Rutherfurd Syndrome

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

The Rutherfurd syndrome is a very rare congenital disease with the main features gingival hypertrophy , tooth retention and dystrophy of the cornea .

Synonyms are: gingival hypertrophy - corneal dystrophy; Rutherfurd Syndrome; Corneal Dystrophy With Gum Hypertrophy; Gingival Hypertrophy With Corneal Dystrophy

The name refers to the first authors of the first description from 1931 by the English doctor Margaret E. Rutherfurd.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

congenital corneal opacity ( corneal dystrophy )
Blindness around the age of 50
fibrotic gingival hypertrophy
Hypodontia

Differential diagnosis

Different forms of hereditary gingival fibromatosis such as Jones syndrome and Zimmermann-Laband syndrome are to be distinguished .

literature

K. Gawron, KL Bartyzel, J. Potempa, M. Chomyszyn-Gajewska: Gingival fibromatosis: clinical, molecular and therapeutic issues. In: Orphanet Journal of Rare Diseases Vol. 11, No. 9, 2016, doi: 10.1186 / s13023-016-0395-1
JE Higgs, J. Clayton-Smith: Rutherfurd syndrome revisited: intellectual disability is not a feature. In: Clinical dysmorphology. Volume 24, Number 3, July 2015, pp. 125-127, doi: 10.1097 / MCD.0000000000000081 , PMID 25714557 .
IB Houston, N. Shotts: Rutherfurd's Syndrome: A Familial Oculo-Dental Disorder. In: Acta Paediatrica. Vol. 55, 1966, p. 233, doi: 10.1111 / j.1651-2227.1966.tb15231.x

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 .
↑ ^a ^b Oculo-dental syndrome type Rutherfurd. In: Orphanet (Rare Disease Database).
^ ME Rutherfurd: Three generations of inherited dental defect. In: British medical journal. Vol. 2, No. 3678, July 1931, pp. 9-11, PMID 20776268 , PMC 2314113 (free full text).
↑ Rutherfurd syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ Poulami Majumder, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, Subrata Kumar Dey: The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis. In: Case Reports in Dentistry. 2013, 2013, p. 1, doi: 10.1155 / 2013/432864

[Leiber-1] 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 .

[Orpha-2] Oculo-dental syndrome type Rutherfurd. In: Orphanet (Rare Disease Database).

[3] ME Rutherfurd: Three generations of inherited dental defect. In: British medical journal. Vol. 2, No. 3678, July 1931, pp. 9-11, PMID 20776268 , PMC 2314113 (free full text).

[4] Rutherfurd syndrome. In: Online Mendelian Inheritance in Man . (English)

[5] Poulami Majumder, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, Subrata Kumar Dey: The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis. In: Case Reports in Dentistry. 2013, 2013, p. 1, doi: 10.1155 / 2013/432864