Short rib polydactyly syndromes
| Classification according to ICD-10 | |
|---|---|
| Q77.2 | Short rib polydactyly syndromes |
| ICD-10 online (WHO version 2019) | |
The short rib polydactyly syndromes comprise some congenital hereditary osteochondrodysplasias with a fatal course characterized by short ribs and underdeveloped lungs.
distribution
The frequency of this group of diseases is not known; the inheritance is autosomal - recessive .
Clinical manifestations
Common features are:
- Short ribs with thoracic - hypoplasia , pulmonary and respiratory failure
- Shortening and dysplasia of long bones, often polydactyly
In addition, there are malformations of the heart , the urogenital system and intestine , cleft lip and palate , the epiglottis , trachea and esophagus.
Classification
The international classification as stored in Orphanet includes:
- Short rib polydactyly syndrome I type Saldino-Noonan
- Short rib polydactyly syndrome type II Majewski
- Short rib polydactyly syndrome type III Verma-Naumoff
- Short rib polydactyly syndrome type IV Beemer-Langer
Based on morphological-radiological criteria, the following expanded subdivision is possible:
- Short rib polydactyly syndrome type I Saldino-Noonan
- Short rib polydactyly syndrome II type Verma-Naumoff
- Short rib polydactyly syndrome III type Le Marec
- Short rib polydactyly syndrome IV type Yang
- Short rib polydactyly syndrome V type Jeune
- Short rib polydactyly syndrome VI Majewski type
- Short rib polydactyly syndrome VII Beemer type
Differential diagnosis
- Most pronounced shortening of the ribs and extremities and changes in the pelvis in Saldino-Noonan syndrome
- Normal pelvis in Majewski syndrome
- Cleft lip and palate only in Majewski's syndrome
- Anal atresia only in Saldino-Noonan syndrome
There are also similarities with Ellis-van-Creveld syndrome .
therapy
Surgical intervention with the VEPTR procedure may be possible in suitable patients .
literature
- J. Spranger, P. Maroteaux: The lethal osteochondrodysplasias. In: Advances in human genetics. Vol. 19, 1990, pp. 1-103, 331, ISSN 0065-275X . PMID 2193487 . (Review).
- JW Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .
Individual evidence
- ↑ a b c 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
- ^ Short rib polydactyly syndromes. In: Orphanet (Rare Disease Database).
- ↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996 vol. 1, p. 316, ISBN 3-540-60224-0 .
