Acromesomelic dysplasia
Classification according to ICD-10 | |
---|---|
Q77.8 | Other osteochondrodysplasias with growth disorders of the long bones and the spine |
Q78.8 | Other specified osteochondrodysplasias |
ICD-10 online (WHO version 2019) |
The Akromesomele dysplasia (AMD) is a group of very rare congenital skeletal dysplasias with the main features of dwarfism of the mean ( "meso" ) and distal ( "akro" ) limbs ( "melie" ).
The first description comes from 1971 by the Parisian pediatrician and human geneticist Pierre Maroteaux (* 1926) and colleagues. The clinical picture described is now known as the Maroteaux type.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
Depending on the underlying mutation and / or clinical appearance, the following types can be distinguished:
- AMDG ( Grebe type ) Synonym: chondrodysplasia Grebe , manifestation in the newborn, mutations in GDF5 - gene on chromosome 20 locus q11.22
- AMDH ( Hunter-Thompson type ), synonym: short stature, acromesomeler , mutations in the same gene as in Grebe type and in type C brachydactyly
- AMDM ( Maroteaux type ), with vertebral changes, mutations in the NPR2 gene on chromosome 9 locus p13.3
- AMDD (Demirhan type), mutations in the BMPR1B gene on chromosome 4 locus q22.3
Clinical manifestations
Common clinical criteria are:
- Disproportionate stature, especially short forearms, hands, lower legs and feet
- Abnormalities at birth, increasing over time
diagnosis
The diagnosis is based on clinical and radiological findings and genetic examination .
literature
- S. Khan, S. Basit, MA Khan, N. Muhammad, W. Ahmad: Genetics of human isolated acromesomelic dysplasia. In: European journal of medical genetics. Volume 59, Number 4, April 2016, pp. 198-203, doi: 10.1016 / j.ejmg.2016.02.011 , PMID 26926249 (review).
- A. Güven, A. Dagcinar, M. Ceyhan: Coexistence of craniovertebral junction stenosis with pancake kidney in an adolescent with acromesomelic dysplasia. In: Journal of pediatric endocrinology & metabolism: JPEM. Volume 21, Number 10, October 2008, pp. 941-942, PMID 19209615 .
Individual evidence
- ↑ 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 dysplasia, acromesomele. In: Orphanet (Rare Disease Database).
- ^ P. Maroteaux, B. Martinelli, E. Campailla: Le nanisme acromésomélique. In: La Presse medicale. Volume 79, Number 42, October 1971, pp. 1839-1842, PMID 5000841 .
- ↑ Dysplasia, acromesomele, Grebe type. In: Orphanet (Rare Disease Database).
- ↑ Chondrodysplasia, Grebe type. In: Online Mendelian Inheritance in Man . (English)
- ↑ Dysplasia, acromesomele, Hunter-Thompson type. In: Orphanet (Rare Disease Database).
- ↑ Acromesomelic dysplasia, Hunter-Thompson type. In: Online Mendelian Inheritance in Man . (English)
- ↑ Dysplasia, acromesomele, Maroteaux type. In: Orphanet (Rare Disease Database).
- ↑ Acromesomelic dysplasia, Maroteaux type. In: Online Mendelian Inheritance in Man . (English)
- ↑ Acromesomelic dysplasia, Demirhan type. In: Online Mendelian Inheritance in Man . (English)