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Familial osteoarthropathy of the fingers

MedGen UID:
82674
Concept ID:
C0264081
Disease or Syndrome
Synonyms: THIEMANN DISEASE; Thiemann disease, familial form
SNOMED CT: Familial osteoarthropathy of the fingers (55166000); Thiemann's disease (55166000)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0008142
OMIM®: 165700
Orphanet: ORPHA3314

Definition

Thiemann disease is a rare disorder that is considered to be a form of avascular necrosis of the proximal interphalangeal joints of the fingers and toes. The clinical symptoms usually appear in adolescence (Kotevoglu-Senerdem et al., 2003). [from OMIM]

Clinical features

From HPO
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Broad phalanx
MedGen UID:
340809
Concept ID:
C1855185
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Avascular necrosis
MedGen UID:
10200
Concept ID:
C0027543
Disease or Syndrome
A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial osteoarthropathy of the fingers
Follow this link to review classifications for Familial osteoarthropathy of the fingers in Orphanet.

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