Autosomal recessive myogenic arthrogryposis multiplex congenita

disorder

SNOMED 764812008CUI C4707155

Overview

Autosomal recessive myogenic arthrogryposis multiplex congenita 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.

Arthrogryposis multiplex

Very frequent (80-99%)HP:0002804

Bilateral clubfeet

Very frequent (80-99%)HP:0001776

Bilateral facial muscle weakness

Very frequent (80-99%)HP:0430025

Decreased fetal movement

Very frequent (80-99%)HP:0001558

Fatiguable weakness of proximal limb muscles

Very frequent (80-99%)HP:0030200

Generalized low muscle tone in neonate

Very frequent (80-99%)HP:0008935

Hyporeflexia

Very frequent (80-99%)HP:0001265

Inability to walk

Very frequent (80-99%)HP:0002540

No development of motor milestones

Very frequent (80-99%)HP:0001270

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cryptorchidism

Frequent (30-79%)HP:0000028

Birth weight less than 10th percentile

Occasional (5-29%)HP:0001518

Concave bridge of nose

Occasional (5-29%)HP:0005280

Dislocated knee since birth

Occasional (5-29%)HP:0005191

Flat back of skull

Occasional (5-29%)HP:0005469

Flexion deformity of finger

Occasional (5-29%)HP:0012785

Growth delay as children

Occasional (5-29%)HP:0008897

Increased length of philtrum

Occasional (5-29%)HP:0000343

Macrotia

Occasional (5-29%)HP:0000400

Mental-retardation

Occasional (5-29%)HP:0001249

Moderate hyperopia

Occasional (5-29%)HP:0031729

PEG-fed in infancy

Occasional (5-29%)HP:0011471

Positive Gower sign

Occasional (5-29%)HP:0003391

Squint

Occasional (5-29%)HP:0000486

Thumb clasp

Occasional (5-29%)HP:0001188

Thumb-in-palm pattern

Occasional (5-29%)HP:0001181

Vertical enlargement of face

Occasional (5-29%)HP:0000276

Related Conditions

Inherited arthrogryposis(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital hereditary muscular dystrophy(parent)

Arthrogryposis multiplex congenita(parent)

Chronic arthropathy(parent)

Quick Facts

SNOMED CT: 764812008
UMLS CUI: C4707155
Fully Specified Name: Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.