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Cardiocranial syndrome Pfeiffer type

disorder
SNOMED 720606005CUI C1857495

Overview

Cardiocranial syndrome Pfeiffer type 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.

Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Growth deficiency
Very frequent (80-99%)HP:0001510
Low-set ears
Very frequent (80-99%)HP:0000369
Sagittal suture synostosis
Very frequent (80-99%)HP:0004442
Small for gestational age infant
Very frequent (80-99%)HP:0001511
Temporomandibular joint fusion
Very frequent (80-99%)HP:0012478
Abnormal hair whorl
Frequent (30-79%)HP:0010721
Abnormal trachea morphology
Frequent (30-79%)HP:0002778
Camptodactyly of index finger
Frequent (30-79%)HP:0009540
Cardiac anomaly
Frequent (30-79%)HP:0001627
Cryptorchidism
Frequent (30-79%)HP:0000028
Decreased body height
Frequent (30-79%)HP:0004322
Decreased hair growth
Frequent (30-79%)HP:0008070
Deep palmar creases
Frequent (30-79%)HP:0006191
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Episodic tachypnea
Frequent (30-79%)HP:0002876
Hypospadias
Frequent (30-79%)HP:0000047
Increased distance between eyes
Frequent (30-79%)HP:0000316
Increased width of bridge of nose
Frequent (30-79%)HP:0000431
Low intelligence
Frequent (30-79%)HP:0001249
Narrow skull shape
Frequent (30-79%)HP:0000268
Narrow, high-arched roof of mouth
Frequent (30-79%)HP:0002705
Plantar flexion contractures
Frequent (30-79%)HP:0008112
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Protruding forehead
Frequent (30-79%)HP:0011220
Short penis
Frequent (30-79%)HP:0000054
Slender fingers
Frequent (30-79%)HP:0001238
Small hypothenar eminence
Frequent (30-79%)HP:0010487
Torticollis
Frequent (30-79%)HP:0000473

Related Conditions

Congenital heart disease(parent)
Multiple system malformation syndrome(parent)
Developmental delay(parent)
Cardiovascular system hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)
Interparietal craniosynostosis(parent)

Quick Facts

SNOMED CT
720606005
UMLS CUI
C1857495
Fully Specified Name
Cardiocranial syndrome Pfeiffer type (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.