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Spondyloepiphyseal dysplasia tarda, autosomal recessive

MedGen UID:
338604
Concept ID:
C1849054
Disease or Syndrome
Synonym: Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
 
Monarch Initiative: MONDO:0010072
OMIM®: 271600

Definition

Autosomal recessive form of spondyloepiphyseal dysplasia tarda. [from MONDO]

Clinical features

From HPO
Flattened metacarpal heads
MedGen UID:
868729
Concept ID:
C4023134
Anatomical Abnormality
Abnormally flat shape of the heads of the metacarpal bones.
Flattened metatarsal heads
MedGen UID:
870783
Concept ID:
C4025240
Anatomical Abnormality
Abnormally flat shape of the heads of the metatarsal bones.
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).
Osteoarthritis
MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Osteoarthritis, hip
MedGen UID:
14530
Concept ID:
C0029410
Disease or Syndrome
Osteoarthritis of the hip joint.
Spondyloepiphyseal dysplasia
MedGen UID:
20916
Concept ID:
C0038015
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.

Recent clinical studies

Diagnosis

Xia XY, Yu J, Li WW, Li N, Wu QY, Zhou X, Cui YX, Li XJ
Genet Mol Res 2014 Apr 29;13(2):3362-70. doi: 10.4238/2014.April.29.15. PMID: 24841781

Prognosis

Xia XY, Yu J, Li WW, Li N, Wu QY, Zhou X, Cui YX, Li XJ
Genet Mol Res 2014 Apr 29;13(2):3362-70. doi: 10.4238/2014.April.29.15. PMID: 24841781

Clinical prediction guides

Xia XY, Yu J, Li WW, Li N, Wu QY, Zhou X, Cui YX, Li XJ
Genet Mol Res 2014 Apr 29;13(2):3362-70. doi: 10.4238/2014.April.29.15. PMID: 24841781

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