← Back to Conditions

De Lange syndrome

disorder
SNOMED 40354009CUI C0270972

Overview

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

Clinical Trials

1
Total Trials
1
Recruiting
0
With Results

Recent Trials

Physical Activity and Community EmPOWERment Project

NCT06740162N/ARecruiting376 enrolled
View all 1 trials on ClinicalTrials.gov

Signs & Symptoms

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

Coronal hypospadias
Always present (100%)HP:0008743
Delayed CNS myelination
Always present (100%)HP:0002188
Delayed motor milestones
Always present (100%)HP:0001270
Hydronephrosis
Always present (100%)HP:0000126
Poor sucking
Always present (100%)HP:0002033
Repetitive behaviour Stereotypic behaviour
Always present (100%)HP:0000733
Weak cry
Always present (100%)HP:0001612
Atretic auditory canal
Very frequent (80-99%)HP:0000413
Attachment of thumb close to wrist
Very frequent (80-99%)HP:0009623
Boxer's nose deformity
Very frequent (80-99%)HP:0011120
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Curly eyelashes
Very frequent (80-99%)HP:0007665
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of lower jaw
Very frequent (80-99%)HP:0000347
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Decreased volume of lip vermillion
Very frequent (80-99%)HP:0000233
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Delayed eruption of teeth
Very frequent (80-99%)HP:0000684
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Downturned corners of mouth
Very frequent (80-99%)HP:0002714
Gastroesophageal reflux disease
Very frequent (80-99%)HP:0002020
Generalized hirsutism
Very frequent (80-99%)HP:0002230
Growth delay as children
Very frequent (80-99%)HP:0008897
High arched palate
Very frequent (80-99%)HP:0000218
Hypertonia
Very frequent (80-99%)HP:0001276
Increased length of eyelashes
Very frequent (80-99%)HP:0000527
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Low anterior hairline
Very frequent (80-99%)HP:0000294

Related Conditions

Multiple malformation syndrome, small stature, without skeletal dysplasia(parent)
Congenital anomaly of nervous system(parent)

Quick Facts

SNOMED CT
40354009
UMLS CUI
C0270972
Fully Specified Name
De Lange syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Clinical Trials
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.