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Enlarged proximal interphalangeal joints

MedGen UID:
348334
Concept ID:
C1861350
Finding
Synonym: Enlarged innermost hinge joint
 
HPO: HP:0006185

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEnlarged proximal interphalangeal joints

Conditions with this feature

Syndactyly type 5
MedGen UID:
350010
Concept ID:
C1861348
Congenital Abnormality
A very rare congenital limb malformation with characteristics of postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits. So far, less than ten reports have been described in the literature. Soft tissue syndactyly (involving the third and fourth fingers and the second and third toes) may be present. The locus associated with SD5 maps to 2q31-q32. Mutations in the HOXD13 gene may be causative. The condition is inherited as an autosomal dominant trait.
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).

Professional guidelines

PubMed

Altman R, Alarcón G, Appelrouth D, Bloch D, Borenstein D, Brandt K, Brown C, Cooke TD, Daniel W, Gray R
Arthritis Rheum 1990 Nov;33(11):1601-10. doi: 10.1002/art.1780331101. PMID: 2242058

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