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Spondylometaphyseal dysplasia, Schmidt type

MedGen UID:
356595
Concept ID:
C1866688
Disease or Syndrome
Synonyms: Japanese type spondylometaphyseal dysplasia; Schmid metaphyseal dysostosis; Spondylometaphyseal dysplasia Algerian type; Spondylometaphyseal dysplasia with severe genu valgum
SNOMED CT: Spondylometaphyseal dysplasia Schmidt type (719304005); Spondylometaphyseal dysplasia with severe genu valgum (719304005); Spondylometaphyseal dysplasia Algerian type (719304005)
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.
 
Monarch Initiative: MONDO:0008478
OMIM®: 184253
Orphanet: ORPHA93316

Definition

Spondylometaphyseal dysplasia, Schmidt type has characteristics of short stature, myopia, small pelvis, progressive kyphoscoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. This condition has been reported in five members of an Algerian family and one Polish boy. Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified. [from SNOMEDCT_US]

Clinical features

From HPO
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.
Hypoplasia of proximal radius
MedGen UID:
395274
Concept ID:
C1859477
Anatomical Abnormality
Proximal radial shortening owing to a congenital defect of development.
Carpal bone hypoplasia
MedGen UID:
355049
Concept ID:
C1863749
Finding
Underdevelopment of one or more carpal bones.
Short tubular bones of the hand
MedGen UID:
871307
Concept ID:
C4025795
Finding
Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals.
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.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Lumbar hyperlordosis
MedGen UID:
263149
Concept ID:
C1184923
Finding
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Anterior rib cupping
MedGen UID:
337520
Concept ID:
C1846154
Finding
Wide, concave anterior rib end.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Bowed humerus
MedGen UID:
395269
Concept ID:
C1859460
Finding
A bending or abnormal curvature of the humerus.
Short greater sciatic notch
MedGen UID:
401058
Concept ID:
C1866689
Finding
The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
Tibial metaphyseal irregularity
MedGen UID:
868142
Concept ID:
C4022533
Anatomical Abnormality
Irregularity of the normally smooth surface of a metaphysis of a tibia.
Flared femoral metaphysis
MedGen UID:
871197
Concept ID:
C4025674
Anatomical Abnormality
Spondylometaphyseal dysplasia
MedGen UID:
1674850
Concept ID:
C4759767
Disease or Syndrome
A heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. Characteristics are platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localisation and severity of involvement of the affected metaphyses.
Metaphyseal dysplasia
MedGen UID:
1677924
Concept ID:
C5194606
Disease or Syndrome
The presence of dysplastic regions in metaphyseal regions.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondylometaphyseal dysplasia, Schmidt type
Follow this link to review classifications for Spondylometaphyseal dysplasia, Schmidt type in Orphanet.

Recent clinical studies

Etiology

Verloes A, Lepage P, Baumann C, Maroteaux P, Merrer ML
Am J Med Genet 2002 Dec 15;113(4):362-6. doi: 10.1002/ajmg.b.10738. PMID: 12457408

Diagnosis

Cheff DM, Muotri AR, Stockwell BR, Schmidt EE, Ran Q, Kartha RV, Johnson SC, Mittal P, Arnér ESJ, Wigby KM, Hall MD, Ramesh SK
Orphanet J Rare Dis 2021 Oct 23;16(1):446. doi: 10.1186/s13023-021-02048-0. PMID: 34688299Free PMC Article
Verloes A, Lepage P, Baumann C, Maroteaux P, Merrer ML
Am J Med Genet 2002 Dec 15;113(4):362-6. doi: 10.1002/ajmg.b.10738. PMID: 12457408

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