Multiple symmetric lipomatosis
- Synonyms
- Benign symmetrical lipomatosis; Launois-Bensaude syndrome; Lipodystrophy, cephalothoracic; Lipomatosis familial benign cervical; Madelung disease; Madelung's disease
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Mitochondrial inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Clinical features
Help- Abnormality of head or neck
- Macroglossia
Macroglossia
- MedGen UID: 44236
- Concept ID: C0024421
- Finding: Disease or Syndrome
Abnormality of head or neck
- Macroglossia
- Abnormality of limbs
- Clubfoot
Clubfoot
- MedGen UID: 3130
- Concept ID: C0009081
- Finding: Congenital Abnormality
Abnormality of limbs
- Clubfoot
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter
- MedGen UID: 336019
- Concept ID: C1843700
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Lipodystrophy
Lipodystrophy
- MedGen UID: 6111
- Concept ID: C0023787
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Muscular atrophy
Muscular atrophy
- MedGen UID: 892680
- Concept ID: C0541794
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Progressive muscle weakness
Progressive muscle weakness
- MedGen UID: 68704
- Concept ID: C0240421
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased variability in muscle fiber diameter
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal neuropathy
Peripheral axonal neuropathy
- MedGen UID: 266071
- Concept ID: C1263857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Areflexia
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Neoplasm
- Multiple lipomas
Multiple lipomas
- MedGen UID: 677074
- Concept ID: C0745730
- Finding: Finding
Neoplasm
- Multiple lipomas
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