Multicentric carpo-tarsal osteolysis with or without nephropathy
- Synonyms
- Carnevale Canun Mendoza syndrome; MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT; Multicentric Osteolysis of Carpal Bones and Nephropathy; Multicentric osteolysis nephropathy; OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (17 available)
Clinical features
Help- Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Triangular face
- Abnormality of limbs
- Ankle swelling
Ankle swelling
- MedGen UID: 65906
- Concept ID: C0235439
- Finding: Pathologic Function
Abnormality of limbs
- Carpal osteolysis
Carpal osteolysis
- MedGen UID: 318954
- Concept ID: C1833734
- Finding: Pathologic Function
Abnormality of limbs
- Metacarpal osteolysis
Metacarpal osteolysis
- MedGen UID: 343165
- Concept ID: C1854610
- Finding: Finding
Abnormality of limbs
- Metatarsal osteolysis
Metatarsal osteolysis
- MedGen UID: 344327
- Concept ID: C1854614
- Finding: Finding
Abnormality of limbs
- Osteolysis involving tarsal bones
Osteolysis involving tarsal bones
- MedGen UID: 322262
- Concept ID: C1833735
- Finding: Pathologic Function
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Ulnar deviation of the hand
Ulnar deviation of the hand
- MedGen UID: 66031
- Concept ID: C0241521
- Finding: Finding
Abnormality of limbs
- Ulnar deviation of the hand or of fingers of the hand
Ulnar deviation of the hand or of fingers of the hand
- MedGen UID: 892857
- Concept ID: C4048199
- Finding: Finding
Abnormality of limbs
- Wrist swelling
Wrist swelling
- MedGen UID: 116125
- Concept ID: C0241760
- Finding: Finding
Abnormality of limbs
- Ankle swelling
- Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the eye
- Corneal opacity
Corneal opacity
- MedGen UID: 40485
- Concept ID: C0010038
- Finding: Finding
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Corneal opacity
- Abnormality of the genitourinary system
- Bilateral renal atrophy
Bilateral renal atrophy
- MedGen UID: 868441
- Concept ID: C4022835
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Renal insufficiency
Renal insufficiency
- MedGen UID: 332529
- Concept ID: C1565489
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Bilateral renal atrophy
- Abnormality of the musculoskeletal system
- Bilateral elbow dislocations
Bilateral elbow dislocations
- MedGen UID: 480059
- Concept ID: C3278429
- Finding: Finding
Abnormality of the musculoskeletal system
- Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
- MedGen UID: 68625
- Concept ID: C0235833
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypoplasia of the maxilla
Hypoplasia of the maxilla
- MedGen UID: 66804
- Concept ID: C0240310
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Bilateral elbow dislocations
- Abnormality of the nervous system
- Inability to walk
Inability to walk
- MedGen UID: 107860
- Concept ID: C0560046
- Finding: Finding
Abnormality of the nervous system
- Inability to walk
- Constitutional symptom
- Ankle pain
Ankle pain
- MedGen UID: 116068
- Concept ID: C0238656
- Finding: Sign or Symptom
Constitutional symptom
- Arthralgia
Arthralgia
- MedGen UID: 13917
- Concept ID: C0003862
- Finding: Sign or Symptom
Constitutional symptom
- Wrist pain
Wrist pain
- MedGen UID: 66384
- Concept ID: C0221785
- Finding: Sign or Symptom
Constitutional symptom
- Ankle pain
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