Geleophysical short stature

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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 Geleophysische short stature (of ancient Greek γέλως Gelos "laughter" and φύσις physis "the shape, form") is a very rare congenital skeletal dysplasia with the main features short stature , facial dysmorphia with "good-humored expression" and skeletal alterations ( acromicria ) of the hands and feet .

Synonyms are: geleophysical dysplasia; Geleophysical dwarfism

The name was suggested by the authors of a description from the year 1971 by Jürgen Spranger and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 50 people have been reported. The inheritance is autosomal dominant (type 2) or recessive (type 1).

root cause

Depending on the underlying mutation , the following types can be distinguished:

  • Type 1 with mutations in ADAMTSL2 - gene on chromosome 9 locus q34.2, which encodes a glycoprotein (Disintegrin And Metalloproteinase with Thrombospondin repeats- like 2).
  • Type 2 with mutations in the FBN1 - gene on chromosome 15 locus q21.1 encoding fibrillin -1.

Another causative mutation was in LTBP3 - gene demonstrated that as a cause of Brachyolmia and Amelogenesis imperfecta applies.

Clinical manifestations

Clinical criteria are:

  • acromicias recognizable at birth
  • relatively proportioned short stature
  • reduced joint motility
  • Round, full, wrinkle-free face with a short turned-up nose, slight mongoloid eyelid axis, flat upper lip, narrow red lips, face expression looking happy
  • firm, hard to move skin
  • Progressive insufficiency of the heart valves due to deposits as in lysosomal storage disease , often leading to early death
  • recurrent respiratory infections
  • Ear infections, middle ear hearing loss
  • Hepatosplenomegaly
  • Eye changes

diagnosis

The x-ray shows delayed bone age , shortened, distended phalanges, cone epiphyses , and sometimes flattened proximal femoral epiphyses .

Differential diagnosis

Must be distinguished are Weill-Marchesani syndrome and Akromikrische dysplasia .

forecast

The involvement of the heart, the respiratory tract including the lungs lead to death in type 1 in around a third of those affected in the first five years of life.

history

It was first described in 1960 by PW Vanace, S. Friedman and BM Wagner.

literature

  • K. Hasegawa, C. Numakura, H. Tanaka, M. Furujo, T. Kubo, Y. Higuchi, M. Yamashita, H. Tsukahara: Three cases of Japanese acromicric / geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features. In: Journal of pediatric endocrinology & metabolism: JPEM. Vol. 30, No. 1, January 2017, pp. 117–121, doi: 10.1515 / jpem-2016-0258 , PMID 27935852 .
  • L. Mackenroth, A. Rump, P. Lorenz, E. Schröck, A. Tzschach: Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I. In: Clinical dysmorphology. Vol. 25, No. 3, July 2016, pp. 106-109, doi: 10.1097 / MCD.0000000000000124 , PMID 27057656 .

Individual evidence

  1. ↑ 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 .
  2. ↑ a b short stature, more geophysical. In: Orphanet (Rare Disease Database).
  3. ^ JW Spranger, EF Gilbert, GA Tuffli, FP Rossiter, JM Opitz: Geleophysic dwarfism – a "focal" mucopolysaccharidosis? In: Lancet. Vol. 2, No. 7715, July 1971, pp. 97-98, PMID 4104008 .
  4. ↑ a b c d Gene Review
  5. ↑ Geleophysic dysplasia 1.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Geleophysic dysplasia 2.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ AM McInerney-Leo, C. Le Goff, PJ Leo, TJ Kenna, P. Keith, JE Harris, R. Steer, C. Bole-Feysot, P. Nitschke, C. Kielty, MA Brown, A. Zankl, EL Duncan, V. Cormier-Daire: Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. In: Journal of medical genetics. Vol. 53, No. 7, July 2016, pp. 457-464, doi: 10.1136 / jmedgenet-2015-103647 , PMID 27068007 .
  8. ^ A. Scott, S. Yeung, DF Dickinson, G. Karbani, YJ Crow: Natural history of cardiac involvement in geleophysic dysplasia. In: American journal of medical genetics. Part A. Vol. 132A, No. 3, January 2005, pp. 320-323, doi: 10.1002 / ajmg.a.30450 , PMID 15690380 (review).
  9. ^ X. Zhang, RG Boles, SK Law, M. Lin: Ocular findings in geleophysic dysplasia. In: Journal of AAPOS: the official publication of the American Association for Pediatric Ophthalmology and Strabismus. Vol. 8, No. 2, April 2004, pp. 198-200, doi: 10.1016 / S1091853103002532 , PMID 15088061 (review).
  10. ↑ PW Vanace, S. Friedman, BM Wagner: Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. In: Circulation. Vol. 21, January 1960, pp. 80-89, PMID 13841169 .

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