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Spondyloepimetaphyseal dysplasia, matrilin-3 type(SEMDBCD)

MedGen UID:
325181
Concept ID:
C1837481
Disease or Syndrome
Synonyms: SEMD, MATN3-RELATED; SEMDBCD; Spondyloepimetaphyseal dysplasia Matrilin-3 related; Spondyloepimetaphyseal dysplasia, MATN3-related
SNOMED CT: Spondyloepimetaphyseal dysplasia matrilin-3 type (719166003)
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): MATN3 (2p24.1)
 
Monarch Initiative: MONDO:0012108
OMIM®: 608728
Orphanet: ORPHA156728

Definition

The Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is a rare type of autosomal recessive short-limb short-trunk dwarfism. Affected individuals have significant short stature with pronounced leg bowing, lumbar lordosis, and a waddling gait (summary by Borochowitz et al., 2004 and Shyamasundar et al., 2020). [from OMIM]

Clinical features

From HPO
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Limited elbow extension
MedGen UID:
401158
Concept ID:
C1867103
Finding
Limited ability to straighten the arm at the elbow joint.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
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.
Spondyloepimetaphyseal dysplasia
MedGen UID:
609408
Concept ID:
C0432211
Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Narrow greater sciatic notch
MedGen UID:
154353
Concept ID:
C0566888
Finding
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Metaphyseal spurs
MedGen UID:
318762
Concept ID:
C1832988
Finding
Bony outgrowths that extend laterally from the margin of the metaphysis.
Thoracic hypoplasia
MedGen UID:
373339
Concept ID:
C1837482
Congenital Abnormality
Posterior rib cupping
MedGen UID:
325182
Concept ID:
C1837483
Finding
Wide, concave posterior rib end.
Dysplastic iliac wing
MedGen UID:
373341
Concept ID:
C1837487
Congenital Abnormality
A general term that describes a congenital defect in the iliac wing resulting from abnormal development.
Squared iliac bones
MedGen UID:
324963
Concept ID:
C1838186
Finding
A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Irregular epiphyses
MedGen UID:
337584
Concept ID:
C1846449
Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses
MedGen UID:
339612
Concept ID:
C1846803
Finding
Reduction in the size or volume of epiphyses.
Metaphyseal widening
MedGen UID:
341364
Concept ID:
C1849039
Finding
Abnormal widening of the metaphyseal regions of long bones.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Ovoid vertebral bodies
MedGen UID:
344549
Concept ID:
C1855665
Finding
When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval.
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Hypoplastic pubic bone
MedGen UID:
355894
Concept ID:
C1865030
Finding
Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Bowing of the legs
MedGen UID:
1807399
Concept ID:
C5574706
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepimetaphyseal dysplasia, matrilin-3 type
Follow this link to review classifications for Spondyloepimetaphyseal dysplasia, matrilin-3 type in Orphanet.

Recent clinical studies

Diagnosis

Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A
Am J Med Genet A 2013 Oct;161A(10):2645-51. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36132. PMID: 23956136

Prognosis

Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A
Am J Med Genet A 2013 Oct;161A(10):2645-51. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36132. PMID: 23956136

Clinical prediction guides

Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A
Am J Med Genet A 2013 Oct;161A(10):2645-51. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36132. PMID: 23956136

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