Turner's phenotype, karyotype normal

disorder

SNOMED 205684007CUI C0028326

Overview

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

Treatments & Interventions

Somatropin

substance

Research Evidence

Peer-reviewed studies linked via MeSH term "Noonan Syndrome" from the MEDLINE/PubMed database.

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Social Communication in Ras Pathway Disorders: A Comprehensive Review From Genetics to Behavior in Neurofibromatosis Type 1 and Noonan Syndrome.

[object Object], [object Object], [object Object] et al. · Biol Psychiatry · 2025

PMID: 39366539Meta-AnalysisFull text (PMC)

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2025

PMID: 40332000Meta-AnalysisFull text (PMC)

Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.

[object Object], [object Object], [object Object] et al. · J Med Genet · 2025

PMID: 39643432Meta-AnalysisFull text (PMC)

Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis.

[object Object], [object Object], [object Object] et al. · Eur J Pediatr · 2025

PMID: 41310115Meta-Analysis

Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.

[object Object], [object Object], [object Object] et al. · Mol Psychiatry · 2025

PMID: 39633008Meta-Analysis

Autism spectrum disorder profiles in RASopathies: A systematic review.

[object Object], [object Object], [object Object] · Mol Genet Genomic Med · 2024

PMID: 38581124Meta-AnalysisFull text (PMC)

The Effects of Growth Hormone Treatment Beyond Growth Promotion in Patients with Genetic Syndromes: A Systematic Review of the Literature.

[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2024

PMID: 39337654Meta-AnalysisFull text (PMC)

Abnormalities of pubertal development and gonadal function in Noonan syndrome.

[object Object], [object Object], [object Object] et al. · Front Endocrinol (Lausanne) · 2023

PMID: 37576960Meta-AnalysisFull text (PMC)

Systematic literature review of lymphatic imaging-guided procedural management of Noonan syndrome.

[object Object], [object Object], [object Object] et al. · J Vasc Surg Venous Lymphat Disord · 2022

PMID: 35561969Meta-AnalysisFull text (PMC)

Differentiated Thyroid Cancer-Treatment: State of the Art.

[object Object], [object Object], [object Object] et al. · Int J Mol Sci · 2017

PMID: 28629126Meta-AnalysisFull text (PMC)

Search all PubMed articles for Turner's phenotype, karyotype normal

Research data from MEDLINE/PubMed

Signs & Symptoms

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

Abnormal vocalization

Very frequent (80-99%)HP:0002167

Abnormality of cardiovascular system morphology

Very frequent (80-99%)HP:0030680

Absent/small abdominal wall muscles

Very frequent (80-99%)HP:0010318

Anterior bulging of the globe of eye

Very frequent (80-99%)HP:0000520

Cystic hygroma of the neck

Very frequent (80-99%)HP:0000476

Decreased body height

Very frequent (80-99%)HP:0004322

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Down-slanting palpebral fissure

Very frequent (80-99%)HP:0000494

EKG abnormality

Very frequent (80-99%)HP:0003115

Eyelid ptosis

Very frequent (80-99%)HP:0000508

High arched palate

Very frequent (80-99%)HP:0000218

High forehead

Very frequent (80-99%)HP:0000348

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Hypotrophic midface

Very frequent (80-99%)HP:0011800

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased height of lower lip vermilion

Very frequent (80-99%)HP:0000179

Inverted triangular face

Very frequent (80-99%)HP:0000325

Isolated hypogonadotropic hypogonadism

Very frequent (80-99%)HP:0000044

Joint instability

Very frequent (80-99%)HP:0001382

Muscle weakness

Very frequent (80-99%)HP:0001324

Pectus carinatum

Very frequent (80-99%)HP:0000768

Pectus excavatum

Very frequent (80-99%)HP:0000767

Posteriorly angulated ears

Very frequent (80-99%)HP:0000358

Pterygium colli

Very frequent (80-99%)HP:0000465

Pulmonary artery stenosis

Very frequent (80-99%)HP:0004415

Thickened helices

Very frequent (80-99%)HP:0000391

Thickened skin folds of neck

Very frequent (80-99%)HP:0000474

Wide thorax

Very frequent (80-99%)HP:0100625

Wide-spaced nipples

Very frequent (80-99%)HP:0006610

Abnormal dermatoglyphics

Frequent (30-79%)HP:0007477

Related Conditions

Turner syndrome(parent)

Quick Facts

SNOMED CT: 205684007
UMLS CUI: C0028326
Fully Specified Name: Turner's phenotype, karyotype normal (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 1

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.