Distal arthrogryposis type 3

disorder

SNOMED 897570002CUI C0220666

Overview

Distal arthrogryposis type 3 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.

Sloping shoulders

Always present (100%)HP:0200021

Proximal interphalangeal finger joint contractures

Very frequent (80-99%)HP:0100490

Talipes

Very frequent (80-99%)HP:0001883

Eye drop

Frequent (30-79%)HP:0000508

Hypoplastic mandible

Frequent (30-79%)HP:0000347

Arnold Chiari type I malformation

Occasional (5-29%)HP:0007099

Cleft of palate

Occasional (5-29%)HP:0000175

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased body height

Occasional (5-29%)HP:0004322

Eye muscle paralysis

Occasional (5-29%)HP:0000602

Hypoacusis

Occasional (5-29%)HP:0000365

Limitation of joint mobility

Occasional (5-29%)HP:0001376

Mental retardation, mild

Occasional (5-29%)HP:0001256

Partial syndactyly

Occasional (5-29%)HP:0006101

Permanent curving of the pinkie finger

Occasional (5-29%)HP:0004209

Psychomotor development deficiency

Very rare (1-4%)HP:0001263

Arthrogryposis multiplex

HP:0002804

Camptodactyly of feet

HP:0001836

Congenital hip dislocations

HP:0001374

Decreased hip abduction

HP:0003184

Decreased muscle mass

HP:0003199

Distal arthrogryposis

HP:0005684

Fetal foot inversion

HP:0001762

High arched palate

HP:0000218

Inability to straighten knee

HP:0006380

Increased lumbar lordosis

HP:0002938

Kyphoscoliosis

HP:0002751

Overlapping toes

HP:0001845

Palpebronasal fold

HP:0000286

Related Conditions

Autosomal dominant hereditary disorder(parent)

Cleft palate(parent)

Small stature(parent)

Distal arthrogryposis syndrome(parent)

Inherited arthrogryposis(parent)

Quick Facts

SNOMED CT: 897570002
UMLS CUI: C0220666
Fully Specified Name: Distal arthrogryposis type 3 (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.