Postaxial polydactyly and intellectual disability syndrome

disorder

SNOMED 721017000CUI C1850320

Overview

Postaxial polydactyly and intellectual disability 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.

Intellectual disability, profound

Very frequent (80-99%)HP:0002187

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Mandibular excess

Frequent (30-79%)HP:0000303

Nonverbal

Frequent (30-79%)HP:0001344

Posterior polydactyly of foot

Frequent (30-79%)HP:0001830

Problems speaking

Frequent (30-79%)HP:0002465

Short toes

Frequent (30-79%)HP:0001831

Webbed fingers

Frequent (30-79%)HP:0010554

Absent ear lobes

Occasional (5-29%)HP:0000387

Accessory nipples

Occasional (5-29%)HP:0002558

Bilateral crossbite

Occasional (5-29%)HP:0000689

Bilateral fifth digit clinodactyly

Occasional (5-29%)HP:0004209

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Fixed flexion at the elbow joint

Occasional (5-29%)HP:0002987

High arched palate

Occasional (5-29%)HP:0000218

Inability to straighten knee

Occasional (5-29%)HP:0006380

Prominent finger pads

Occasional (5-29%)HP:0001212

Proximal interphalangeal finger joint contractures

Occasional (5-29%)HP:0100490

Small earlobes

Occasional (5-29%)HP:0000385

Small for gestational age infant

Occasional (5-29%)HP:0001511

Thick eyebrow

Occasional (5-29%)HP:0000574

Tubular fingernails

Occasional (5-29%)HP:0001812

Mental-retardation

HP:0001249

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Dysostosis(parent)

Hereditary disorder of musculoskeletal system(parent)

Accessory digit(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 721017000
UMLS CUI: C1850320
Fully Specified Name: Postaxial polydactyly and intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.