Robinow syndrome

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Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
- Robinow (Silverman-Smith) syndrome
ICD-10 online (WHO version 2019)

The Robinow syndrome is a mostly autosomal - dominant , rare autosomal recessive inherited malformation syndrome , which in a frequency of 1: occurs and 500,000 by a large skull with a small face (like a fetus ), short stature and a mesomelic dysplasia of the forearms and by an in boys micropenis characterized

Synonyms are: Robinow-Silverman-Smith syndrome , Robinow dwarfism , fetal face , fetal face syndrome .

It was first described in 1969 by the German-American human geneticist Meinhard Robinow (* 1909), together with the American children's radiologist Frederic Noah Silverman (1914-2006) and Hugo D. Smith in the American Journal of Diseases of Children . In 2002, a total of over 100 case reports were known in the medical literature.

In the ICD-10 , it is classified as Q87.1 under "Congenital malformation syndromes that are predominantly associated with short stature".

Individual evidence

  1. ↑ ROBINOW SYNDROME, AUTOSOMAL DOMINANT.  In: Online Mendelian Inheritance in Man . (English)
  2. ↑ ROBINOW SYNDROME, AUTOSOMAL RECESSIVE.  In: Online Mendelian Inheritance in Man . (English)
  3. ^ Robinow syndrome. In: Orphanet (Rare Disease Database).
  4. ↑ a b M. Patton, A. Afzal: Robinow syndrome . In: J Med Genet . tape 39 , no. 5 , 2002, p. 305-310 , PMID 12011143 . Full text