Sheldon Hall Syndrome

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Classification according to ICD-10
Q68.8 Other specified congenital musculoskeletal deformities
ICD-10 online (WHO version 2019)

The Sheldon-Hall syndrome is a very rare congenital malformation syndrome with the main features of joint contractures , facial abnormalities such as high palate and microstomia . It is considered a variant of Freeman-Sheldon syndrome .

Synonyms are: arthrogryposis, distal, type 2B; Freeman-Sheldon syndrome (variant)

The demarcation from Freeman-Sheldon syndrome was made in 1997 by the US human geneticist P. A. Krakowiak and colleagues.

The naming refers to the American human geneticists J. H. Sheldon and Judith G. Hall.

distribution

The frequency is not known; as far as this has been clarified, inheritance is autosomal dominant . Fewer than 100 patients have been reported to date.

root cause

The disease are mutations in TNNI2 - gene or TNNT3 gene in the chromosome 11 locus p15.5, in TPM2 gene in chromosome 9 3/13 or MYH3 gene in chromosome 17 based P13.1.

Clinical manifestations

Clinical criteria are:

diagnosis

Diagnosis is based on clinical findings. A prenatal diagnosis using fine ultrasound is possible.

Differential diagnosis

A distinction must be made between Freeman-Sheldon syndrome and other forms of arthrogryposis .

literature

  • Reha M Toydemir, Michael J Bamshad: Sheldon-Hall syndrome. In: Orphanet Journal of Rare Diseases , Volume 4, 2009, p. 11, doi: 10.1186 / 1750-1172-4-11

Web links

Individual evidence

  1. ↑ a b c d Sheldon-Hall syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ PA Krakowiak, JR O'Quinn, JF Bohnsack, WS Watkins, JC Carey, LB Jorde, M. Bamshad: A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. In: American Journal of Human Genetics , Vol. 60, No. 2, February 1997, pp. 426-432, PMID 9012416 , PMC 1712403 (free full text).
  3. ↑ Arthrogryposis, distal, type 2B.  In: Online Mendelian Inheritance in Man . (English)