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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

Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Proptosis
MedGen UID:
350667
Concept ID:
C1862425
Finding
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Flexion contracture - elbow
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.
Bowing of the legs
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.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
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.
Widened phalanges
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
Triangular shaped distal phalanges of the hand
MedGen UID:
869747
Concept ID:
C4024176
Anatomical Abnormality
Spinal cord compression
MedGen UID:
11549
Concept ID:
C0037926
Disease or Syndrome
External mechanical compression of the spinal cord.
Syringomyelia
MedGen UID:
21449
Concept ID:
C0039144
Disease or Syndrome
Syringomyelia is a rare disorder that causes a cyst to form in your spinal cord. This cyst, called a syrinx, gets bigger and longer over time, destroying part of the spinal cord. Damage to the spinal cord from the syrinx can cause symptoms such as . -Pain and weakness in the back, shoulders, arms or legs. -Headaches. -Inability to feel hot or cold. Symptoms vary according to the size and location of the syrinx. They often begin in early adulthood. . Syringomyelia usually results from a skull abnormality called a Chiari I malformation. A tumor, meningitis or physical trauma can also cause it. Surgery is the main treatment. Some people also need to have the syrinx drained. Medicines can help ease pain. In some cases, there are no symptoms, so you may not need treatment.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
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.
Flexion contracture - elbow
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.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Tracheal calcification
MedGen UID:
75539
Concept ID:
C0264324
Disease or Syndrome
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Flexion contracture - elbow
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.
Flexion contracture of the knee
MedGen UID:
98042
Concept ID:
C0409355
Finding
A bent (flexed) knee joint that cannot be straightened actively or passively.
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.
Bowing of the legs
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.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Congenital Abnormality
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Thoracic hypoplasia
MedGen UID:
373339
Concept ID:
C1837482
Congenital Abnormality
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.
short long bones
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Widened phalanges
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
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest (\
Triangular shaped distal phalanges of the hand
MedGen UID:
869747
Concept ID:
C4024176
Anatomical Abnormality
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Deformity of neck
MedGen UID:
658813
Concept ID:
C0575167
Finding
An abnormality of the neck.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Hypoplasia of midface
MedGen UID:
388629
Concept ID:
C2673410
Finding
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Flexion contracture - elbow
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.
Flexion contracture of the knee
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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