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Craniocerebellocardiac dysplasia

disorder
SNOMED 718556007CUI C0796137

Overview

Craniocerebellocardiac dysplasia 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.

Increased width of the forehead
Always present (100%)HP:0000337
Abnormal cranial suture/fontanelle morphology
Very frequent (80-99%)HP:0000235
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Dandy-Walker cyst
Very frequent (80-99%)HP:0001305
Frontal protuberance
Very frequent (80-99%)HP:0002007
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Mental-retardation
Very frequent (80-99%)HP:0001249
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Abnormal mitral valve morphology
Frequent (30-79%)HP:0001633
Abnormal tricuspid valve morphology
Frequent (30-79%)HP:0001702
Aortic stenosis
Frequent (30-79%)HP:0001650
Atria septal defect
Frequent (30-79%)HP:0001631
Cerebellar hypoplasia/atrophy
Frequent (30-79%)HP:0007360
Cleft of palate
Frequent (30-79%)HP:0000175
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650
Concave bridge of nose
Frequent (30-79%)HP:0005280
Decreased body height
Frequent (30-79%)HP:0004322
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Hole in center of heart
Frequent (30-79%)HP:0006695
Hunched back
Frequent (30-79%)HP:0002808
Increased size of skull
Frequent (30-79%)HP:0000256
Left ventricular hypoplasia
Frequent (30-79%)HP:0004383
Low-set ears
Frequent (30-79%)HP:0000369
Narrow, high-arched roof of mouth
Frequent (30-79%)HP:0002705
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Nonsyndromal hydrocephalus
Frequent (30-79%)HP:0000238
Prominent posterior skull
Frequent (30-79%)HP:0000269

Related Conditions

Congenital heart disease(parent)
Congenital anomaly of brain(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital abnormality of skull and face bones(parent)

Quick Facts

SNOMED CT
718556007
UMLS CUI
C0796137
Fully Specified Name
Cranio-cerebello-cardiac dysplasia 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.