short rib polydactyly syndrome
Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognized types present:
- type I: Saldino-Noonan type
- type II:: Majewski type
- type III: Verma-Naumoff type
- type IV: Beemer-Langer type
There may also be other very rare types described, such as :
- Hall-Piepkorn type
- Le Marec type
- Martinez-Frias type
- Tsai-Huang type
- Yang type
Clinical presentation
While there is some variation in the clinical spectrum, they can be collectively characterized by :
- short-limb dysplasia/micromelia
- narrow fetal thorax (with short ribs)
- polydactyly
Pathology
Genetics
Collectively, most cases carry an autosomal recessive inheritance.
Associations
Multiple anomalies of major organs are common . These include:
Treatment and prognosis
SRPSs are lethal anomalies and management is often supportive.
See also
- skeletal dysplasias
- lethal skeletal dysplasias
- Jeune syndrome: occasionally characterized as an SRPS
Siehe auch:
- Polydaktylie
- Skelettdysplasie
- angeborene renale Anomalien
- narrow fetal thorax
- asphyxierende Thoraxdysplasie (Jeune-Syndrom)
- lethal skeletal dysplasias
- Kurzripp-Polydaktylie-Syndrom III Typ LeMarec
- Kurzripp-Polydaktylie-Syndrom I Typ Saldino-Noonan
- osteochondrodysplasias
- Kurzripp-Polydaktylie-Syndrom IV Typ Yang
- Kurzripp-Polydaktylie-Syndrom Typ Verma-Naumoff
- Kurzripp-Polydaktylie-Syndrom VII Typ Beemer
- Kurzripp-Polydaktylie-Syndrom VI Typ Majewski
und weiter:
