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Metaphyseal chondrodysplasia, Schmid type(MCDS)

MedGen UID:
78550
Concept ID:
C0265289
Disease or Syndrome
Synonyms: MCDS; SPONDYLOMETAPHYSEAL DYSPLASIA, JAPANESE TYPE
SNOMED CT: Metaphyseal chondrodysplasia, Schmid type (29248006); Metaphyseal dysplasia, Schmid type (29248006)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): COL10A1 (6q22.1)
 
Monarch Initiative: MONDO:0007983
OMIM®: 156500
Orphanet: ORPHA174

Disease characteristics

Excerpted from the GeneReview: Schmid Metaphyseal Chondrodysplasia
Schmid metaphyseal chondrodysplasia (SMCD) is characterized by progressive short stature that develops by age two years. The clinical and radiographic features are usually not present at birth, but manifest in early childhood with short limbs, genu varum, and waddling gait. Facial features and head size are normal. Radiographs show metaphyseal irregularities of the long bones (e.g., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs. Mild hand involvement often includes shortening of the tubular bones and metaphyseal cupping of the metacarpals and proximal phalanges. Platyspondyly and vertebral end-plate irregularities are less common. Hand and vertebral involvement can resolve with age. Early motor milestones may be delayed due to orthopedic complications. Intelligence is normal. Joint pain in the knees and hips is common and may limit physical activity. Adult height is typically more than 3.5 SD below the mean, although a wide spectrum that overlaps normal height has been reported. There are no extraskeletal manifestations. [from GeneReviews]
Authors:
Christopher Mark Richmond  |  Ravi Savarirayan   view full author information

Additional description

From OMIM
Schmid-type metaphyseal chondrodysplasia (MCDS) is characterized by short stature and bowing of the long bones; radiographic features include widening and irregularity of the growth plates, especially in the distal and proximal femora (summary by Makitie et al., 2005).  http://www.omim.org/entry/156500

Clinical features

From HPO
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
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.
Irregular acetabular roof
MedGen UID:
331872
Concept ID:
C1834975
Finding
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Short middle phalanx of finger
MedGen UID:
337690
Concept ID:
C1846950
Finding
Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.
Broad femoral neck
MedGen UID:
376496
Concept ID:
C1849016
Finding
An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Broad middle phalanx of finger
MedGen UID:
867025
Concept ID:
C4021383
Anatomical Abnormality
Increased width of the middle phalanx of finger.
Distal tibial bowing
MedGen UID:
867239
Concept ID:
C4021598
Anatomical Abnormality
A bending or abnormal curvature of the distal portion of the tibia.
Proximal femoral metaphyseal abnormality
MedGen UID:
870598
Concept ID:
C4025047
Anatomical Abnormality
An anomaly of the metaphysis of the proximal femur (close to the hip).
Coxa vara
MedGen UID:
1790477
Concept ID:
C5551440
Anatomical Abnormality
Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.
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).
Proportionate short stature
MedGen UID:
163901
Concept ID:
C0878660
Finding
A kind of short stature in which different regions of the body are shortened to a comparable extent.
Mild short stature
MedGen UID:
461427
Concept ID:
C3150077
Finding
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Metaphyseal cupping of proximal phalanges
MedGen UID:
331874
Concept ID:
C1834980
Finding
Metaphyseal cupping affecting the proximal phalanges.
Metaphyseal irregularity
MedGen UID:
325478
Concept ID:
C1838662
Finding
Irregularity of the normally smooth surface of the metaphyses.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Metaphyseal cupping of metacarpals
MedGen UID:
343284
Concept ID:
C1855171
Finding
Metaphyseal cupping affecting the metacarpal bones.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Enlargement of the proximal femoral epiphysis
MedGen UID:
347210
Concept ID:
C1859697
Finding
An abnormal enlargement of the proximal epiphysis of the femur.
Metaphyseal sclerosis
MedGen UID:
765440
Concept ID:
C3552526
Finding
Abnormally increased density of metaphyseal bone.

Term Hierarchy

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

Recent clinical studies

Etiology

Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M
Bone 2023 Feb;167:116614. Epub 2022 Nov 15 doi: 10.1016/j.bone.2022.116614. PMID: 36400164
Hu X, Zhang X, Li Y, Lou P, Li X, Jiang L
Clin Lab 2015;61(3-4):227-33. doi: 10.7754/clin.lab.2014.140916. PMID: 25974987
Stevens PM, Novais EN
J Pediatr Orthop 2012 Sep;32(6):626-30. doi: 10.1097/BPO.0b013e3182567a79. PMID: 22892627
Woelfle JV, Brenner RE, Zabel B, Reichel H, Nelitz M
J Orthop Sci 2011 Mar;16(2):245-9. Epub 2011 Mar 2 doi: 10.1007/s00776-011-0021-y. PMID: 21360259

Diagnosis

Sabir AH, Cole T
Orphanet J Rare Dis 2019 Dec 30;14(1):300. doi: 10.1186/s13023-019-1222-2. PMID: 31888683Free PMC Article
Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q
BMC Med Genet 2019 Dec 19;20(1):200. doi: 10.1186/s12881-019-0937-1. PMID: 31856751Free PMC Article
Park H, Hong S, Cho SI, Cho TJ, Choi IH, Jin DK, Sohn YB, Park SW, Cho HH, Cheon JE, Kim SY, Kim JY, Park SS, Seong MW
Eur J Med Genet 2015 Mar;58(3):175-9. Epub 2014 Dec 24 doi: 10.1016/j.ejmg.2014.12.011. PMID: 25542771
Lachman RS, Rimoin DL, Spranger J
Pediatr Radiol 1988;18(2):93-102. doi: 10.1007/BF02387549. PMID: 3281118
Gellis SS, Feingold M, Pavone L, Mollica F, Sorge G
Am J Dis Child 1980 Jul;134(7):699-700. PMID: 7395832

Therapy

Boot-Handford RP
Int J Exp Pathol 2019 Feb;100(1):4-11. Epub 2019 Mar 26 doi: 10.1111/iep.12311. PMID: 30912609Free PMC Article
Forouhan M, Sonntag S, Boot-Handford RP
Hum Mol Genet 2018 Nov 15;27(22):3840-3853. doi: 10.1093/hmg/ddy253. PMID: 30010889Free PMC Article

Prognosis

Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M
Bone 2023 Feb;167:116614. Epub 2022 Nov 15 doi: 10.1016/j.bone.2022.116614. PMID: 36400164
Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, Fang L, Jiang X, Zhao J, Wang Y, Xu C
Mol Genet Genomic Med 2021 May;9(5):e1668. Epub 2021 Mar 25 doi: 10.1002/mgg3.1668. PMID: 33764685Free PMC Article
Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q
BMC Med Genet 2019 Dec 19;20(1):200. doi: 10.1186/s12881-019-0937-1. PMID: 31856751Free PMC Article
Ain NU, Makitie O, Naz S
J Med Genet 2018 Jun;55(6):403-407. Epub 2017 Aug 22 doi: 10.1136/jmedgenet-2017-104885. PMID: 28830906
Stevens PM, Novais EN
J Pediatr Orthop 2012 Sep;32(6):626-30. doi: 10.1097/BPO.0b013e3182567a79. PMID: 22892627

Clinical prediction guides

Tüysüz B, Kasap B, Sarıtaş M, Alkaya DU, Bozlak S, Kıykım A, Durmaz A, Yıldırım T, Akpınar E, Apak H, Vural M
Bone 2023 Feb;167:116614. Epub 2022 Nov 15 doi: 10.1016/j.bone.2022.116614. PMID: 36400164
Wu H, Wang S, Li G, Yao Y, Wang N, Sun X, Fang L, Jiang X, Zhao J, Wang Y, Xu C
Mol Genet Genomic Med 2021 May;9(5):e1668. Epub 2021 Mar 25 doi: 10.1002/mgg3.1668. PMID: 33764685Free PMC Article
Kong L, Shi L, Wang W, Zuo R, Wang M, Kang Q
BMC Med Genet 2019 Dec 19;20(1):200. doi: 10.1186/s12881-019-0937-1. PMID: 31856751Free PMC Article
Ain NU, Makitie O, Naz S
J Med Genet 2018 Jun;55(6):403-407. Epub 2017 Aug 22 doi: 10.1136/jmedgenet-2017-104885. PMID: 28830906

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