Achondrogenesis
| Classification according to ICD-10 | |
|---|---|
| Q77.0 | Achondrogenesis |
| ICD-10 online (WHO version 2019) | |
The Achondrogenesis is a lethal running skeletal dysplasia with absent endochondral ossification in newborns.
frequency
The frequency is not known.
classification
Depending on the mode of inheritance and clinical-radiological criteria, a distinction is made:
- Achondrogenesis type I autosomal - recessive inheritance
- Achondrogenesis type IA Houston-Harris with mutation in the TRIP11 gene at location 14q32.12
- Achondrogenesis type IB Fraccaro with mutation in the SLC26A2 gene at location 5q32
- Achondrogenesis type II Langer-Saldino , autosomal dominant inheritance with mutation in the COL2A1 gene at location 12q13.11
Clinical manifestations
Clinical common criteria are:
- Short stature with short limbs, short trunk and relatively large abdomen and head.
- The children are stillborn or die in the first days of life.
literature
- JW Spranger: Bone Dysplasias . Urban & Fischer 2002, ISBN 3-437-21430-6 .
- 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 .
Individual evidence
- ↑ achondrogenesis. In: Orphanet (Rare Disease Database).
- ↑ Achondrogenesis Type IA. In: Online Mendelian Inheritance in Man . (English)
- ↑ Achondrogenesis Type IB. In: Online Mendelian Inheritance in Man . (English)
- ^ Achondrogenesis Type II. In: Online Mendelian Inheritance in Man . (English)
