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Short rib-polydactyly syndrome, Majewski type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Short rib-polydactyly syndrome type 2; Short rib-polydactyly syndrome type II; SRPS type 2; SRPS, TYPE II
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Related genes: DYNC2H1, NEK1
Monarch Initiative: MONDO:0019662
Orphanet: ORPHA93269


A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period. [from ORDO]

Professional guidelines


Chen CP, Chen CY, Chern SR, Su JW, Wang W
Taiwan J Obstet Gynecol 2012 Dec;51(4):643-8. doi: 10.1016/j.tjog.2012.10.001. PMID: 23276573
Meizner I, Bar-Ziv J, Insler V
Isr J Med Sci 1986 May;22(5):350-4. PMID: 3528048
Toftager-Larsen K, Benzie RJ
Clin Genet 1984 Jul;26(1):56-60. doi: 10.1111/j.1399-0004.1984.tb00789.x. PMID: 6467657

Recent clinical studies


Prudlo J, Stoltenburg-Didinger G, Jimenez E, Cervós-Navarro J
Dev Med Child Neurol 1993 Feb;35(2):158-62. doi: 10.1111/j.1469-8749.1993.tb11617.x. PMID: 8444329

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