Pilarowski Bjornsson syndrome

disorder

SNOMED 1217382002CUI C4540131

Overview

Pilarowski Bjornsson 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.

Peripheral hypotonia

Always present (100%)HP:0001252

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Allergy

Frequent (30-79%)HP:0012393

Almond shaped eyes

Frequent (30-79%)HP:0007874

Autism

Frequent (30-79%)HP:0000717

Decreased projection of midface

Frequent (30-79%)HP:0011800

Dermal translucency

Frequent (30-79%)HP:0010648

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Dull intelligence

Frequent (30-79%)HP:0001249

Frontal protuberance

Frequent (30-79%)HP:0002007

Fullness around the eyes

Frequent (30-79%)HP:0000629

Increased vertical thickness of eyebrow

Frequent (30-79%)HP:0011229

Prominent finger pads

Frequent (30-79%)HP:0001212

Small pointed chin

Frequent (30-79%)HP:0000307

Thick eyebrow

Frequent (30-79%)HP:0000574

Verbal dyspraxia

Frequent (30-79%)HP:0011098

Abnormal fingertip morphology

Occasional (5-29%)HP:0001211

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Big calvaria

Occasional (5-29%)HP:0000256

Epilepsy

Occasional (5-29%)HP:0001250

Growth delay as children

Occasional (5-29%)HP:0008897

Immune deficiency

Occasional (5-29%)HP:0002721

Increased length of eyelashes

Occasional (5-29%)HP:0000527

Stimming

Occasional (5-29%)HP:0000733

Related Conditions

Autosomal dominant hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

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

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1217382002
UMLS CUI: C4540131
Fully Specified Name: Intellectual disability, autism, speech apraxia, craniofacial dysmorphism 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.