Postaxial polydactyly, dental, vertebral anomalies syndrome

disorder

SNOMED 773279006CUI C4750750

Overview

Postaxial polydactyly, dental, vertebral anomalies 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 antihelix morphology

Very frequent (80-99%)HP:0009738

Abnormal vertebral bodies

Very frequent (80-99%)HP:0003312

Brachydactyly

Very frequent (80-99%)HP:0001156

Hemivertebra

Very frequent (80-99%)HP:0002937

Hypertrophy of tooth

Very frequent (80-99%)HP:0001572

Hypoplastic vertebral bodies

Very frequent (80-99%)HP:0008479

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Thickened skin folds of neck

Very frequent (80-99%)HP:0000474

Vertebral fusion

Very frequent (80-99%)HP:0002948

Absent/underdeveloped ear lobes

Frequent (30-79%)HP:0009906

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased body height

Frequent (30-79%)HP:0004322

Dystrophic tooth enamel

Frequent (30-79%)HP:0000682

Enlarged mandible

Frequent (30-79%)HP:0000303

Hunched back

Frequent (30-79%)HP:0002808

Increased reflexes

Frequent (30-79%)HP:0001347

Low posterior hair line

Frequent (30-79%)HP:0002162

Missing between one and six teeth

Frequent (30-79%)HP:0000668

Palpebronasal fold

Frequent (30-79%)HP:0000286

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Abnormality of tear production

Occasional (5-29%)HP:0000632

Abnormality of the upper urinary tract

Occasional (5-29%)HP:0010935

Cleft of palate

Occasional (5-29%)HP:0000175

Dislocated patellae

Occasional (5-29%)HP:0002999

Radiohumeral dislocation

Occasional (5-29%)HP:0003042

Rhomboid shaped head

Occasional (5-29%)HP:0001357

Torticollis, congenital

Occasional (5-29%)HP:0005988

Vaginal hernia

Occasional (5-29%)HP:0100672

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Accessory digit(parent)

Congenital anomaly of skeletal bone(parent)

Congenital anomaly of spine(parent)

Congenital anomaly of tooth(parent)

Hereditary disorder of musculoskeletal system(parent)

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

Disorder of vertebral column(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of tooth(parent)

Abnormality of axial skeleton morphology(parent)

Quick Facts

SNOMED CT: 773279006
UMLS CUI: C4750750
Fully Specified Name: Postaxial polydactyly, dental, vertebral anomalies syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.