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Saethre-Chotzen syndrome

disorder
SNOMED 83015004CUI C0175699

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.

Abnormality of the skull bones
Very frequent (80-99%)HP:0000929
Craniosynostosis of coronal suture
Very frequent (80-99%)HP:0004440
Curvature of little finger
Very frequent (80-99%)HP:0004209
Deformity of the skull
Very frequent (80-99%)HP:0001363
Partial syndactyly
Very frequent (80-99%)HP:0006101
Unbalanced face
Very frequent (80-99%)HP:0000324
Abnormal antihelix morphology
Frequent (30-79%)HP:0009738
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Brachydactyly
Frequent (30-79%)HP:0001156
Convex bridge of nose
Frequent (30-79%)HP:0000426
Delayed closure of the fontanelles
Frequent (30-79%)HP:0000270
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Dysplastic ears
Frequent (30-79%)HP:0000377
Eyelid ptosis
Frequent (30-79%)HP:0000508
Flattening of cranial vault
Frequent (30-79%)HP:0001357
Hooked nose
Frequent (30-79%)HP:0000444
Hyperplastic helix crus
Frequent (30-79%)HP:0009899
Increased distance between eyes
Frequent (30-79%)HP:0000316
Involuntary closure of eyelid
Frequent (30-79%)HP:0000643
Low anterior hairline
Frequent (30-79%)HP:0000294
Microtia
Frequent (30-79%)HP:0008551
Narrow internal auditory canal
Frequent (30-79%)HP:0011386
Narrow palate
Frequent (30-79%)HP:0000189
Nasolacrimal duct stenosis
Frequent (30-79%)HP:0007678
Open bite
Frequent (30-79%)HP:0010807
Prominent swayback
Frequent (30-79%)HP:0003307
Squint
Frequent (30-79%)HP:0000486
Wide cranium shape
Frequent (30-79%)HP:0000248
Abnormal distribution of hair
Occasional (5-29%)HP:0010720
Abnormal vertebral bodies
Occasional (5-29%)HP:0003312

Related Conditions

Acrocephalosyndactyly(parent)
Autosomal dominant hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Congenital synostosis of coronal suture of skull(parent)

Quick Facts

SNOMED CT
83015004
UMLS CUI
C0175699
Fully Specified Name
Saethre-Chotzen 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.