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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:	Osteochondrosis of phalangeal epiphyses (55166000); Aseptic necrosis of phalangeal epiphyses (55166000); Thiemann disease familial form (55166000); Familial osteoarthropathy of fingers (55166000); Thiemann syndrome (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. See: This record Not genetically inherited (Orphanet)

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.

See: Feature record | Search on this feature

Broad phalanx

MedGen UID:: 340809
•Concept ID:: C1855185
•: Finding

Increased side-to-side width of one or more phalanges of the fingers or toes.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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Abnormality of limbs
- Broad phalanx
- Short phalanx of finger
Abnormality of the musculoskeletal system
- Avascular necrosis

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial osteoarthropathy of the fingers

Disease
- Disorder by Site
  - Connective and Soft Tissue Disorder
    - Musculoskeletal system disorder
      - Disorder of bone
        Osteochondrosis
        Familial osteoarthropathy of the fingers

Follow this link to review classifications for Familial osteoarthropathy of the fingers in Orphanet.

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Coriell Institute for Medical Research

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