Multiple epiphyseal dysplasia type 1
- Synonyms
- COMP-Related Multiple Epiphyseal Dysplasia
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (29 available)
Clinical features
Help- Abnormality of limbs
- Broad femoral neck
Broad femoral neck
- MedGen UID: 376496
- Concept ID: C1849016
- Finding: Finding
Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Pes planus
Pes planus
- MedGen UID: 42034
- Concept ID: C0016202
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short metacarpal
Short metacarpal
- MedGen UID: 323064
- Concept ID: C1837084
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short phalanx of finger
Short phalanx of finger
- MedGen UID: 163753
- Concept ID: C0877165
- Finding: Finding
Abnormality of limbs
- Broad femoral neck
- Abnormality of the musculoskeletal system
- Delayed epiphyseal ossification
Delayed epiphyseal ossification
- MedGen UID: 351324
- Concept ID: C1865200
- Finding: Finding
Abnormality of the musculoskeletal system
- Epiphyseal dysplasia
Epiphyseal dysplasia
- MedGen UID: 95932
- Concept ID: C0392476
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Generalized joint hypermobility
Generalized joint hypermobility
- MedGen UID: 322888
- Concept ID: C1836308
- Finding: Finding
Abnormality of the musculoskeletal system
- Irregular epiphyses
Irregular epiphyses
- MedGen UID: 337584
- Concept ID: C1846449
- Finding: Finding
Abnormality of the musculoskeletal system
- Irregular vertebral endplates
Irregular vertebral endplates
- MedGen UID: 331233
- Concept ID: C1842153
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint stiffness
Joint stiffness
- MedGen UID: 56403
- Concept ID: C0162298
- Finding: Sign or Symptom
Abnormality of the musculoskeletal system
- Legg-Calve-Perthes disease
Legg-Calve-Perthes disease
- MedGen UID: 730669
- Concept ID: C1442965
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Limited hip movement
Limited hip movement
- MedGen UID: 343601
- Concept ID: C1851542
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteoarthritis, hip
Osteoarthritis, hip
- MedGen UID: 14530
- Concept ID: C0029410
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Ovoid vertebral bodies
Ovoid vertebral bodies
- MedGen UID: 344549
- Concept ID: C1855665
- Finding: Finding
Abnormality of the musculoskeletal system
- Short femoral neck
Short femoral neck
- MedGen UID: 373033
- Concept ID: C1836184
- Finding: Finding
Abnormality of the musculoskeletal system
- Small epiphyses
Small epiphyses
- MedGen UID: 339612
- Concept ID: C1846803
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed epiphyseal ossification
- Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
- Constitutional symptom
- Ankle pain
Ankle pain
- MedGen UID: 116068
- Concept ID: C0238656
- Finding: Sign or Symptom
Constitutional symptom
- Ankle pain
- Growth abnormality
- Disproportionate short-limb short stature
Disproportionate short-limb short stature
- MedGen UID: 342370
- Concept ID: C1849937
- Finding: Finding
Growth abnormality
- Mild short stature
Mild short stature
- MedGen UID: 461427
- Concept ID: C3150077
- Finding: Finding
Growth abnormality
- Severe short stature
Severe short stature
- MedGen UID: 3931
- Concept ID: C0013336
- Finding: Disease or Syndrome
Growth abnormality
- Disproportionate short-limb short stature
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