Ulnar mammary syndrome

Classification according to ICD-10
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 .

The disease are mutations in TBX3 - gene on chromosome 2 locus q24.21 basis.

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

The diagnosis is based on the clinical findings and can be confirmed by detecting the gene mutation.

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).

↑ ^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).