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Metaphyseal chondrodysplasia, Spahr type(MDST)

MedGen UID:
140928
Concept ID:
C0432225
Disease or Syndrome
Synonym: MDST
SNOMED CT: Metaphyseal chondrodysplasia, Spahr type (254084008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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).
 
Gene (location): MMP13 (11q22.2)
 
Monarch Initiative: MONDO:0009597
OMIM®: 250400
Orphanet: ORPHA2501

Definition

A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated. [from ORDO]

Clinical features

From HPO
Knee pain
MedGen UID:
65421
Concept ID:
C0231749
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Short lower limbs
MedGen UID:
98100
Concept ID:
C0426901
Finding
Shortening of the legs related to developmental hypoplasia of the bones of the leg.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Disproportionate short stature
MedGen UID:
168053
Concept ID:
C0878659
Finding
A kind of short stature in which different regions of the body are shortened to differing extents.
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Osteochondritis dissecans
MedGen UID:
10494
Concept ID:
C0029421
Disease or Syndrome
A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.
Metaphyseal chondrodysplasia
MedGen UID:
120528
Concept ID:
C0265290
Congenital Abnormality
An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Progressive leg bowing
MedGen UID:
381580
Concept ID:
C1855191
Finding
Progressive bending or abnormal curvature of the leg.
Metaphyseal sclerosis
MedGen UID:
765440
Concept ID:
C3552526
Finding
Abnormally increased density of metaphyseal bone.
Metaphyseal dysplasia
MedGen UID:
1677924
Concept ID:
C5194606
Disease or Syndrome
The presence of dysplastic regions in metaphyseal regions.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMetaphyseal chondrodysplasia, Spahr type
Follow this link to review classifications for Metaphyseal chondrodysplasia, Spahr type in Orphanet.

Professional guidelines

PubMed

Klemetti P, Valta H, Kostjukovits S, Taskinen M, Toiviainen-Salo S, Mäkitie O
Clin Genet 2017 Aug;92(2):204-207. Epub 2017 Mar 19 doi: 10.1111/cge.12969. PMID: 28094436

Recent clinical studies

Etiology

Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR
BMJ Case Rep 2019 Aug 13;12(8) doi: 10.1136/bcr-2019-230257. PMID: 31413057Free PMC Article
Klemetti P, Valta H, Kostjukovits S, Taskinen M, Toiviainen-Salo S, Mäkitie O
Clin Genet 2017 Aug;92(2):204-207. Epub 2017 Mar 19 doi: 10.1111/cge.12969. PMID: 28094436

Diagnosis

Balasubramaniyan M, Kaur A, Sinha A, Gopinathan NR
BMJ Case Rep 2019 Aug 13;12(8) doi: 10.1136/bcr-2019-230257. PMID: 31413057Free PMC Article
Klemetti P, Valta H, Kostjukovits S, Taskinen M, Toiviainen-Salo S, Mäkitie O
Clin Genet 2017 Aug;92(2):204-207. Epub 2017 Mar 19 doi: 10.1111/cge.12969. PMID: 28094436

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