Juberg-Marsidi syndrome
The Smith-Fineman-Myers syndrome is a hereditary Retardierungsyndrom with Mikrogenitalismus and deafness.
Synonyms are:
- Smith – Fineman – Myers Syndrome (SFMS1)
- X-linked mental retardation-hypotonic facies syndrome I (MRXHF1)
- Carpenter-Waziri Syndrome
- Chudley – Lowry Syndrome
- SFMS
- Holmes-Gang Syndrome
The name goes back to the first description in 1980 by the American paediatricians Richard C. Jubert and I. Marsidi .
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is x-linked - recessive .
root cause
The disease is caused by mutations in the ATRX gene at the location (Xq13.3). An XNP mutation has also been described.
Clinical manifestations
Criteria are:
- Severe mental retardation
- Growth disturbance already beginning in the womb
- Deafness or hearing loss
- Mikrogenitalismus with penis - scrotum - hypoplasia and cryptorchidism
- Facial abnormalities such as narrow eyelids, epicanthus , saddle nose and auricular dysplasia
- Camptodactyly and clinodactyly
literature
- P. Saugier-Veber, V. Abadie, A. Moncla, M. Mathieu, C. Piussan, C. Turleau, JF Mattei, A. Munnich, S. Lyonnet: The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosomes (Xq12-q21). In: American Journal of Human Genetics . Vol. 52, No. 6, June 1993, pp. 1040-1045, ISSN 0002-9297 . PMID 8503439 . PMC 1682258 (free full text).
Individual evidence
- ^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
- ↑ Juberg-Marsidi syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ RC Juberg, I. Marsidi: A new form of X-linked mental retardation with growth retardation, deafness, and microgenitalism. In: American Journal of Human Genetics . Vol. 32, No. 5, September 1980, pp. 714-722, ISSN 0002-9297 . PMID 6107045 . PMC 1686104 (free full text).
- ↑ a b Smith-Fineman-Myers syndrome. In: Orphanet (Rare Disease Database).
- Jump up ↑ L. Villard, J. Gecz, JF Mattéi, M. Fontés, P. Saugier-Veber, A. Munnich, S. Lyonnet: XNP mutation in a large family with Juberg-Marsidi syndrome. In: Nature genetics. Vol. 12, No. 4, April 1996, pp. 359-360, ISSN 1061-4036 . doi : 10.1038 / ng0496-359 . PMID 8630485 .
