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Hajdu-Cheney syndrome

disorder
SNOMED 63122002CUI C0432286

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.

Hearing loss, conductive
Always present (100%)HP:0000405
Hypotrophic malar bone
Always present (100%)HP:0000272
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Abnormality of the skull bones
Very frequent (80-99%)HP:0000929
Acroosteolysis of feet
Very frequent (80-99%)HP:0001842
Brachydactyly
Very frequent (80-99%)HP:0001156
Breakdown of bone
Very frequent (80-99%)HP:0002797
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased mineralization of skull
Very frequent (80-99%)HP:0004331
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Deformity of face
Very frequent (80-99%)HP:0001999
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Osteopenia
Very frequent (80-99%)HP:0000938
Osteoporosis
Very frequent (80-99%)HP:0000939
Partial absence of toe
Very frequent (80-99%)HP:0011305
Pyorrhea
Very frequent (80-99%)HP:0000704
Short toes
Very frequent (80-99%)HP:0001831
Thick eyebrow
Very frequent (80-99%)HP:0000574
Abnormal mandible morphology
Frequent (30-79%)HP:0000277
Abnormality of the fingernails
Frequent (30-79%)HP:0001231
Aplasia of frontal sinus
Frequent (30-79%)HP:0002688
Arthralgias
Frequent (30-79%)HP:0002829
Basilar impression
Frequent (30-79%)HP:0005758
Biconcave 'codfish' vertebrae
Frequent (30-79%)HP:0004586
Bone pain
Frequent (30-79%)HP:0002653
Chiari malformation
Frequent (30-79%)HP:0002308
Cobb angle greater than ten degrees
Frequent (30-79%)HP:0002650

Related Conditions

Acroosteolysis(parent)
Osteochondrodysplasia syndrome(parent)
Skeletal dysplasia(parent)
Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT
63122002
UMLS CUI
C0432286
Fully Specified Name
Hajdu-Cheney 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.