Armfield Syndrome

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

The Armfield syndrome is a very rare congenital to the non-syndromic X-linked mental retardation scoring disease with the main features of mental retardation , short stature , epilepsy and acromicria .

The name refers to the first author of the first description from 1999 by the US doctors Kim Armfield, Retecher Nelson, Herbert A. Lubs and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far a family has been described. Inheritance is X-linked - recessive .

root cause

The disease is based on mutations on the X chromosome locus q28.

Clinical manifestations

Clinical criteria are:

  • mental disability
  • Short stature
  • cerebral cramps
  • Acromicria (small hands and feet)

There are also glaucoma , cataracts or cleft palates .

Individual evidence

  1. ↑ a b c Mental retardation, X-linked, Armfield type. In: Orphanet (Rare Disease Database).
  2. ↑ K. Armfield, R. Nelson, HA Lubs, B. Häne, RJ Schroer, F. Arena, CE Schwartz, RE Stevenson: X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28. In: American journal of medical genetics. Vol. 85, No. 3, July 1999, pp. 236-242, PMID 10398235 .
  3. ^ Mental retardation syndrome, X-linked, Armfield type.  In: Online Mendelian Inheritance in Man . (English)

Web links