Diaphyseal dysplasia
- Synonyms
- Camurati-Engelmann Disease; Diaphyseal dysplasia 1, progressive; Engelmann disease; Progressive diaphyseal dysplasia
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Stephanie E Wallace
- William R Wilcox
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (38 available)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Bone marrow hypocellularity
Bone marrow hypocellularity
- MedGen UID: 383749
- Concept ID: C1855710
- Finding: Finding
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Carious teeth
Carious teeth
- MedGen UID: 8288
- Concept ID: C0011334
- Finding: Disease or Syndrome
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Carious teeth
- Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu valgum
- Abnormality of the digestive system
- Poor appetite
Poor appetite
- MedGen UID: 68562
- Concept ID: C0232462
- Finding: Sign or Symptom
Abnormality of the digestive system
- Poor appetite
- Abnormality of the endocrine system
- Delayed puberty
Delayed puberty
- MedGen UID: 46203
- Concept ID: C0034012
- Finding: Pathologic Function
Abnormality of the endocrine system
- Delayed puberty
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Cortical thickening of long bone diaphyses
Cortical thickening of long bone diaphyses
- MedGen UID: 870679
- Concept ID: C4025133
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Diaphyseal sclerosis
Diaphyseal sclerosis
- MedGen UID: 1631208
- Concept ID: C4551853
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased bone mineral density
Increased bone mineral density
- MedGen UID: 10502
- Concept ID: C0029464
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscle weakness
Muscle weakness
- MedGen UID: 57735
- Concept ID: C0151786
- Finding: Finding
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Narrowing of medullary canal
Narrowing of medullary canal
- MedGen UID: 377067
- Concept ID: C1851612
- Finding: Finding
Abnormality of the musculoskeletal system
- Reduced subcutaneous adipose tissue
Reduced subcutaneous adipose tissue
- MedGen UID: 387876
- Concept ID: C1857657
- Finding: Finding
Abnormality of the musculoskeletal system
- Sclerosis of skull base
Sclerosis of skull base
- MedGen UID: 377095
- Concept ID: C1851714
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Cortical thickening of long bone diaphyses
- Abnormality of the nervous system
- Cranial nerve compression
Cranial nerve compression
- MedGen UID: 141743
- Concept ID: C0521670
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Easy fatigability
Easy fatigability
- MedGen UID: 373253
- Concept ID: C1837098
- Finding: Finding
Abnormality of the nervous system
- Headache
Headache
- MedGen UID: 9149
- Concept ID: C0018681
- Finding: Sign or Symptom
Abnormality of the nervous system
- Optic nerve compression
Optic nerve compression
- MedGen UID: 78765
- Concept ID: C0271344
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Out-toeing
Out-toeing
- MedGen UID: 1054697
- Concept ID: CN378405
- Finding: Finding
Abnormality of the nervous system
- Waddling gait
Waddling gait
- MedGen UID: 66667
- Concept ID: C0231712
- Finding: Finding
Abnormality of the nervous system
- Cranial nerve compression
- Constitutional symptom
- Limb pain
Limb pain
- MedGen UID: 10540
- Concept ID: C0030196
- Finding: Sign or Symptom
Constitutional symptom
- Lower limb pain
Lower limb pain
- MedGen UID: 6033
- Concept ID: C0023222
- Finding: Sign or Symptom
Constitutional symptom
- Limb pain
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Slender build
Slender build
- MedGen UID: 376828
- Concept ID: C1850573
- Finding: Finding
Growth abnormality
- Slender build
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