Pallister W syndrome

disorder

SNOMED 719020006CUI C0796110

Overview

Pallister W 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.

Abnormality of the scalp hair

Very frequent (80-99%)HP:0100037

Absence of maxillary central incisor

Very frequent (80-99%)HP:0006293

Alternating esotropia

Very frequent (80-99%)HP:0001137

Breaking out

Very frequent (80-99%)HP:0001061

Broad uvula

Very frequent (80-99%)HP:0010809

Broad, upturned nose

Very frequent (80-99%)HP:0000455

Camptodactyly

Very frequent (80-99%)HP:0012385

Curvature of digit

Very frequent (80-99%)HP:0030084

Depressed nasal root/bridge

Very frequent (80-99%)HP:0005280

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

Elbow dislocation

Very frequent (80-99%)HP:0003042

Fallen arches

Very frequent (80-99%)HP:0001763

Generalized tonic-clonic seizure (without specification of onset)

Very frequent (80-99%)HP:0002069

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased intercanthal distance

Very frequent (80-99%)HP:0000506

Intoe

Very frequent (80-99%)HP:0001840

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Outward turned elbows

Very frequent (80-99%)HP:0002967

Pes cavus

Very frequent (80-99%)HP:0001761

Protruding forehead

Very frequent (80-99%)HP:0011220

Radial bowing

Very frequent (80-99%)HP:0002986

Short ulna

Very frequent (80-99%)HP:0003022

Submucous cleft hard palate

Very frequent (80-99%)HP:0000176

Upper lip pit

Very frequent (80-99%)HP:0100268

Related Conditions

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

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 719020006
UMLS CUI: C0796110
Fully Specified Name: Pallister W 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.