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Kreiborg Pakistani syndrome

disorder
SNOMED 773332008CUI C3280073

Overview

Kreiborg Pakistani 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.

Angle class 2 malocclusion
Always present (100%)HP:0000689
Broad big toe
Always present (100%)HP:0010055
Craniofacial dysostosis
Always present (100%)HP:0004439
Craniosynostosis of coronal suture
Always present (100%)HP:0004440
Delayed eruption of teeth
Always present (100%)HP:0000684
Lateral deviation of halluces
Always present (100%)HP:0001822
Metopic synostosis
Always present (100%)HP:0011330
Papillitis
Always present (100%)HP:0001085
partial or complete syndactyly 2nd-3rd toes
Always present (100%)HP:0004691
Sagittal suture synostosis
Always present (100%)HP:0004442
Deficiency of upper jaw bones
Very frequent (80-99%)HP:0000327
Wide cranium shape
Very frequent (80-99%)HP:0000248
Absent malleus
Frequent (30-79%)HP:0011455
Chiari malformation
Frequent (30-79%)HP:0002308
Chronic middle ear infection
Frequent (30-79%)HP:0000389
Decreased body height
Frequent (30-79%)HP:0004322
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Dysplastic fingernails
Frequent (30-79%)HP:0100798
Epilepsy
Frequent (30-79%)HP:0001250
Flat forehead
Frequent (30-79%)HP:0004425
Flat midface
Frequent (30-79%)HP:0011800
Flat nasal bridge
Frequent (30-79%)HP:0005280
Fluid-filled cyst in spinal cord
Frequent (30-79%)HP:0003396
Frontal protuberance
Frequent (30-79%)HP:0002007
Hearing loss, conductive
Frequent (30-79%)HP:0000405
High arched palate
Frequent (30-79%)HP:0000218
High forehead
Frequent (30-79%)HP:0000348
Hooked nose
Frequent (30-79%)HP:0000444
Inadequate arch length for tooth size
Frequent (30-79%)HP:0000678
Increased nasal width
Frequent (30-79%)HP:0000445

Related Conditions

Recessive hereditary disorder (autosomal)(parent)
Craniosynostosis syndrome(parent)
Congenital anomaly of tooth(parent)
Hereditary disorder of musculoskeletal system(parent)
Multiple system malformation syndrome(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of tooth(parent)

Quick Facts

SNOMED CT
773332008
UMLS CUI
C3280073
Fully Specified Name
Craniosynostosis and dental anomalies 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.