Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome

disorder

SNOMED 719833004CUI C4304402

Overview

Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay 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.

Abnormal deposits of calcium in the brain

Very frequent (80-99%)HP:0002514

Cognitive delay

Very frequent (80-99%)HP:0001263

Constipation

Very frequent (80-99%)HP:0002019

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Fetal megacystis

Very frequent (80-99%)HP:0010956

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Intestinal pseudoobstruction

Very frequent (80-99%)HP:0004389

Multicystic kidney dysplasia

Very frequent (80-99%)HP:0000003

Retrognathia

Very frequent (80-99%)HP:0000278

Squint

Very frequent (80-99%)HP:0000486

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Arachnodactyly

Frequent (30-79%)HP:0001166

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased size of cranium

Frequent (30-79%)HP:0000252

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hypoplastic hands

Frequent (30-79%)HP:0004279

Laryngomalacia

Frequent (30-79%)HP:0001601

Low-set ears

Frequent (30-79%)HP:0000369

Muscular hypotonia

Frequent (30-79%)HP:0001252

Nasolacrimal duct stenosis

Frequent (30-79%)HP:0007678

Partial syndactyly

Frequent (30-79%)HP:0006101

Protruding ear

Frequent (30-79%)HP:0000411

Small for gestational age infant

Frequent (30-79%)HP:0001511

Sparse eyebrow

Frequent (30-79%)HP:0045075

Related Conditions

Familial visceral neuropathy(parent)

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

Recessive hereditary disorder (autosomal)(parent)

Congenital degeneration of nervous system(parent)

Developmental delay(parent)

Congenital malformation of autonomic nervous system(parent)

Congenital anomaly of peripheral nerve(parent)

Congenital anomaly of intestinal tract(parent)

Congenital anomaly of cerebrum(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 719833004
UMLS CUI: C4304402
Fully Specified Name: Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay 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.