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Metaphyseal chondrodysplasia, McKusick type

disorder
SNOMED 7720002CUI C0220748

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.

Abnormal bone maturation
Very frequent (80-99%)HP:0011849
Abnormal distal phalanx morphology of finger
Very frequent (80-99%)HP:0009832
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal shape of shaft of long bone
Very frequent (80-99%)HP:0000940
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of the pancreas
Very frequent (80-99%)HP:0001732
Abnormally ossified vertebrae
Very frequent (80-99%)HP:0100569
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Biconvex vertebral bodies
Very frequent (80-99%)HP:0004625
Bowed long bones
Very frequent (80-99%)HP:0006487
Disease of the heart muscle
Very frequent (80-99%)HP:0001638
Dwarfism, short-limbed
Very frequent (80-99%)HP:0008873
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Grey sclerae
Very frequent (80-99%)HP:0000592
Heart septal defect
Very frequent (80-99%)HP:0001671
High-grade hypermetropia
Very frequent (80-99%)HP:0008499
Hooked nose
Very frequent (80-99%)HP:0000444
Hypotrichosis
Very frequent (80-99%)HP:0008070
Incomplete closure of the vertebral arch
Very frequent (80-99%)HP:0010301
Increased lumbar lordosis
Very frequent (80-99%)HP:0002938
Large facies
Very frequent (80-99%)HP:0100729
Limited forearm extension
Very frequent (80-99%)HP:0001377
Low blood calcium levels
Very frequent (80-99%)HP:0002901
Mesomelia
Very frequent (80-99%)HP:0003027
Metaphyseal chondrodysplasia
Very frequent (80-99%)HP:0005871
Metaphyseal dysplasia
Very frequent (80-99%)HP:0100255
Micromelia
Very frequent (80-99%)HP:0002983
Narrowing of windpipe
Very frequent (80-99%)HP:0002777
Neutropoenia
Very frequent (80-99%)HP:0001875

Related Conditions

Metaphyseal chondrodysplasia(parent)
Congenital anomaly of cartilage(parent)
Osteochondropathy(parent)
Recessive hereditary disorder (autosomal)(parent)
Connective tissue hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
7720002
UMLS CUI
C0220748
Fully Specified Name
Metaphyseal chondrodysplasia, McKusick 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.