Distal duplication 5q

disorder

SNOMED 763274002CUI C4706363

Overview

Distal duplication 5q 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.

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Brachydactyly

Frequent (30-79%)HP:0001156

Convex bridge of nose

Frequent (30-79%)HP:0000426

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Deformity of the skull

Frequent (30-79%)HP:0001363

Dental cavities

Frequent (30-79%)HP:0000670

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Flat facial shape

Frequent (30-79%)HP:0012368

Hernia

Frequent (30-79%)HP:0100790

Hypospadias

Frequent (30-79%)HP:0000047

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Large pinnae

Frequent (30-79%)HP:0000400

Low-set ears

Frequent (30-79%)HP:0000369

Moderate mental retardation

Frequent (30-79%)HP:0002342

Narrow mouth

Frequent (30-79%)HP:0000160

Palpebronasal fold

Frequent (30-79%)HP:0000286

Radial ray hypoplasia

Frequent (30-79%)HP:0002984

Short ulna

Frequent (30-79%)HP:0003022

Small nose

Frequent (30-79%)HP:0003196

Speech difficulties

Frequent (30-79%)HP:0000750

VSD

Frequent (30-79%)HP:0001629

Absent thumb

Occasional (5-29%)HP:0009777

Absent/small gallbladder

Occasional (5-29%)HP:0011466

Chorioretinal coloboma

Occasional (5-29%)HP:0000567

Eczema

Occasional (5-29%)HP:0000964

Heart tip and four chambers point towards right side of body

Occasional (5-29%)HP:0001651

Related Conditions

Partial trisomy of long arm of chromosome 5(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 763274002
UMLS CUI: C4706363
Fully Specified Name: Distal trisomy 5q 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.