Rosselli-Gulienetti syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Rosselli Gulienetti syndrome is a very rare congenital sub-form of ectodermal dysplasia with the main features of cleft lip and palate , ectrodactyly (cleft hand and split foot), and mental retardation .
The name refers to the first authors of the first description from 1961 by the Italian doctors D. Rosselli and R. Gulienetti .
Spread and cause
Distribution and cause are not yet known.
Clinical manifestations
Clinical criteria are:
- clinically indistinguishable from the EEC syndrome
- Signs of ectodermal dysplasia: anhidrosis , hypertrichosis , oligodentia, enamel defects, radial hypoplasia , alopecia , nipple hypoplasia
- Cleft lip and palate
- Cleft hand, cleft foot, syndactyly
- Photophobia
- Pterygia in the hollow of the knee
- Malformations of the urinary and sexual apparatus
Differential diagnosis
The EEC syndrome and the Zlotogora-Ogur syndrome are to be distinguished .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ^ D. Rosselli, Gulienetti: Ectodermal dysplasia. In: British journal of plastic surgery. Vol. 14, October 1961, pp. 190-204, PMID 14494246 .
- ^ Rosselli-Gulienetti syndrome. In: Online Mendelian Inheritance in Man . (English)
