Bohring Opitz syndrome

disorder

SNOMED 720565000CUI C0796232

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Feeding difficulties

Always present (100%)HP:0011968

Poor weight gain

Always present (100%)HP:0001508

Facial hemangiomata

Very frequent (80-99%)HP:0000329

Flexion contractures

Very frequent (80-99%)HP:0001371

Near sighted

Very frequent (80-99%)HP:0000545

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Wide alveolar margins

Very frequent (80-99%)HP:0000187

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Anterior bulging of the globe of eye

Frequent (30-79%)HP:0000520

Apnea

Frequent (30-79%)HP:0002104

Bradycardia

Frequent (30-79%)HP:0001662

Chubby cheeks

Frequent (30-79%)HP:0000293

Congenital joint contractures

Frequent (30-79%)HP:0002803

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Deep palmar creases

Frequent (30-79%)HP:0006191

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Fixed elbow flexion

Frequent (30-79%)HP:0006471

Food intolerance

Frequent (30-79%)HP:0012537

Happy demeanour

Frequent (30-79%)HP:0040082

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Inability to walk

Frequent (30-79%)HP:0002540

Increased hair growth on body

Frequent (30-79%)HP:0000998

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Limitation of joint mobility

Frequent (30-79%)HP:0001376

Low anterior hairline

Frequent (30-79%)HP:0000294

Low facial muscle tone

Frequent (30-79%)HP:0000297

Low-set ears

Frequent (30-79%)HP:0000369

Related Conditions

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

Developmental delay(parent)

Quick Facts

SNOMED CT: 720565000
UMLS CUI: C0796232
Fully Specified Name: Bohring Opitz 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.