Arthrogryposis multiplex congenita and whistling face syndrome

disorder

SNOMED 720514008CUI C1859711

Overview

Arthrogryposis multiplex congenita and whistling face 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 shoulder

Very frequent (80-99%)HP:0003043

Blepharophimosis

Very frequent (80-99%)HP:0000581

Central hypotonia

Very frequent (80-99%)HP:0001252

Chubby cheeks

Very frequent (80-99%)HP:0000293

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased volume of lip vermillion

Very frequent (80-99%)HP:0000233

Epilepsy

Very frequent (80-99%)HP:0001250

Hydramnios

Very frequent (80-99%)HP:0001561

Narrow mouth

Very frequent (80-99%)HP:0000160

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Stiff joint

Very frequent (80-99%)HP:0001387

Thumb-in-palm pattern

Very frequent (80-99%)HP:0001181

Whistling appearance

Very frequent (80-99%)HP:0000346

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Pierre-Robin sequence

Frequent (30-79%)HP:0000201

Small for gestational age infant

Frequent (30-79%)HP:0001511

Abnormal palate morphology

Occasional (5-29%)HP:0000174

Abnormality of the fingernails

Occasional (5-29%)HP:0001231

Downturned corners of mouth

Occasional (5-29%)HP:0002714

Hearing abnormality

Occasional (5-29%)HP:0000364

Indentation of chin

Occasional (5-29%)HP:0010751

Nasal anomaly

Occasional (5-29%)HP:0000366

Apnea

HP:0002104

Arthrogryposis multiplex

HP:0002804

Body temperature instability

HP:0005968

Bradycardia

HP:0001662

Brain and/or spinal cord issue

HP:0000707

Calcinosis

HP:0003761

Related Conditions

Inherited arthrogryposis(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Arthrogryposis multiplex congenita(parent)

Quick Facts

SNOMED CT: 720514008
UMLS CUI: C1859711
Fully Specified Name: Arthrogryposis multiplex congenita and whistling face 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.