Preferred Label : Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Singh et al. (2003) described sisters who presented in their early teenage years with
bilateral ankle, knee, and later, wrist pain. Radiologic examination revealed bilateral
osteolysis of tali, scaphoids, and patella. Bone loss, sclerosis, and irregularity
were seen in the affected areas. Short fourth metacarpals were also found. Synovial
ankle biopsies in both sisters showed evidence of chronic inflammatory changes with
infiltration of plasma cells and lymphocytes consistent with chronic synovitis. There
was no renal involvement, and excretion of amino acids, mucopolysaccharides, and oligosaccharides
was normal. Both parents and a younger brother had no clinical or radiologic evidence
of the disease. There was no history of consanguinity. Singh et al. (2003) suggested
autosomal recessive inheritance. *FIELD* RF 1. Singh, J. A.; Williams, C. B.; McAlister,
W. H.: Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in
sisters: a new syndrome? Am. J. Med. Genet. 121A: 118-125, 2003. *FIELD* CS Autosomal
recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 609655;
Origin ID : 609655;
UMLS CUI : C1864784;
Currated CISMeF NLP mapping
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
