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Short Rib-Polydactyly Syndrome (Syndrome, Majewski)

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A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.

Also Known As:

Syndrome, Majewski; Polydactyly with Neonatal Chondrodystrophy, Type 1; Polydactyly with Neonatal Chondrodystrophy, Type 2; Short Rib-Polydactyly Syndrome Type 1; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Saldino Noonan Syndrome; Short Rib Polydactyly Syndrome; Short Rib Polydactyly Syndrome Type 1; Short Rib Polydactyly Syndrome, Majewski Type; Short Rib Polydactyly Syndrome, Saldino Noonan Type; Short Rib-Polydactyly Syndromes; Syndrome, Saldino-Noonan; Syndrome, Short Rib-Polydactyly; Majewski Syndrome; Saldino-Noonan Syndrome

Networked: 25 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Polydactyly (Polydactylism)
2.	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
3.	Orofaciodigital Syndromes (Orofaciodigital Syndrome)
4.	Thanatophoric Dysplasia (Dwarfism, Thanatophoric)
5.	Osteogenesis Imperfecta (Lobstein Disease)

Experts

1.	Chen, Chih-Ping: 2 articles (12/2012 - 03/2008)
2.	McGuire, Marianne: 1 article (09/2015)
3.	Zahid, Maliha: 1 article (09/2015)
4.	Lo, Cecilia W: 1 article (09/2015)
5.	Madan-Khetarpal, Suneeta: 1 article (09/2015)
6.	Garrod, Andrea S: 1 article (09/2015)
7.	Panigrahy, Ashok: 1 article (09/2015)
8.	Li, You: 1 article (09/2015)
9.	Sreedher, Gayathri: 1 article (09/2015)
10.	Weiner, Daniel J: 1 article (09/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Short Rib-Polydactyly Syndrome:

1.	Jeune syndromeIBA 09/01/2015 - "Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short-rib polydactyly, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia. " 08/01/2015 - "Short-rib polydactyly syndrome type III is an autosomal recessive lethal skeletal ciliopathy, which is phenotypically similar to nonlethal asphyxiating thoracic dystrophy. " 05/01/2009 - "DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III." 08/01/2000 - "There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum. " 08/01/2000 - "Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes."
2.	Verma-Naumoff type Short rib-polydactyly syndromeIBA 09/01/2005 - "Short rib polydactyly syndrome type 3 with absence of fibulae (Verma-Naumoff syndrome)." 01/01/1988 - "The histopathology of growth cartilage of long bones was studied in two cases of chondroectodermal dysplasia (Ellis-Van Creveld syndrome), a case of short-rib polydactyly (SRP) type I (Saldino-Noonan syndrome), three cases of short-rib polydactyly (SRP) type III (Verma-Naumoff syndrome), and a case with polydactyly without other skeletal abnormalities but with visceral malformations. " 08/15/2012 - "In this review, we focus on skeletal conditions belonging to the ciliopathy group: the short rib-polydactyly group (SRPs) that includes Verma-Naumoff syndrome (SRP type III), Majewski syndrome (SRP type II), Jeune syndrome (ATD), as well as Ellis-van Creveld syndrome (EVC), the Sensenbrenner syndrome, and, finally, Weyers acrofacial dysostosis. "
3.	Beemer type Short rib-polydactyly syndromeIBA 05/15/1993 - "Short rib (polydactyly) syndrome type IV: Beemer-Langer syndrome." 09/01/2009 - "Diagnosis of short rib polydactyly syndrome type IV (Beemer-Langer syndrome) with cystic hygroma: A case report."
4.	Hydrolethalus syndromeIBA 08/01/1992 - "We present 2 unrelated fetuses with manifestations of both the hydrolethalus syndrome and the short rib-polydactyly syndrome, type Majewski. " 08/01/1992 - "It is proposed that cases of hydrolethalus syndrome with short limbs constitute a separate type of lethal osteochondrodysplasia mimicking short rib-polydactyly syndromes." 12/01/2012 - "Prenatal diagnosis of an endocardial cushion defect with postaxial polydactyly should include a differential diagnosis of EvC syndrome in addition to short rib-polydactyly syndrome, Bardet-Biedl syndrome, orofaciodigital syndrome, Smith-Lemli-Opitz syndrome, and hydrolethalus syndrome."
5.	Proteins (Proteins, Gene)IBA 01/01/2015 - "Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis."
6.	CDPdiacylglycerol-Serine O-PhosphatidyltransferaseIBA 01/01/2014 - "Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome."
7.	Nitric Oxide (Nitrogen Monoxide)FDA Link 01/01/2015 - "In this paper, we present a term newborn with persistent pulmonary hypertension of the newborn, which has developed secondary to short-rib polydactyly syndrome and was resistant to therapy with inhaled nitric oxide and oral sildenafil. "
8.	Folic Acid AntagonistsIBA 03/01/2008 - "This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. "
9.	Dandy Walker cystIBA 01/01/1988 - "A case of atypical short-rib polydactyly syndrome (Majewski) with severe cerebral malformations (infundibular hamartoma, Dandy-Walker cyst, aplasia of cerebellar vermis, etc.) is reported. "
10.	Dyssegmental dysplasiaIBA 10/01/1998 - "Clefts were most frequently observed in atelosteogenesis (88%), followed by chondrodysplasia punctata (79%), dyssegmental dysplasia (73%), Kniest dysplasia (63%) and short rib polydactyly syndrome (53%). " 10/01/1998 - "A search in the database at the International Skeletal Dysplasia Registry revealed 40 different diagnoses in which coronal or sagittal clefts were present, the major groups being: atelosteogenesis, chondrodysplasia punctata, dyssegmental dysplasia, Kniest dysplasia and short rib polydactyly syndrome. "