Acromicric dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q77.8 | Other osteochondrodysplasias with growth disorders of the long bones and the spine |
| ICD-10 online (WHO version 2019) | |
The Akromikrische dysplasia is a very rare congenital skeletal dysplasia with the main features short stature , mild facial dysmorphia , acromicria (short hands and feet) with characteristic changes in the X-ray image .
The name was suggested by the authors of the first description from 1986, the Parisian pediatrician and human geneticist Pierre Maroteaux et al .
distribution
The frequency is given as less than 1 in 1,000,000, so far more than 60 people have been reported. The inheritance is autosomal dominant .
root cause
The disease are mutations in FBN1 - gene (on chromosome 15 , locus q21.1) basis, which for the formation of fibrillin is responsible first
Clinical manifestations
Clinical criteria are:
- Manifestation around the third year of life with growth retardation
- average adult height at 130 cm (121-143 cm)
- short hands, feet and limbs, disproportionate short stature
- Facial abnormalities that regress in adults, such as a round face with narrow eyelids, accentuated eyebrows and long eyelashes, a short nose with forward nostrils, a long philtrum , thickened lips, and a microstomy
In addition, there may be limited mobility of the joints, complications in the ears and airways and abnormalities in the spine. Carpal tunnel syndrome often develops in later years.
diagnosis
The radiograph shows the following features: delayed bone age , cone epiphyses , short metacarpal bones and phalanges with a notch on metacarpals II and V and medially on the femoral head.
Differential diagnosis
The following are to be distinguished:
- Geleophysical short stature (with cardiac abnormalities)
- Weill-Marchesani syndrome (with microsphaerophakia)
- Myhre syndrome (with progeny, hearing loss, developmental delay, and a thick roof of the skull)
therapy
Treatment is based on the symptoms of hip dysplasia and, later, of carpal tunnel syndrome.
Prospect of healing
The prognosis is good.
literature
- C. Klein, C. Le Goff, V. Topouchian, S. Odent, P. Violas, C. Glorion, V. Cormier-Daire: Orthopedics management of acromicric dysplasia: follow up of nine patients. In: American journal of medical genetics. Part A. Vol. 164A, No. 2, February 2014, pp. 331-337, doi: 10.1002 / ajmg.a.36139 , PMID 24339047 .
- C. Le Goff, C. Mahaut, LW Wang et al .: Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. In: American Journal of Human Genetics . Vol. 89, No. 1, July 2011, pp. 7-14, doi: 10.1016 / j.ajhg.2011.05.012 , PMID 21683322 , PMC 3135800 (free full text).
Individual evidence
- ↑ a b c d e f Dysplasia, acromicric. In: Orphanet (Rare Disease Database).
- ↑ a b 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 .
- ↑ P. Maroteaux, R. Stanescu, V. Stanescu, R. Rappaport: Acromicric dysplasia. In: American journal of medical genetics. Vol. 24, No. 3, July 1986, pp. 447-459, doi: 10.1002 / ajmg.1320240307 , PMID 3728563 .
- ↑ Acromicric dysplasia. In: Online Mendelian Inheritance in Man . (English)
