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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
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).
 
Gene (location): DDR2 (1q23.3)
OMIM®: 271665
Orphanet: ORPHA93358

Clinical features

Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
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).
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Toeing-in
MedGen UID:
534039
Concept ID:
C0231791
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.
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.
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.
Knee joint - varus deformity
MedGen UID:
154257
Concept ID:
C0544755
Finding
An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).
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.
Splayed metaphyses
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
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
Short limb dwarfism, disproportionate
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
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.
Calcification of falx cerebri
MedGen UID:
237237
Concept ID:
C1397139
Disease or Syndrome
The presence of calcium deposition in the falx cerebri.
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.
Tracheal calcification
MedGen UID:
75539
Concept ID:
C0264324
Disease or Syndrome
Calcification (abnormal deposits of calcium) in the tracheal tissues.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A diminution of the skeletal muscle tone marked 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.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Micromelia
MedGen UID:
10031
Concept ID:
C0025995
Congenital Abnormality
The presence of abnormally small extremities.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Toeing-in
MedGen UID:
534039
Concept ID:
C0231791
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.
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.
Atlantoaxial instability
MedGen UID:
98381
Concept ID:
C0410653
Disease or Syndrome
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.
Short rib
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.
Knee joint - varus deformity
MedGen UID:
154257
Concept ID:
C0544755
Finding
An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
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
Posterior rib cupping
MedGen UID:
325182
Concept ID:
C1837483
Finding
Wide, concave posterior rib end.
Broad metacarpals
MedGen UID:
330796
Concept ID:
C1842229
Finding
Abnormally broad metacarpal bones.
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.
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.
C1-C2 subluxation
MedGen UID:
376359
Concept ID:
C1848446
Finding
A partial dislocation of the atlantoaxial joints.
Splayed metaphyses
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
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.
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.
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).
Bell-shaped thorax
MedGen UID:
351320
Concept ID:
C1865186
Finding
The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, follwed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter.
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
Exophthalmos
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
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).
Congenital micrognathism
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Byzanthine arch palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
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).
Small nose
MedGen UID:
140868
Concept ID:
C0426414
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:
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.
Abnormality of the neck
MedGen UID:
871357
Concept ID:
C4025851
Anatomical Abnormality
An abnormality of the neck.
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.

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