Brain malformation, congenital heart disease, postaxial polydactyly syndrome

disorder

SNOMED 717943008CUI C4303545

Overview

Brain malformation, congenital heart disease, postaxial polydactyly 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

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Dysplastic ears

Very frequent (80-99%)HP:0000377

Dystrophic nails

Very frequent (80-99%)HP:0008404

Global developmental delay, severe

Very frequent (80-99%)HP:0011344

Increased length of philtrum

Very frequent (80-99%)HP:0000343

Mongoloid slant

Very frequent (80-99%)HP:0000582

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Protruding lower lip

Very frequent (80-99%)HP:0000232

Small for gestational age infant

Very frequent (80-99%)HP:0001511

VSD

Very frequent (80-99%)HP:0001629

Atria septal defect

Frequent (30-79%)HP:0001631

Cerebellar vermis aplasia or hypoplasia

Frequent (30-79%)HP:0006817

Coarse hair texture

Frequent (30-79%)HP:0002208

Fragile hair

Frequent (30-79%)HP:0002299

Hair loss

Frequent (30-79%)HP:0001596

Pulmonary artery stenosis

Frequent (30-79%)HP:0004415

Small cerebellum

Frequent (30-79%)HP:0001321

Small kidneys

Frequent (30-79%)HP:0000089

Wide-spaced nipples

Frequent (30-79%)HP:0006610

Neurohypophysis hypoplasia

Occasional (5-29%)HP:0011757

Pituitary disease

Occasional (5-29%)HP:0011747

Related Conditions

Congenital heart disease(parent)

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

Congenital anomaly of brain(parent)

Accessory digit(parent)

Quick Facts

SNOMED CT: 717943008
UMLS CUI: C4303545
Fully Specified Name: Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.