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WITKOS - Witteveen Kolk syndrome

disorder
SNOMED 1187122000CUI C4310804

Overview

WITKOS - Witteveen Kolk 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.

Diaphragmatic hernia
Always present (100%)HP:0000776
hyperkinetic disorder
Always present (100%)HP:0000752
Incoordination
Always present (100%)HP:0002311
Increased distance between eyes
Always present (100%)HP:0000316
Increased length of philtrum
Always present (100%)HP:0000343
Increased width of bridge of nose
Always present (100%)HP:0000431
Mental retardation, severe
Always present (100%)HP:0010864
Obesity
Always present (100%)HP:0001513
physical aggression
Always present (100%)HP:0000718
Squint
Always present (100%)HP:0000486
Unilateral cryptorchidism
Always present (100%)HP:0012741
Vertical enlargement of face
Always present (100%)HP:0000276
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Autism
Frequent (30-79%)HP:0000717
Curvature of little finger
Frequent (30-79%)HP:0004209
Decreased body height
Frequent (30-79%)HP:0004322
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed motor milestones
Frequent (30-79%)HP:0001270
Feeding difficulties
Frequent (30-79%)HP:0011968
Fine hair
Frequent (30-79%)HP:0002213
Hearing impairment
Frequent (30-79%)HP:0000365
Increased width of the forehead
Frequent (30-79%)HP:0000337
Joint ligamentous laxity
Frequent (30-79%)HP:0001382
Muscular hypotonia
Frequent (30-79%)HP:0001252
Palpebronasal fold
Frequent (30-79%)HP:0000286
Poor school performance
Frequent (30-79%)HP:0001249
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Small pointed chin
Frequent (30-79%)HP:0000307
Speech and language difficulties
Frequent (30-79%)HP:0000750

Related Conditions

Autosomal dominant hereditary disorder(parent)
Developmental hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1187122000
UMLS CUI
C4310804
Fully Specified Name
Witteveen Kolk 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.