16p12.1p12.3 triplication syndrome

disorder

SNOMED 1251450006CUI C5680097

Overview

16p12.1p12.3 triplication 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.

Bulbous nose

Frequent (30-79%)HP:0000414

Cardiac anomaly

Frequent (30-79%)HP:0001627

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Delayed fine motor development

Frequent (30-79%)HP:0010862

Delayed gross motor development

Frequent (30-79%)HP:0002194

Hypotrophic malar bone

Frequent (30-79%)HP:0000272

Increased length of philtrum

Frequent (30-79%)HP:0000343

Low-set ears

Frequent (30-79%)HP:0000369

Narrow, high-arched roof of mouth

Frequent (30-79%)HP:0002705

Palpebronasal fold

Frequent (30-79%)HP:0000286

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Prominent ear lobes

Frequent (30-79%)HP:0009748

Short palpebral fissure

Frequent (30-79%)HP:0012745

Tapering fingers

Frequent (30-79%)HP:0001182

Unilateral ptosis

Frequent (30-79%)HP:0007687

Abnormal intrahepatic bile duct morphology

Occasional (5-29%)HP:0011040

Abnormal tricuspid valve morphology

Occasional (5-29%)HP:0001702

Anxiety disease

Occasional (5-29%)HP:0000739

Atria septal defect

Occasional (5-29%)HP:0001631

Brachydactyly

Occasional (5-29%)HP:0001156

Bunion

Occasional (5-29%)HP:0001822

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Chronic constipation

Occasional (5-29%)HP:0012450

Clinodactyly of the 4th finger

Occasional (5-29%)HP:0040025

Cryptorchidism, bilateral

Occasional (5-29%)HP:0008689

Decreased response to growth hormone stimulation test

Occasional (5-29%)HP:0000824

Dermatillomania

Occasional (5-29%)HP:0012166

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Hyperopia

Occasional (5-29%)HP:0000540

Hypertrophy of cheeks

Occasional (5-29%)HP:0000293

Related Conditions

Congenital anomaly of finger(parent)

Global developmental delay(parent)

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

Anomaly of chromosome pair 16(parent)

Quick Facts

SNOMED CT: 1251450006
UMLS CUI: C5680097
Fully Specified Name: 16p12.1p12.3 triplication syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.