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Metatropic dysplasia group

disorder
SNOMED 22764001CUI C0265281

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 enchondral ossification
Always present (100%)HP:0003336
Cone-shaped epiphyses
Always present (100%)HP:0010579
Dumbbell-shaped metaphyses
Always present (100%)HP:0002810
Dumbbell-shaped thighbone
Always present (100%)HP:0006375
Enlarged joints
Always present (100%)HP:0003037
Flaring of rib cage
Always present (100%)HP:0000904
Flattened vertebral bodies
Always present (100%)HP:0000926
Flexion contractures
Always present (100%)HP:0001371
Narrow sciatic notches
Always present (100%)HP:0003375
Small odontoid peg
Always present (100%)HP:0003311
Splayed metaphyses
Always present (100%)HP:0003015
Abnormal compact bone morphology
Very frequent (80-99%)HP:0003103
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal skeletal development
Very frequent (80-99%)HP:0002652
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of the intervertebral disc
Very frequent (80-99%)HP:0005108
Coarse metaphyseal trabecularization
Very frequent (80-99%)HP:0100670
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Concave bridge of nose
Very frequent (80-99%)HP:0005280
Cupped ribs
Very frequent (80-99%)HP:0000887
Flared iliac wings
Very frequent (80-99%)HP:0002869
Halberd-shaped pelvis bone
Very frequent (80-99%)HP:0002826
High forehead
Very frequent (80-99%)HP:0000348
Hunched back
Very frequent (80-99%)HP:0002808
Long rib cage
Very frequent (80-99%)HP:0100818
Low chest circumference
Very frequent (80-99%)HP:0000774
Micromelia
Very frequent (80-99%)HP:0002983
Rib anomalies
Very frequent (80-99%)HP:0000772
Short ribs
Very frequent (80-99%)HP:0000773
Stiff joint
Very frequent (80-99%)HP:0001387

Related Conditions

Schneckenbecken dysplasia(child)
Parastremmatic dwarfism(child)
Osteochondrodysplasia syndrome(parent)
Skeletal dysplasia(parent)
Congenital malformation syndromes associated with short stature(parent)
Congenital anomaly of skeletal bone(parent)

Quick Facts

SNOMED CT
22764001
UMLS CUI
C0265281
Fully Specified Name
Metatropic dysplasia (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.