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Spondyloepiphyseal dysplasia with metatarsal shortening

MedGen UID:
324580
Concept ID:
C1836683
Congenital Abnormality
Synonyms: Czech dysplasia, metatarsal type; Pseudorheumatoid dysplasia progressive, with hypoplastic toes; SPONDYLOEPIPHYSEAL DYSPLASIA WITH PRECOCIOUS OSTEOARTHRITIS
SNOMED CT: Czech dysplasia metatarsal type (720826006)
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): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0012206
OMIM®: 609162
Orphanet: ORPHA137678

Definition

Czech dysplasia is an autosomal dominant skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes (Marik et al., 2004; Kozlowski et al., 2004). [from OMIM]

Additional description

From MedlinePlus Genetics
Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. People with this condition typically have joint pain that begins in late childhood or adolescence. The cartilage in their hips, knees, shoulders, and spine usually degenerates over time (osteoarthritis), which may impair their mobility. Due to these severe joint problems, people with SED with metatarsal shortening may require joint replacement in early adulthood.

People with SED with metatarsal shortening often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may also have abnormalities in the bones of the spine (vertebrae), including flattened vertebrae (platyspondyly), a reduction in the space between the vertebrae, or an abnormal spinal curvature. Some people with SED with metatarsal shortening have progressive hearing loss.  https://medlineplus.gov/genetics/condition/spondyloepiphyseal-dysplasia-with-metatarsal-shortening

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Narrow femoral neck
MedGen UID:
350962
Concept ID:
C1863739
Finding
An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
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.
Growth abnormality
MedGen UID:
808205
Concept ID:
C0262361
Finding
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.
Osteochondroma
MedGen UID:
10496
Concept ID:
C0029423
Neoplastic Process
A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Intervertebral space narrowing
MedGen UID:
78101
Concept ID:
C0263870
Finding
Decreased height of the intervertebral disk.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Thoracic kyphosis
MedGen UID:
263148
Concept ID:
C1184919
Finding
Over curvature of the thoracic region, leading to a round back or if sever to a hump.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Narrow iliac wing
MedGen UID:
373150
Concept ID:
C1836688
Finding
Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Flat capital femoral epiphysis
MedGen UID:
334001
Concept ID:
C1842155
Finding
An abnormal flattening of the proximal epiphysis of the femur.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Limitation of joint mobility
MedGen UID:
341696
Concept ID:
C1857108
Finding
A reduction in the freedom of movement of one or more joints.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepiphyseal dysplasia with metatarsal shortening
Follow this link to review classifications for Spondyloepiphyseal dysplasia with metatarsal shortening in Orphanet.

Professional guidelines

PubMed

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522

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