← Back to Conditions

Muenke syndrome

disorder
SNOMED 787407003CUI C1864436

Overview

Muenke syndrome 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.

Anterior bulging of the globe of eye
Frequent (30-79%)HP:0000520
Broad big toe
Frequent (30-79%)HP:0010055
Broad thumbs
Frequent (30-79%)HP:0011304
Cone-shaped epiphyses
Frequent (30-79%)HP:0010579
Cone-shaped epiphyses of the fingers
Frequent (30-79%)HP:0010230
Craniosynostosis of coronal suture
Frequent (30-79%)HP:0004440
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Eye drop
Frequent (30-79%)HP:0000508
Flattening of head
Frequent (30-79%)HP:0001357
Fused wrist bones
Frequent (30-79%)HP:0009702
High arched palate
Frequent (30-79%)HP:0000218
Hypoacusis
Frequent (30-79%)HP:0000365
Hypotrophic midface
Frequent (30-79%)HP:0011800
Increased distance between eyes
Frequent (30-79%)HP:0000316
Intracranial hypertension
Frequent (30-79%)HP:0002516
Narrow, high-arched roof of mouth
Frequent (30-79%)HP:0002705
Poor school performance
Frequent (30-79%)HP:0001249
Recurrent middle ear infection
Frequent (30-79%)HP:0000403
Sensorineural deafness
Frequent (30-79%)HP:0000407
Short hands
Frequent (30-79%)HP:0004279
Small feet
Frequent (30-79%)HP:0001773
Squint
Frequent (30-79%)HP:0000486
Tarsal bone synostosis
Frequent (30-79%)HP:0008368
Thimble-shaped middle bones of hand
Frequent (30-79%)HP:0006193
Wide skull shape
Frequent (30-79%)HP:0000248
Zygomatic flattening
Frequent (30-79%)HP:0000272
Big calvaria
Occasional (5-29%)HP:0000256
Brachydactyly
Occasional (5-29%)HP:0001156
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Clinodactyly
Occasional (5-29%)HP:0030084

Related Conditions

Autosomal dominant hereditary disorder(parent)
Fibroblast growth factor receptor 3-related craniosynostosis(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Congenital synostosis of coronal suture of skull(parent)

Quick Facts

SNOMED CT
787407003
UMLS CUI
C1864436
Fully Specified Name
Muenke 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.