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Neonatal short-trunk short stature

MedGen UID:
461258
•Concept ID:
C3149908
•
Finding
Synonym: Dwarfism, short-trunk, identifiable at birth
 
HPO: HP:0008857

Definition

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal short-trunk short stature

Conditions with this feature

Spondyloepiphyseal dysplasia congenita
MedGen UID:
412530
•Concept ID:
C2745959
•
Congenital Abnormality
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
See: Condition Record
Spondyloepiphyseal dysplasia congenita

Recent clinical studies

Etiology

Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings.
Lawson ME, Share J, Benacerraf B, Krauss CM
J Perinatol 1997 Sep-Oct;17(5):407-9. PMID: 9373850
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.
Aymé S, Preus M
Am J Med Genet 1986 Aug;24(4):599-606. doi: 10.1002/ajmg.1320240403. PMID: 3740094
Achondrogenesis: new nosology with evidence of genetic heterogeneity.
Whitley CB, Gorlin RJ
Radiology 1983 Sep;148(3):693-8. doi: 10.1148/radiology.148.3.6878687. PMID: 6878687

Diagnosis

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.
Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K
Eur J Med Genet 2019 Jan;62(1):21-26. Epub 2018 Apr 25 doi: 10.1016/j.ejmg.2018.04.013. PMID: 29704686
Axial spondylometaphyseal dysplasia: additional reports.
Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G
Am J Med Genet A 2011 Oct;155A(10):2521-8. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.34192. PMID: 21910225
Anomalies of vertebrae and ribs: Jarcho Levin syndrome. Description of a case and literature review.
Vázquez-López ME, López-Conde MI, Somoza-Rubio C, Pérez-Pacín R, Morales-Redondo R, González-Gay MA
Joint Bone Spine 2005 May;72(3):275-7. doi: 10.1016/j.jbspin.2004.06.007. PMID: 15851003
Pulmonary hypoplasia in Jarcho-Levin syndrome.
Rodríguez LM, García-García I, Correa-Rivas MS, García-Fragoso L
P R Health Sci J 2004 Mar;23(1):65-7. PMID: 15125221
Dyssegmental dysplasia: short-trunk, short-limb dwarfism with anisospondyly. A case report.
Reckling WC, Cheng EY
J Bone Joint Surg Am 1994 Oct;76(10):1551-6. PMID: 7929504

Prognosis

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.
Simsek-Kiper PO, Kosukcu C, Akgun-Dogan O, Gocmen R, Utine GE, Soyer T, Korkmaz-Toygar A, Nishimura G, Alikasifoglu M, Boduroglu K
Eur J Med Genet 2019 Jan;62(1):21-26. Epub 2018 Apr 25 doi: 10.1016/j.ejmg.2018.04.013. PMID: 29704686
Association between Kniest dysplasia and chondrosarcoma in a child.
Hochart A, Dieux A, Coucke P, Fron D, Fayoux P, Labalette P, Boutry N, Escande F, Aubert S, Renaud F, Rocourt N, Vinchon M, Leblond P
Am J Med Genet A 2015 Dec;167A(12):3204-8. Epub 2015 Sep 8 doi: 10.1002/ajmg.a.37361. PMID: 26345137
Jarcho-Levin syndrome: prenatal diagnosis, perinatal care, and follow-up of siblings.
Lawson ME, Share J, Benacerraf B, Krauss CM
J Perinatol 1997 Sep-Oct;17(5):407-9. PMID: 9373850
Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling.
Aymé S, Preus M
Am J Med Genet 1986 Aug;24(4):599-606. doi: 10.1002/ajmg.1320240403. PMID: 3740094

Clinical prediction guides

Axial spondylometaphyseal dysplasia: additional reports.
Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G
Am J Med Genet A 2011 Oct;155A(10):2521-8. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.34192. PMID: 21910225
Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.
Mortier GR, Lachman RS, Bocian M, Rimoin DL
Am J Med Genet 1996 Feb 2;61(4):310-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y. PMID: 8834041
Achondrogenesis: new nosology with evidence of genetic heterogeneity.
Whitley CB, Gorlin RJ
Radiology 1983 Sep;148(3):693-8. doi: 10.1148/radiology.148.3.6878687. PMID: 6878687

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