Achondrogenesis type IB
| Classification according to ICD-10 | |
|---|---|
| Q77.0 | Achondrogenesis |
| ICD-10 online (WHO version 2019) | |
The Achondrogenesis type IB or type Fraccaro is a sub-form of Achondrogenesis , a lethal extending skeletal dysplasia with lack of enchondral ossification .
The disease was described in 1952 by the Italian geneticist M. Fraccaro .
frequency
The frequency is not known.
Inheritance mode
The inheritance is done with autosomal - recessive inheritance.
root cause
It is based on a mutation in the SLC26A2 gene at location 5q32
Clinical manifestations
Diagnostic criteria are:
- Severe congenital short stature with stubby limbs and a short trunk
- The children are stillborn or die in the first days of life
Diagnosis
The x-ray shows a characteristically greatly delayed or absent ossification of the vertebral bodies, the seat and pubic bones, short ribs without fractures, extremely shortened tubular bones with considerable bending.
Differential diagnostics
Other forms of achondrogenesis are to be distinguished from achondrogenesis type IA and achondrogenesis type II as well as osteogenesis imperfecta type II and diastrophic dysplasia .
literature
- JW Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .
Individual evidence
- ↑ M. Fraccaro: Contributo allo study delle malattie del mesenchima osteopoietico: L'acondrogenesi. In: Folia herd path 1952, Vol. I, pp. 190-207
- ↑ Achondrogenesis type IB. In: Orphanet (Rare Disease Database).
- ↑ Achondrogenesis type IB. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b 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
