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Spondyloenchondrodysplasia(SPENCD)

MedGen UID:
98477
Concept ID:
C0432222
Disease or Syndrome
Synonyms: SPENCD; Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: HPO
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
SNOMED CT: Spondyloenchondromatosis (389268008); Spondyloenchondrodysplasia (254079002)
 
OMIM®: 271550
Orphanet: ORPHA1855

Definition

Spondyloenchondrodysplasia is a rare skeletal dysplasia involving vertebral dysplasia and enchondroma-like lesions in the pelvis and long bones. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Also see spondyloenchondrodysplasia with immune dysregulation (SPENCDI; 607944), which is caused by mutation in the ACP5 gene (171640). It has been suggested by some that the various clinical manifestations observed in association with SPENCD may be pleiotropic manifestations of a single nosologic entity defined by the presence of typical spondylar and metaphyseal changes (see Renella et al., 2006). [from OMIM]

Clinical features

Enchondromatosis
MedGen UID:
41775
Concept ID:
C0014084
Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Abnormality of the tibial metaphysis
MedGen UID:
870589
Concept ID:
C4025038
Anatomical Abnormality
Metaphyseal enchondromatosis
MedGen UID:
870667
Concept ID:
C4025121
Anatomical Abnormality
An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.
Abnormality of ulnar metaphysis
MedGen UID:
870961
Concept ID:
C4025424
Anatomical Abnormality
Abnormality of radial metaphyses
MedGen UID:
870981
Concept ID:
C4025444
Anatomical Abnormality
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Intellectual functioning disability
MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within brain structures.
Progressive spastic quadriplegia
MedGen UID:
347944
Concept ID:
C1859736
Finding
Progressive spastic quadriplegia
MedGen UID:
347944
Concept ID:
C1859736
Finding
Enchondromatosis
MedGen UID:
41775
Concept ID:
C0014084
Finding
Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). Classification of the Enchondromatoses In their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (156250), type III; spondyloenchondrodysplasia (607944), type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978). Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Cerebral calcification
MedGen UID:
124360
Concept ID:
C0270685
Finding
The presence of calcium deposition within brain structures.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Spondyloepimetaphyseal dysplasia Strudwick type
MedGen UID:
147134
Concept ID:
C0700635
Finding
The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Abnormality of pelvic girdle bone morphology
MedGen UID:
866545
Concept ID:
C4020847
Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Abnormality of epiphysis morphology
MedGen UID:
867251
Concept ID:
C4021611
Anatomical Abnormality
An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.
Abnormality of the tibial metaphysis
MedGen UID:
870589
Concept ID:
C4025038
Anatomical Abnormality
Metaphyseal enchondromatosis
MedGen UID:
870667
Concept ID:
C4025121
Anatomical Abnormality
An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins.
Abnormality of ulnar metaphysis
MedGen UID:
870961
Concept ID:
C4025424
Anatomical Abnormality
Abnormality of radial metaphyses
MedGen UID:
870981
Concept ID:
C4025444
Anatomical Abnormality
Late tooth eruption
MedGen UID:
68678
Concept ID:
C0239174
Pathologic Function
Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloenchondrodysplasia
Follow this link to review classifications for Spondyloenchondrodysplasia in Orphanet.

Recent clinical studies

Etiology

Munoz J, Rodière M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, Rozenberg F, Crow YJ, Bessis D
JAMA Dermatol 2015 Aug;151(8):872-7. doi: 10.1001/jamadermatol.2015.0251. PMID: 25992765
Nelson CP, Schunkert H, Samani NJ, Erridge C
Arterioscler Thromb Vasc Biol 2015 Jun;35(6):1456-62. Epub 2015 Apr 16 doi: 10.1161/ATVBAHA.114.304925. [Epub ahead of print] PMID: 25882064
Crow YJ
Ann N Y Acad Sci 2011 Nov;1238:91-8. doi: 10.1111/j.1749-6632.2011.06220.x. PMID: 22129056
Yeşiltepe-Mutlu G, Ozsu E, Cizmecioğlu FM, Alanay Y, Hatun S
Turk J Pediatr 2011 Jul-Aug;53(4):464-6. PMID: 21980854
Uhlmann D, Rupprecht E, Keller E, Hörmann D
Pediatr Radiol 1998 Aug;28(8):617-21. doi: 10.1007/s002470050431. PMID: 9716637

Diagnosis

Yeşiltepe-Mutlu G, Ozsu E, Cizmecioğlu FM, Alanay Y, Hatun S
Turk J Pediatr 2011 Jul-Aug;53(4):464-6. PMID: 21980854
Navarro V, Scott C, Briggs TA, Barete S, Frances C, Lebon P, Maisonobe T, Rice GI, Wouters CH, Crow YJ
Am J Med Genet A 2008 Nov 1;146A(21):2810-5. doi: 10.1002/ajmg.a.32518. PMID: 18924170
Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A
Am J Med Genet A 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. PMID: 16470600
Tüysüz B, Arapoglu M, Ungür S
Am J Med Genet A 2004 Jul 15;128A(2):185-9. doi: 10.1002/ajmg.a.30078. PMID: 15214014
Uhlmann D, Rupprecht E, Keller E, Hörmann D
Pediatr Radiol 1998 Aug;28(8):617-21. doi: 10.1007/s002470050431. PMID: 9716637

Therapy

Nelson CP, Schunkert H, Samani NJ, Erridge C
Arterioscler Thromb Vasc Biol 2015 Jun;35(6):1456-62. Epub 2015 Apr 16 doi: 10.1161/ATVBAHA.114.304925. [Epub ahead of print] PMID: 25882064

Prognosis

Isidor B, Guillard S, Hamel A, Le Caignec C, David A
Am J Med Genet A 2007 Aug 15;143A(16):1919-21. doi: 10.1002/ajmg.a.31854. PMID: 17632779
Bayar A, Acun C, Dursun A, Verhoeven N, Bonafé L, Keser S, Superti-Furga A
Clin Dysmorphol 2005 Jan;14(1):7-11. PMID: 15602086

Clinical prediction guides

Munoz J, Rodière M, Jeremiah N, Rieux-Laucat F, Oojageer A, Rice GI, Rozenberg F, Crow YJ, Bessis D
JAMA Dermatol 2015 Aug;151(8):872-7. doi: 10.1001/jamadermatol.2015.0251. PMID: 25992765
Nelson CP, Schunkert H, Samani NJ, Erridge C
Arterioscler Thromb Vasc Biol 2015 Jun;35(6):1456-62. Epub 2015 Apr 16 doi: 10.1161/ATVBAHA.114.304925. [Epub ahead of print] PMID: 25882064
Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B, Baskar K, Baskar S, Baudouin V, Beresford MW, Black GC, Dearman RJ, de Zegher F, Foster ES, Francès C, Hayman AR, Hilton E, Job-Deslandre C, Kulkarni ML, Le Merrer M, Linglart A, Lovell SC, Maurer K, Musset L, Navarro V, Picard C, Puel A, Rieux-Laucat F, Roifman CM, Scholl-Bürgi S, Smith N, Szynkiewicz M, Wiedeman A, Wouters C, Zeef LA, Casanova JL, Elkon KB, Janckila A, Lebon P, Crow YJ
Nat Genet 2011 Feb;43(2):127-31. Epub 2011 Jan 9 doi: 10.1038/ng.748. [Epub ahead of print] PMID: 21217755Free PMC Article
Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafé L, Giedion A, Unger S, Superti-Furga A
Am J Med Genet A 2006 Mar 15;140(6):541-50. doi: 10.1002/ajmg.a.31081. PMID: 16470600
Frydman M, Bar-Ziv J, Preminger-Shapiro R, Brezner A, Brand N, Ben-Ami T, Lachman RS, Gruber HE, Rimoin DL
Am J Med Genet 1990 Jul;36(3):279-84. doi: 10.1002/ajmg.1320360306. PMID: 2363422

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