Ulnar mammary syndrome
Classification according to ICD-10 | |
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Q71.8 | Other reduction defects of the upper extremity (s) |
ICD-10 online (WHO version 2019) |
The ulnar mammary syndrome (UMS) is a very rare congenital disease with the three main characteristics of ulnar-sided radiation defects, hypo- to aplasia of the mammary glands and scent glands of the armpit as well as puberty tarda .
Synonyms are: Schinzel syndrome; Ulnar mammary syndrome; Ulna-Mammary Syndrome Pallister Type; English Pallister's syndrome
The first description comes from 1973 by the US human geneticist Albert AG Schinzel and the Swiss pediatrician Andrea Prader as a personal communication to Victor Almon McKusick , published in the 4th edition in 1975 in the McKusick catalog OMIM .
Separately, the American pediatrician and human geneticist Philip David Pallister published a report in 1976.
The name "Schinzel Syndrome" was proposed in 1978.
The syndrome is not to be confused with Schinzel-Giedion syndrome .
distribution
The frequency is unknown, about 150 people have been reported to be affected. The inheritance is autosomal dominant .
root cause
The disease are mutations in TBX3 - gene on chromosome 2 locus q24.21 basis.
Clinical manifestations
Clinical criteria are:
- ulnar ray defects with hypoplasia of the terminal phalanges of the little fingers up to the absence of 3 ulnar rays, also combined with polydactyly , often asymmetrical
- fibular ray defects with shortening of terminal phalanges, stiffening of the toe joints of the 5th and 4th toes
- more rarely , defects of the extremities isolated further proximally
- Hypo- / aplasia of the mammary gland and nipple
- Hypoplasia of the apocrine glands especially of the armpit , decreased body odor
- decreased body hair in normal pubic hair
- in the male sex hypoplasia of the genitals , obesity , delayed and decreased puberty , reduced fertility and libido
- Tooth anomalies such as ectopic to missing canines
Rarely, anal atresia / anal stenosis, inguinal hernia , Larynxatresie / Laryngostenosis, Hymenalatresie , pyloric stenosis , hypodontia , heart defects , kidney malformations added.
diagnosis
The diagnosis is based on the clinical findings and can be confirmed by detecting the gene mutation.
literature
- E. Galazzi, P. Duminuco, M. Moro, F. Guizzardi, N. Marazzi, A. Sartorio, S. Avignone, M. Bonomi, L. Persani, MT Bonati: Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in ulnar Mammary syndrome. In: Endocrine Connections. Volume 7, number 12, December 2018, pp. 1432–1441, doi: 10.1530 / EC-18-0486 , PMID 30550377 , PMC 6300862 (free full text).
- J. Loyal, DR Laub: Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. In: Eplasty. Volume 14, 2014, p. Ic35, PMID 25328580 , PMC 4183216 (free full text).
Individual evidence
- ↑ a b c 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 c Ulna-Breast Syndrome. In: Orphanet (Rare Disease Database).
- ↑ Who named it
- ↑ a b Ulnar-mammary syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ PD Pallister, J. Herrmann, JM Opitz: Studies of malformation syndromes in man XXXXII: a pleiotropic dominant mutation affecting skeletal, sexual and apocrine-mammary development. In: Birth defects original article series. Volume 12, Number 5, 1976, pp. 247-254, PMID 953230 .
- ^ Who named it Pallister's syndrome
- ^ SA Temtamy, VA, McKusick: The Genetics of Hand Malformations. New York: National Foundation-March of Dimes (Ed.) 1978.
- ↑ P. Kumar P, S. Franklin, U. Emechebe, H. Hu, B. Moore, C. Lehman, M. Yandell, AM Moon: TBX3 regulates splicing in vivo: a novel molecular mechanism for ulnar-mammary syndrome. In: PLoS genetics. Volume 10, number 3, March 2014, p. E1004247, doi: 10.1371 / journal.pgen.1004247 , PMID 24675841 , PMC 3967948 (free full text).