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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, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): DDR2 (1q23.3)
OMIM®: 271665
Orphanet: ORPHA93358

Clinical features

Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
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:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Hip Subluxation
MedGen UID:
140946
Concept ID:
C0434785
Injury or Poisoning
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Broad metacarpals
MedGen UID:
330796
Concept ID:
C1842229
Finding
Abnormally broad metacarpal bones.
Long fibula
MedGen UID:
338386
Concept ID:
C1848109
Finding
Disproportionately long fibulae.
Broad phalanx
MedGen UID:
340809
Concept ID:
C1855185
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Abnormal calcification of the carpal bones
MedGen UID:
368481
Concept ID:
C1968592
Finding
Restrictive ventilatory defect
MedGen UID:
43209
Concept ID:
C0085581
Disease or Syndrome
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
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:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Tracheal calcification
MedGen UID:
75539
Concept ID:
C0264324
Disease or Syndrome
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
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:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Spondyloepimetaphyseal dysplasia
MedGen UID:
609408
Concept ID:
C0432211
Congenital Abnormality
Hip Subluxation
MedGen UID:
140946
Concept ID:
C0434785
Injury or Poisoning
A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Broad metacarpals
MedGen UID:
330796
Concept ID:
C1842229
Finding
Abnormally broad metacarpal bones.
Odontoid hypoplasia
MedGen UID:
339524
Concept ID:
C1846439
Finding
The odontoid process, or dens, is a bony projection from the axis (C2) upward into the ring of the atlas (C1) at the top of the spine. During embryogenesis, the body of the odontoid derives from the centrum of the atlas and separates from the atlas, fusing with the superior portion of the axis. If the odontoid is hypoplastic or absent, the attachments for the apical and alar ligaments are missing, allowing for excessive rotation of the atlas, craniocervical instability, and possibly cord compression (summary by Stevens et al., 2009).
Long fibula
MedGen UID:
338386
Concept ID:
C1848109
Finding
Disproportionately long fibulae.
short long bones
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Broad phalanx
MedGen UID:
340809
Concept ID:
C1855185
Finding
Increased side-to-side width of one or more phalanges of the fingers or toes.
Epiphyseal stippling
MedGen UID:
349104
Concept ID:
C1859126
Anatomical Abnormality
The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses (FMA:24012).
Flared iliac wings
MedGen UID:
356097
Concept ID:
C1865841
Finding
Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
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
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Abnormality of the neck
MedGen UID:
658813
Concept ID:
C0575167
Finding
An abnormality of the neck.
Elbow flexion contracture
MedGen UID:
98367
Concept ID:
C0409338
Acquired Abnormality
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:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondylometaepiphyseal 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. PMID: 24725993Free PMC Article

Diagnosis

Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S
Am J Med Genet A 2016 Feb;170A(2):460-5. Epub 2015 Oct 13 doi: 10.1002/ajmg.a.37426. PMID: 26463668

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. 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. PMID: 24725993Free PMC Article

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