3q29 microduplication

disorder

SNOMED 717973004CUI C2749873

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bulbous nose

Frequent (30-79%)HP:0000414

Central hypotonia

Frequent (30-79%)HP:0001252

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dental anomalies

Frequent (30-79%)HP:0000164

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Fallen arches

Frequent (30-79%)HP:0001763

Mental deficiency

Frequent (30-79%)HP:0001249

Multiple palmar creases

Frequent (30-79%)HP:0006114

Nasal hypoplasia

Frequent (30-79%)HP:0003196

Obesity

Frequent (30-79%)HP:0001513

Round, full face

Frequent (30-79%)HP:0000311

Aniridia

Occasional (5-29%)HP:0000526

Big calvaria

Occasional (5-29%)HP:0000256

Blepharophimosis

Occasional (5-29%)HP:0000581

Camptodactyly of feet

Occasional (5-29%)HP:0001836

Cataract

Occasional (5-29%)HP:0000518

Cleft of palate

Occasional (5-29%)HP:0000175

Craniosyostosis

Occasional (5-29%)HP:0001363

Decreased size of eyeball

Occasional (5-29%)HP:0000568

Decreased width of the skull

Occasional (5-29%)HP:0004422

Ectopic anus

Occasional (5-29%)HP:0004397

Hardening of skin and connective tissue

Occasional (5-29%)HP:0000647

Hearing impairment

Occasional (5-29%)HP:0000365

High arched palate

Occasional (5-29%)HP:0000218

High forehead

Occasional (5-29%)HP:0000348

Increased width of bridge of nose

Occasional (5-29%)HP:0000431

Iris coloboma

Occasional (5-29%)HP:0000612

Low posterior hair line

Occasional (5-29%)HP:0002162

Low-set ears

Occasional (5-29%)HP:0000369

Related Conditions

Partial trisomy of chromosome 3(parent)

Quick Facts

SNOMED CT: 717973004
UMLS CUI: C2749873
Fully Specified Name: Chromosome 3q29 duplication 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.