Aase-Smith Syndrome

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Classification according to ICD-10
Q87.8 Other congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Aase-Smith syndrome , also Aase-Smith syndrome type I called, is an extremely rare inherited disorder .

Disease picture and frequency

Aase-Smith syndrome is characterized by the following congenital malformations:

The patients have very thin fingers, usually without knuckles or only very weakly developed flexion furrows . Among other things, this means that those affected cannot close their hands completely into a fist. The symptoms of the hand are important to distinguish it from Gordon syndrome . Common to both syndromes is arthrogryposis multiplex congenita (AMC) and the cleft palate. Deformed ears, ptosis , restricted jaw mobility , heart defects and clubfoot can also occur.

Aase-Smith syndrome is an extremely rare hereditary disease. Fewer than 20 cases of this syndrome have been described in the literature.

genetics

Due to the extremely low frequency of the syndrome, very little is known about its genetics . The inheritance is presumably autosomal - dominant . It is not yet known which chromosome or which gene or genes are affected.

therapy

There is no therapy specifically designed for Aase-Smith syndrome . Treatment is symptomatic, for example by surgical corrections.

Initial description

Aase-Smith syndrome was first described in 1968 by the two US pediatricians and morphologists Jon Morton Aase and David W. Smith in a family man and his two children. One of the children was born still , the other only survived two months.

Individual evidence

  1. ↑ JM Aase, DW Smith: Dysmorphogenesis of joints, brain and palate: a new dominantly inherited syndrome. In: J. Pediat. 73, 1968, pp. 606-609. PMID 5678002

literature

  • AM Patton, et al. a .: The Aase-Smith syndrome. In: Clin. Genet. 28, 1985, pp. 521-525. PMID 4075562
  • K. Becker, M. Splitt: A family with distal arthrogryposis and cleft palate: possible overlap between Gordon syndrome and Aase-Smith syndrome. In: Clin. Dysmorph. 10, 2001, pp. 41-45. PMID 11152147
  • M. D'Avanzo et al. a .: Aase-Smith syndrome: report of a new case. In: Br J Haematol 70, 1988, pp. 125-126. PMID 3179220
  • M. D'Avanzo et al. a .: Favorable effect of splenectomy over a five year follow-up in a patient with Aase-Smith syndrome. In: Haematologica 87, 2002, ECR34. PMID 12414360

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