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Spondylometaepiphyseal dysplasia short limb-hand type(SMED-SL)

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
Synonyms: Smed short limb-abnormal calcification type; SMED short limb-hand type; SMED type 2; SMED, TYPE II; SMED-SL; SMED-SL/AC; Spondylometaepiphyseal dysplasia short limb-abnormal calcification type
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): DDR2 (1q23.3)
OMIM®: 271665
Orphanet: ORPHA93358

Clinical features

Disproportionate short-limb short stature
MedGen UID:
426028
Concept ID:
CN007806
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Abnormality of the neck
MedGen UID:
424994
Concept ID:
CN000433
Finding
An abnormality of the neck.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Short nose
MedGen UID:
505478
Concept ID:
CN002885
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Depressed nasal bridge
MedGen UID:
446656
Concept ID:
CN004681
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
Hypertelorism
MedGen UID:
504419
Concept ID:
CN000296
Finding
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Global developmental delay
MedGen UID:
504774
Concept ID:
CN001157
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Spinal cord compression
MedGen UID:
505142
Concept ID:
CN001973
Finding
External mechanical compression of the spinal cord.
Syringomyelia
MedGen UID:
505531
Concept ID:
CN003064
Finding
Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord.
Calcification of falx cerebri
MedGen UID:
505810
Concept ID:
CN004841
Finding
The presence of calcium deposition in the falx cerebri.
Posterior rib cupping
MedGen UID:
325182
Concept ID:
C1837483
Finding
Broad metacarpals
MedGen UID:
330796
Concept ID:
C1842229
Finding
Bell-shaped thorax
MedGen UID:
375259
Concept ID:
C1843692
Finding
Anterior rib cupping
MedGen UID:
337520
Concept ID:
C1846154
Finding
Long fibula
MedGen UID:
338386
Concept ID:
C1848109
Finding
C1-C2 subluxation
MedGen UID:
376359
Concept ID:
C1848446
Finding
Malar flattening
MedGen UID:
347814
Concept ID:
C1859168
Finding
Spondyloepimetaphyseal dysplasia
MedGen UID:
350961
Concept ID:
C1863733
Finding
Platyspondyly
MedGen UID:
355353
Concept ID:
C1865023
Finding
Flared iliac wings
MedGen UID:
356097
Concept ID:
C1865841
Finding
Micrognathia
MedGen UID:
401012
Concept ID:
C1866485
Finding
Progressive calcification of costochondral cartilage
MedGen UID:
368474
Concept ID:
C1968577
Finding
Abnormal calcification of the carpal bones
MedGen UID:
368481
Concept ID:
C1968592
Finding
Pectus excavatum
MedGen UID:
504591
Concept ID:
CN000721
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Short ribs
MedGen UID:
500894
Concept ID:
CN000727
Finding
Reduced rib length.
Metatarsus adductus
MedGen UID:
504970
Concept ID:
CN001665
Finding
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Frontal bossing
MedGen UID:
505049
Concept ID:
CN001816
Finding
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Scoliosis
MedGen UID:
427922
Concept ID:
CN002409
Finding
The presence of an abnormal lateral curvature of the spine.
Tracheal calcification
MedGen UID:
505355
Concept ID:
CN002521
Finding
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Bowing of the legs
MedGen UID:
505427
Concept ID:
CN002695
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Elbow flexion contracture
MedGen UID:
500945
Concept ID:
CN002703
Finding
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Flared metaphysis
MedGen UID:
500946
Concept ID:
CN002726
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Short long bone
MedGen UID:
832972
Concept ID:
CN002735
Finding
One or more abnormally short long bone.
Hypoplasia of the odontoid process
MedGen UID:
500949
Concept ID:
CN002987
Finding
Developmental hypoplasia of the dens of the axis.
Atlantoaxial instability
MedGen UID:
505543
Concept ID:
CN003127
Finding
Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
Thoracic hypoplasia
MedGen UID:
505783
Concept ID:
CN004660
Finding
Calcification of falx cerebri
MedGen UID:
505810
Concept ID:
CN004841
Finding
The presence of calcium deposition in the falx cerebri.
Broad phalanx
MedGen UID:
501003
Concept ID:
CN005292
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Knee flexion contracture
MedGen UID:
501016
Concept ID:
CN005557
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Triangular shaped distal phalanges of the hand
MedGen UID:
429035
Concept ID:
CN008715
Finding
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Epiphyseal stippling
MedGen UID:
429599
Concept ID:
CN009481
Finding
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Hip Subluxation
MedGen UID:
830616
Concept ID:
CN218479
Finding
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Restrictive lung disease
MedGen UID:
505096
Concept ID:
CN001892
Finding
Tracheal calcification
MedGen UID:
505355
Concept ID:
CN002521
Finding
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Sign or Symptom
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
Elbow flexion contracture
MedGen UID:
500945
Concept ID:
CN002703
Finding
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Knee flexion contracture
MedGen UID:
501016
Concept ID:
CN005557
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Elbow flexion contracture
MedGen UID:
500945
Concept ID:
CN002703
Finding
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Knee flexion contracture
MedGen UID:
501016
Concept ID:
CN005557
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Broad metacarpals
MedGen UID:
330796
Concept ID:
C1842229
Finding
Long fibula
MedGen UID:
338386
Concept ID:
C1848109
Finding
Abnormal calcification of the carpal bones
MedGen UID:
368481
Concept ID:
C1968592
Finding
Metatarsus adductus
MedGen UID:
504970
Concept ID:
CN001665
Finding
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Bowing of the legs
MedGen UID:
505427
Concept ID:
CN002695
Finding
A bending or abnormal curvature affecting a long bone of the leg.
Micromelia
MedGen UID:
505428
Concept ID:
CN002699
Finding
The presence of abnormally small extremities.
Elbow flexion contracture
MedGen UID:
500945
Concept ID:
CN002703
Finding
A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow.
Flared metaphysis
MedGen UID:
500946
Concept ID:
CN002726
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Broad phalanx
MedGen UID:
501003
Concept ID:
CN005292
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Knee flexion contracture
MedGen UID:
501016
Concept ID:
CN005557
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Triangular shaped distal phalanges of the hand
MedGen UID:
429035
Concept ID:
CN008715
Finding
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Hip Subluxation
MedGen UID:
830616
Concept ID:
CN218479
Finding
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGSpondylometaepiphyseal dysplasia short limb-hand type
Follow this link to review classifications for Spondylometaepiphyseal dysplasia short limb-hand type in Orphanet.

Recent clinical studies

Etiology

Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR
BMC Med Genet 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. [Epub ahead of print] PMID: 24725993Free PMC Article

Prognosis

Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR
BMC Med Genet 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. [Epub ahead of print] PMID: 24725993Free PMC Article

Clinical prediction guides

Al-Kindi A, Kizhakkedath P, Xu H, John A, Sayegh AA, Ganesh A, Al-Awadi M, Al-Anbouri L, Al-Gazali L, Leitinger B, Ali BR
BMC Med Genet 2014 Apr 11;15:42. doi: 10.1186/1471-2350-15-42. [Epub ahead of print] PMID: 24725993Free PMC Article

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