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

1. ↑ 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 c} dysplasia, acromesomele. In: Orphanet (Rare Disease Database).
3. ^ P. Maroteaux, B. Martinelli, E. Campailla: Le nanisme acromésomélique. In: La Presse medicale. Volume 79, Number 42, October 1971, pp. 1839-1842, PMID 5000841 .
4. ↑ Dysplasia, acromesomele, Grebe type. In: Orphanet (Rare Disease Database).
5. ↑ Chondrodysplasia, Grebe type.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ Dysplasia, acromesomele, Hunter-Thompson type. In: Orphanet (Rare Disease Database).
7. ↑ Acromesomelic dysplasia, Hunter-Thompson type.  In: Online Mendelian Inheritance in Man . (English)
8. ↑ Dysplasia, acromesomele, Maroteaux type. In: Orphanet (Rare Disease Database).
9. ↑ Acromesomelic dysplasia, Maroteaux type.  In: Online Mendelian Inheritance in Man . (English)
10. ↑ Acromesomelic dysplasia, Demirhan type.  In: Online Mendelian Inheritance in Man . (English)

Web links

• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !