Lenz-Majewski syndrome

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Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The Lenz-Majewski syndrome or hyperostotic short stature type Lenz-Majewski is a very rare congenital disease with a combination of short stature, typical face, lax skin and progressive sclerosis of the bone ( osteosclerosis ).

Synonyms are:

  • Braham-Lenz syndrome (after the first description still as Camurati-Engelmann syndrome by RL Braham 1969.)
  • Lenz-Majewski hyperostotic dwarfism

The name refers to the first delimitation from 1974 by the German human geneticist Widukind Lenz and the German pediatrician and human geneticist Frank Majewski .

distribution

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

root cause

The disease is based on mutations in the PTDSS1 gene at location 8q22.1.

Clinical manifestations

Clinical criteria are:

  • Manifestation in early infancy with failure to thrive
  • Pre-aged "progeroids" appearance
  • Wide cranial sutures and fontanels
  • Craniofacial dysmorphia with a prominent broad forehead, hypertelorism , misplaced tear ducts, large flaccid auricles, tooth enamel defects
  • Kutis laxa, thin withered skin with increased vein markings, hernias, cryptorchidism, possibly hypospadias
  • Mental retardation
  • Severe short stature
  • Membranous syndactyly of the second to fifth fingers
  • Brachydactyly

diagnosis

In addition to the clinical picture, there are typical criteria in the X-ray image :

  • Progressive osteosclerosis of the skull bones and vertebrae, broad ribs and collarbones
  • Diaphyseal sclerosis with widening of the long bones
  • Middle phalangeal hypoplasia .

Differential diagnosis

The following are to be distinguished from the differential diagnosis:

literature

  • M. Robinow, AJ Johanson, TH Smith: The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. In: The Journal of pediatrics. Vol. 91, No. 3, September 1977, ISSN  0022-3476 , pp. 417-421, PMID 894410 .
  • RJ Gorlin, CB Whitley: Lenz-Majewski syndrome. In: Radiology. Vol. 149, No. 1, October 1983, ISSN  0033-8419 , pp. 129-131, doi : 10.1148 / radiology.149.1.6611917 , PMID 6611917 .
  • SB Sousa, D. Jenkins, E. Chanudet, G. Tasseva, M. Ishida, G. Anderson, J. Docker, M. Ryten, J. Sa, JM Saraiva, A. Barnicoat, R. Scott, A. Calder, D. Wattanasirichaigoon, K. Chrzanowska, M. Simandlová, L. Van Maldergem, P. Stanier, PL Beales, JE Vance, GE Moore: Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome . In: Nature genetics. Vol. 46, No. 1, January 2014, ISSN  1546-1718 , pp. 70-76, doi : 10.1038 / ng.2829 , PMID 24241535 .

Individual evidence

  1. ↑ 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
  2. ^ RL Braham: Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann's syndrome). Report of a case. In: Oral surgery, oral medicine, and oral pathology. Vol. 27, No. 1, January 1969, ISSN  0030-4220 , pp. 20-26, PMID 5249155 .
  3. ↑ Who named it
  4. ^ WD Lenz, F. Majewski: A generalized disorders of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis. In: Birth defects original article series. Vol. 10, No. 12, 1974, ISSN  0547-6844 , pp. 133-136, PMID 4376705 .
  5. ↑ a b c short stature, hyperostotic, Lenz-Majewski type. In: Orphanet (Rare Disease Database).
  6. ↑ Lenz-Majewski syndrome.  In: Online Mendelian Inheritance in Man . (English)