Koolen De Vries syndrome

disorder

SNOMED 717338006CUI C1864871

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.

Blepharophimosis

Very frequent (80-99%)HP:0000581

Coarse face

Very frequent (80-99%)HP:0000280

Eclabium of lower lip

Very frequent (80-99%)HP:0000232

Eyelid ptosis

Very frequent (80-99%)HP:0000508

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Happy aspect

Very frequent (80-99%)HP:0100024

High forehead

Very frequent (80-99%)HP:0000348

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mongoloid slant

Very frequent (80-99%)HP:0000582

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Pear-shaped nose

Very frequent (80-99%)HP:0000447

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Potato nose

Very frequent (80-99%)HP:0000414

Protruding ear

Very frequent (80-99%)HP:0000411

Small nasal alae

Very frequent (80-99%)HP:0000430

Thickening of the alae nasi

Very frequent (80-99%)HP:0009928

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Abnormality of hair texture

Frequent (30-79%)HP:0010719

Anteverted ears

Frequent (30-79%)HP:0040080

Arachnodactyly

Frequent (30-79%)HP:0001166

Arnold Chiari type I malformation

Frequent (30-79%)HP:0007099

Atria septal defect

Frequent (30-79%)HP:0001631

Cardiac anomaly

Frequent (30-79%)HP:0001627

Central nervous system disease

Frequent (30-79%)HP:0002011

Cryptorchidism

Frequent (30-79%)HP:0000028

Dental anomalies

Frequent (30-79%)HP:0000164

Developmental dysplasia of the hip

Frequent (30-79%)HP:0001385

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Related Conditions

Autosomal dominant hereditary disorder(parent)

Anomaly of chromosome pair 17(parent)

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

Developmental delay(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 717338006
UMLS CUI: C1864871
Fully Specified Name: Koolen De Vries 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.