Rozin Syndrome

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Rozin syndrome is a very rare congenital disease with the main features camptodactyly , abnormalities of the eyes , scoliosis , flexion contracture and facial dysmorphism .

Synonyms are: English Rozin-Hertz-Goodman syndrome; Rozin-camptodactyly syndrome

The name refers to the first author or the authors of the first description from 1984 by the Israeli human geneticist and radiologist MM Rozin and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far only individual persons affected have been reported. The mode of inheritance and the cause are unknown.

Clinical manifestations

Clinical criteria are:

• Onset of illness as a newborn
• Skeletal abnormalities such as camptodactyly, scoliosis, flexion contractures
• Eye anomalies such as fibrosis of the medial rectus muscle , pronounced myopia , ptosis and exophthalmos
• Facial abnormalities such as asymmetry , prominent nose , small mouth , deep-set ears and hairline on the neck

literature

• JE García-Ortiz, G. Castañeda-Cisneros, MG López-Cardona, J. Sánchez-Corona, B. Patiño-García, CL García-González, Z. Nazará, N. Dávalos-Rodríguez, LX Rodríguez, D. García- Cruz: Camptodactyly, joint contractures, facial, and skeletal defects: Further delineation of the Rozin camptodactyly syndrome. In: American journal of medical genetics. Part A. Vol. 140, No. 11, June 2006, pp. 1245-1249, doi: 10.1002 / ajmg.a.31238 , PMID 16688750 .

Individual evidence

1. ↑ ^{a b c} Camptodactyly - joint contractures - facial skeletal defects. In: Orphanet (Rare Disease Database).
2. ↑ MM Rozin, M. Hertz, RM Goodman: A new syndrome with camptodactyly, joint contractures, facial anomalies, and skeletal defects: a case report and review of syndromes with camptodactyly. In: Clinical genetics. Vol. 26, No. 4, October 1984, pp. 342-355, PMID 6437708 .
3. ↑ Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Musclo of Eye.  In: Online Mendelian Inheritance in Man . (English)

Web links

• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !