Familial dysautonomia with contractures

disorder

SNOMED 1279838005CUI C3539003

Overview

Familial dysautonomia with contractures 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.

Central hypotonia

Always present (100%)HP:0001252

Flexion contractures

Always present (100%)HP:0001371

Hypotonia, in neonatal onset

Always present (100%)HP:0001319

Absent corneal reflex

Frequent (30-79%)HP:0034252

Absent tear secretion

Frequent (30-79%)HP:0000522

Absent tendon reflexes

Frequent (30-79%)HP:0001284

Apnea

Frequent (30-79%)HP:0002104

Bilateral vocal cord paresis

Frequent (30-79%)HP:0012822

Blotching pigmentation of the skin

Frequent (30-79%)HP:0007610

Bradycardia

Frequent (30-79%)HP:0001662

Corneal scarring

Frequent (30-79%)HP:0000559

Erythema

Frequent (30-79%)HP:0010783

Feet or buttocks of fetus positioned near opening of uterus

Frequent (30-79%)HP:0001623

Foot, talipes equinovarus

Frequent (30-79%)HP:0001762

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

High arched palate

Frequent (30-79%)HP:0000218

High blood pressure

Frequent (30-79%)HP:0000822

Hyperpyrexia

Frequent (30-79%)HP:0033031

Limited hip extension

Frequent (30-79%)HP:0003093

Low-set ears

Frequent (30-79%)HP:0000369

Psychomotor retardation, profound

Frequent (30-79%)HP:0012736

Pulmonary aspiration

Frequent (30-79%)HP:0002835

Racing heart

Frequent (30-79%)HP:0001649

Respiratory distress, neonatal

Frequent (30-79%)HP:0002643

Retinal bleeding

Frequent (30-79%)HP:0000573

Slack jawed appearance

Frequent (30-79%)HP:0000194

Small chin

Frequent (30-79%)HP:0000331

Small for gestational age infant

Frequent (30-79%)HP:0001511

Stridor

Frequent (30-79%)HP:0010307

Related Conditions

Hereditary sensory and autonomic neuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1279838005
UMLS CUI: C3539003
Fully Specified Name: Hereditary sensory and autonomic neuropathy type 6 (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.