Distal duplication 17q

disorder

SNOMED 766051001CUI C4707663

Overview

Distal duplication 17q 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.

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Abnormal temporal bone morphology

Frequent (30-79%)HP:0009911

Blepharophimosis

Frequent (30-79%)HP:0000581

Bunion

Frequent (30-79%)HP:0001822

Cleft of palate

Frequent (30-79%)HP:0000175

Concave bridge of nose

Frequent (30-79%)HP:0005280

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased body height

Frequent (30-79%)HP:0004322

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased projection of lower jaw

Frequent (30-79%)HP:0000347

Decreased size of cranium

Frequent (30-79%)HP:0000252

Decreased volume of upper lip

Frequent (30-79%)HP:0000219

Frequent vomiting

Frequent (30-79%)HP:0002572

Frontal protuberance

Frequent (30-79%)HP:0002007

Genu valga

Frequent (30-79%)HP:0002857

High arched palate

Frequent (30-79%)HP:0000218

Hypoplasia of columella

Frequent (30-79%)HP:0002000

Increased distance between eyes

Frequent (30-79%)HP:0000316

Large mouth

Frequent (30-79%)HP:0000154

Low posterior hair line

Frequent (30-79%)HP:0002162

Palpebronasal fold

Frequent (30-79%)HP:0000286

Pectus carinatum

Frequent (30-79%)HP:0000768

Pes cavus

Frequent (30-79%)HP:0001761

Polydactyly of the hand

Frequent (30-79%)HP:0001161

Posteriorly angulated ears

Frequent (30-79%)HP:0000358

Rhizomelic limb shortening

Frequent (30-79%)HP:0008905

Short stature, severe

Frequent (30-79%)HP:0003510

VUR

Frequent (30-79%)HP:0000076

Abducens nerve paralysis

Occasional (5-29%)HP:0006897

Related Conditions

17q24-qter duplication syndrome(child)

17q partial trisomy syndrome(parent)

Quick Facts

SNOMED CT: 766051001
UMLS CUI: C4707663
Fully Specified Name: Distal trisomy 17q 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.