short rib dysplasias
short-rib osteochondrodysplasias
Etiology
asphyxiating thoracic dysplasia (Jeune syndrome)
- Jeune syndrome type 1
- Jeune syndrome type 2
Ellis-van Crveld syndrome
SRPS (short rib-polydactyly syndromes)
- short rib-polydactyly syndrome type 1 (Saldino-Noonan syndrome)
- short rib-polydactyly syndrome type 2 (Majewski syndrome)
- short rib-polydactyly syndrome type 3 (verma-Naumoff syndrome)
- short rib-polydactyly syndrome type 4 (Beemer-Langer syndrome)
otopalatodigital syndrome type 2
Overlap syndromes
There are overlap syndromes assocating features from Mohr syndrome, short rib-polydactyly syndromes (SRPS) as Majewski syndrome (SRPS1), Verma-Naumoff type (SRPS3), Beemer type (SRPS4), and Jeune syndrome. (8599362)
See also
References
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet. 1995 Nov 20;59(3):359-64. PMID: 8599362