← Back to Conditions

Holoprosencephaly craniosynostosis syndrome

disorder
SNOMED 715434005CUI C1832424

Overview

Holoprosencephaly craniosynostosis 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.

Bilateral fifth digit clinodactyly
Very frequent (80-99%)HP:0004209
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Deformity of the skull
Very frequent (80-99%)HP:0001363
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Hypoplastic vertebral bodies
Very frequent (80-99%)HP:0008479
Intellectual impairment
Very frequent (80-99%)HP:0100543
Mongoloid slant
Very frequent (80-99%)HP:0000582
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Ocular hypotelorism
Very frequent (80-99%)HP:0000601
Palpebronasal fold
Very frequent (80-99%)HP:0000286
Retinal pigmentary anomaly
Very frequent (80-99%)HP:0007703
Rhomboid shaped head
Very frequent (80-99%)HP:0001357
Short palpebral fissure
Very frequent (80-99%)HP:0012745
Single brain ventricle
Very frequent (80-99%)HP:0001360
Squint
Very frequent (80-99%)HP:0000486
Unbalanced face
Very frequent (80-99%)HP:0000324
Valgus hip
Very frequent (80-99%)HP:0002673
Wide cranium shape
Very frequent (80-99%)HP:0000248
Craniosynostosis of coronal suture
HP:0004440
Lambdoid suture craniosynostosis
HP:0004443
Semilobar holoprosencephaly
HP:0002507

Related Conditions

Holoprosencephaly sequence(parent)
Craniosynostosis syndrome(parent)

Quick Facts

SNOMED CT
715434005
UMLS CUI
C1832424
Fully Specified Name
Holoprosencephaly craniosynostosis syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
24
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.