

Oncology

Occasional (5-29%)HP:0002664

Slender fingers

Occasional (5-29%)HP:0001238

Squint

Occasional (5-29%)HP:0000486

Congenital neuroblastoma

HP:0006742

Eyelid ptosis

HP:0000508

Flexion contractures

HP:0001371

Nonsyndromal hydrocephalus

HP:0000238

Slack jawed appearance

HP:0000194

VSD

HP:0001629

Related Conditions

Autosomal dominant hereditary disorder(parent)

Dandy-Walker syndrome(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Cleft palate(parent)

Hereditary disorder of nervous system(parent)

Inherited arthrogryposis(parent)

Congenital abnormality of skull and face bones(parent)

Extrapyramidal disease(parent)

Quick Facts

SNOMED CT: 718576001
UMLS CUI: C0220686
Fully Specified Name: Hydrocephalus with cleft palate and joint contracture syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 20

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.