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Narrow vertebral interpedicular distance

MedGen UID:
318662
Concept ID:
C1832598
Finding
Synonyms: Narrow interpedicular space; Narrow interpediculate distances; Narrowing of interpediculate distances
 
HPO: HP:0008450

Definition

A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. [from HPO]

Conditions with this feature

Achondroplasia
MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.
Metaphyseal chondrodysplasia, McKusick type
MedGen UID:
67398
Concept ID:
C0220748
Congenital Abnormality
The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family.
Schneckenbecken dysplasia
MedGen UID:
98475
Concept ID:
C0432194
Disease or Syndrome
Schneckenbecken dysplasia (SHNKND) is a perinatally lethal skeletal dysplasia. The German term 'Schneckenbecken' refers to the distinctive, snail-like appearance of the ilia that results from a medial bone projection from the inner iliac margin. Other hallmarks of the disorder include thoracic hypoplasia, severe flattening of the vertebral bodies, and short, thick long bones (summary by Hiraoka et al., 2007).
Sponastrime dysplasia
MedGen UID:
266247
Concept ID:
C1300260
Disease or Syndrome
Sponastrime dysplasia is an autosomal recessive spondyloepimetaphyseal dysplasia (SEMD) named for characteristic clinical and radiographic findings, including spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, and striation of the metaphyses. Additional features include disproportionate short stature with exaggerated lumbar lordosis, scoliosis, coxa vara, limited elbow extension, small dysplastic epiphyses, childhood cataracts, short dental roots, and hypogammaglobulinemia. Radiographically, the abnormalities of the lumbar vertebral bodies are suggested to be the most specific finding because the characteristic metaphyseal striations may not be apparent at young ages. Striking clinical variability in presentation, severity, and associated features has been observed (summary by Burrage et al., 2019).
Brachyolmia-amelogenesis imperfecta syndrome
MedGen UID:
318659
Concept ID:
C1832594
Disease or Syndrome
Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported.
Spondyloepiphyseal dysplasia with congenital joint dislocations
MedGen UID:
373381
Concept ID:
C1837657
Disease or Syndrome
CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal.
Spondyloepimetaphyseal dysplasia, Shohat type
MedGen UID:
400703
Concept ID:
C1865185
Disease or Syndrome
Shohat-type spondyloepimetaphyseal dysplasia (SEMDSH) is a chondrodysplasia characterized by vertebral, epiphyseal, and metaphyseal abnormalities, including scoliosis with vertebral compression fractures, flattened vertebral bodies, and hypomineralization of long bones. Affected individuals may exhibit a small trunk, short neck, small limbs, joint laxity, bowlegs, and/or abdominal distention with hepatosplenomegaly (summary by Egunsola et al., 2017).
Acrodysostosis 1 with or without hormone resistance
MedGen UID:
477858
Concept ID:
C3276228
Disease or Syndrome
Acrodysostosis-1 (ACRDYS1) is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). Genetic Heterogeneity of Acrodysostosis See also ACRDYS2 (614613), caused by mutation in the PDE4D gene (600129) on chromosome 5q12.
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
MedGen UID:
1677378
Concept ID:
C5193073
Disease or Syndrome
Spondyloepimetaphyseal dysplasia with joint laxity-3 (SEMDJL3) is characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones (Girisha et al., 2016). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640).
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities
MedGen UID:
1824004
Concept ID:
C5774231
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities (NEDDFSB) is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities. More variable additional findings include hypotonia, seizures, and ocular defects. Brain imaging tends to show structural defects of the corpus callosum and cerebellar hypoplasia (Duijkers et al., 2019).

Professional guidelines

PubMed

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A
Pediatr Radiol 2016 Apr;46(4):513-8. Epub 2016 Feb 11 doi: 10.1007/s00247-015-3518-2. PMID: 26867606

Recent clinical studies

Etiology

Calandrelli R, Pilato F, Massimi L, Onesimo R, D'Apolito G, Tenore L, Leoni C, Zampino G, Colosimo C
J Neuroimaging 2022 Sep;32(5):884-893. Epub 2022 Jun 12 doi: 10.1111/jon.13015. PMID: 35691933Free PMC Article
Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A
Pediatr Radiol 2016 Apr;46(4):513-8. Epub 2016 Feb 11 doi: 10.1007/s00247-015-3518-2. PMID: 26867606
Caffaro MF, Avanzi O
Spine (Phila Pa 1976) 2012 Feb 15;37(4):E231-6. doi: 10.1097/BRS.0b013e318237b0cf. PMID: 22333930
Zehnder SW, Ward CV, Crow AJ, Alander D, Latimer B
Spine (Phila Pa 1976) 2009 Feb 1;34(3):285-90. doi: 10.1097/BRS.0b013e3181956053. PMID: 19179924
Cooper HA, Crowe J, Butler MG
Am J Med Genet 2000 May 1;92(1):33-9. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u. PMID: 10797420Free PMC Article

Diagnosis

Lai MKL, Cheung PWH, Samartzis D, Karppinen J, Cheung KMC, Cheung JPY
Bone Joint J 2021 Apr;103-B(4):725-733. doi: 10.1302/0301-620X.103B4.BJJ-2020-1792.R1. PMID: 33789478
Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A
Pediatr Radiol 2016 Apr;46(4):513-8. Epub 2016 Feb 11 doi: 10.1007/s00247-015-3518-2. PMID: 26867606
Caffaro MF, Avanzi O
Spine (Phila Pa 1976) 2012 Feb 15;37(4):E231-6. doi: 10.1097/BRS.0b013e318237b0cf. PMID: 22333930
Cooper HA, Crowe J, Butler MG
Am J Med Genet 2000 May 1;92(1):33-9. doi: 10.1002/(sici)1096-8628(20000501)92:1<33::aid-ajmg6>3.0.co;2-u. PMID: 10797420Free PMC Article
Wynne-Davies R, Walsh WK, Gormley J
J Bone Joint Surg Br 1981;63B(4):508-15. doi: 10.1302/0301-620X.63B4.7298674. PMID: 7298674

Clinical prediction guides

Lai MKL, Cheung PWH, Samartzis D, Karppinen J, Cheung KMC, Cheung JPY
Bone Joint J 2021 Apr;103-B(4):725-733. doi: 10.1302/0301-620X.103B4.BJJ-2020-1792.R1. PMID: 33789478
Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A
Pediatr Radiol 2016 Apr;46(4):513-8. Epub 2016 Feb 11 doi: 10.1007/s00247-015-3518-2. PMID: 26867606
Vleggeert-Lankamp C, Peul W
J Neurosurg Spine 2012 Aug;17(2):164-72. Epub 2012 Jun 22 doi: 10.3171/2012.4.SPINE1220. PMID: 22724572
Leiviskä T, Videman T, Nurminen T, Troup JD
Acta Radiol Diagn (Stockh) 1985 Jul-Aug;26(4):403-11. doi: 10.1177/028418518502600407. PMID: 4050520

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