Majewski syndrome

Classification according to ICD-10
Q77.2	Short rib polydactyly syndromes
ICD-10 online (WHO version 2019)

The Majewski syndrome or short rib polydactyly syndrome type Majewski is a special form of congenital hereditary osteochondrodysplasias with a lethal course and belongs to the short rib polydactyly syndromes characterized by short ribs and underdeveloped lungs.

Synonyms are:

Majewski's polydactyly syndrome
Majewski's short rib-polydactyly syndrome
Short-rib Thoracic Dysplasia 6 with or without Polydactyly; SRTD6
Short-rib Polydactyly Syndrome, Type II; SRPS, Type II
Short-rib Polydactyly Syndrome, Type IIA; SRPS2aA
Polydactyly with neonatal chondrodystrophy, Type II

It was first described in 1971 by the German pediatrician and human geneticist Frank Majewski .

The syndrome should not be confused with the Lenz-Majewski syndrome (hyperostotic short stature type Lenz-Majewski) or the Mohr-Majewski syndrome (orofazio-digital syndrome type IV).

distribution

The frequency of this group of diseases is not known; the inheritance is autosomal - recessive .

Clinical manifestations

Common features of all short rib polydactyly syndromes are:

Short ribs with thoracic - hypoplasia , pulmonary and respiratory failure
Shortening and dysplasia of long bones, often polydactyly

This type often has a relatively large head, sunken nasal roots, respiratory insufficiency , cleft lip and palate , teeth already at birth, hypoplasia of the epiglottis and larynx, vaginal atresia , micropenis , short malrotated intestine, arhinencephaly .

diagnosis

The x-ray shows short ribs, disproportionately short and oval-shaped tibia , in contrast to Beemer-Langer syndrome, not well developed, otherwise well-defined bones. To differentiate the Saldino-Noonan syndrome, normal shape of the iliac blade , no metaphyseal spur on the long tubular bones, premature ossification of the proximal femoral and humeral epiphyses. Polydactyly on the hand and foot.

A diagnosis by sonography in the womb is possible.

literature

J. Spranger, P. Maroteaux: The lethal osteochondrodysplasias. In: Advances in human genetics. Vol. 19, 1990, pp. 1-103, 331, ISSN 0065-275X . PMID 2193487 . (Review).
JW Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .
G. Tonni, M. Palmisano, A. Ventura, G. Grisolia, AM Baffico, P. Pattacini, BM Paola, C. De Felice: Majewski syndrome (short-rib polydactyly syndrome type II): prenatal diagnosis and histological features of chondral growth plate, liver and kidneys. Case report and literature review. In: Congenital anomalies. [electronic publication before printing] May 2014, ISSN 1741-4520 . doi : 10.1111 / cga.12066 . PMID 24854045 .
PS Jutur, CP Kumar, S. Goroshi: Case report: Short rib polydactyly syndrome - type 2 (Majewski syndrome). In: The Indian journal of radiology & imaging. Vol. 20, No. 2, May 2010, pp. 138-142, ISSN 1998-3808 . doi : 10.4103 / 0971-3026.63044 . PMID 20607029 . PMC 2890924 (free full text).

Individual evidence

↑ ^a ^b ^c ^d 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
↑ Who named it
↑ Majewski syndrome. In: Online Mendelian Inheritance in Man . (English)
^ F. Majewski, RA Pfeiffer, W. Lenz, R. Müller, G. Feil, R. Seiler: Polysyndactyly, shortened limbs and genital malformations: characteristics of an independent syndrome? In: Journal of Pediatrics. Vol. 111, No. 2, 1971, pp. 118-138, ISSN 0044-2917 . PMID 4331366 .
↑ Majewski syndrome. In: Orphanet (Rare Disease Database).
↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996 vol. 1, p. 316, ISBN 3-540-60224-0 .
^ S. Sridhar, R. Kishore, N. Thomas, AK Jana: Short rib polydactyly syndrome-Type I. In: Indian journal of pediatrics. Vol. 71, No. 4, April 2004, pp. 359-361, ISSN 0019-5456 . PMID 15107523 .
↑ S. Sirichotiyakul, T. Tongsong, C. Wanapirak, P. Chanprapaph: Prenatal sonographic diagnosis of Majewski syndrome. In: Journal of clinical ultrasound: JCU. Vol. 30, No. 5, June 2002, pp. 303-307, ISSN 0091-2751 . doi: 10.1002 / jcu.10066 . PMID 12116111 .

[Leiber-1] 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

[2] Who named it

[3] Majewski syndrome. In: Online Mendelian Inheritance in Man . (English)

[4] F. Majewski, RA Pfeiffer, W. Lenz, R. Müller, G. Feil, R. Seiler: Polysyndactyly, shortened limbs and genital malformations: characteristics of an independent syndrome? In: Journal of Pediatrics. Vol. 111, No. 2, 1971, pp. 118-138, ISSN 0044-2917 . PMID 4331366 .

[5] Majewski syndrome. In: Orphanet (Rare Disease Database).

[6] W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996 vol. 1, p. 316, ISBN 3-540-60224-0 .

[7] S. Sridhar, R. Kishore, N. Thomas, AK Jana: Short rib polydactyly syndrome-Type I. In: Indian journal of pediatrics. Vol. 71, No. 4, April 2004, pp. 359-361, ISSN 0019-5456 . PMID 15107523 .

[8] S. Sirichotiyakul, T. Tongsong, C. Wanapirak, P. Chanprapaph: Prenatal sonographic diagnosis of Majewski syndrome. In: Journal of clinical ultrasound: JCU. Vol. 30, No. 5, June 2002, pp. 303-307, ISSN 0091-2751 . doi: 10.1002 / jcu.10066 . PMID 12116111 .