Scholte 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 Scholte syndrome is a very rare congenital disease with the main features of Mental Retardation , balding , patellar luxation and acromicria .

The syndrome should not be confused with Cassidy-Scholte syndrome ( carcinoid ).

Synonyms are: Scholte-Begeer-van Essen syndrome; SHLTS

The name refers to the first or the authors of the first description from 1991 by the Dutch pediatrician FA Scholte (and colleagues).

distribution

The frequency is given as less than 1 in 1,000,000, so far three unrelated sufferers have been reported. Inheritance is X-linked recessive .

Clinical manifestations

Clinical criteria are:

  • Onset of illness in newborns or toddlers
  • severe intellectual disability
  • Patellar dislocations
  • Acromicry
  • Hypogonadism
  • Facial dysmorphism , especially of the midface
  • premature baldness on the forehead and temples

literature

  • AM Vandersteen, RC Hennekam: Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity. In: European journal of medical genetics. Vol. 53, No. 5, 2010 Sep-Oct, pp. 314-317, doi: 10.1016 / j.ejmg.2010.07.004 , PMID 20624501 .

Individual evidence

  1. ↑ a b c Mental retardation - baldness - patellar luxation - acromicria. In: Orphanet (Rare Disease Database).
  2. ↑ FA Scholte, JH Begeer, AJ van Essen: Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism. In: Journal of medical genetics. Vol. 28, No. 2, February 1991, pp. 140-142, PMID 2002488 , PMC 1016787 (free full text).

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