Richieri Costa-da Silva syndrome

disorder

SNOMED 782941005CUI C2930978

Overview

Richieri Costa-da Silva 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Generalised bone demineralization

Very frequent (80-99%)HP:0006462

Grip myotonia

Very frequent (80-99%)HP:0012899

Intellectual disability, profound

Very frequent (80-99%)HP:0002187

Intermittent painful muscle spasms

Very frequent (80-99%)HP:0011964

Kyphoscoliosis

Very frequent (80-99%)HP:0002751

Myotonia of the upper limb

Very frequent (80-99%)HP:0012903

Pectus carinatum

Very frequent (80-99%)HP:0000768

anterior wedging

Frequent (30-79%)HP:0008422

Decreased anterioposterior diameter of lumbar vertebral bodies

Frequent (30-79%)HP:0005638

Deglutition disorder

Frequent (30-79%)HP:0002015

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

EMG: myokymic discharges

Frequent (30-79%)HP:0100288

Falls

Frequent (30-79%)HP:0002527

Hypertrophic muscles

Frequent (30-79%)HP:0003712

Hypophonia

Frequent (30-79%)HP:0001621

Absent tendon reflexes

Occasional (5-29%)HP:0001284

Asymmetric limb muscle stiffness

Occasional (5-29%)HP:0007156

Beaking of vertebral bodies

Occasional (5-29%)HP:0004568

Decreased muscle mass

Occasional (5-29%)HP:0003199

Esotropia

Occasional (5-29%)HP:0000565

Genu valga

Occasional (5-29%)HP:0002857

Hyporeflexia

Occasional (5-29%)HP:0001265

Inability to walk

Occasional (5-29%)HP:0002540

Sickled feet

Occasional (5-29%)HP:0001840

Related Conditions

Metaphyseal chondrodysplasia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Multiple system malformation syndrome(parent)

Myotonic disorder(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 782941005
UMLS CUI: C2930978
Fully Specified Name: Richieri Costa-da Silva 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.