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Spondyloepimetaphyseal dysplasia with multiple dislocations(SEMDJL2)

MedGen UID:
350960
Concept ID:
C1863732
Disease or Syndrome
Synonyms: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, HALL TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, LEPTODACTYLIC TYPE; Spondyloepimetaphyseal dysplasia with joint laxity, type 2; Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type
SNOMED CT: Spondyloepimetaphyseal dysplasia with multiple dislocations (766820007); Spondyloepimetaphyseal dysplasia with joint laxity type 2 (766820007); Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type (766820007); Spondyloepimetaphyseal dysplasia with joint laxity Hall type (766820007); Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type (766820007)
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.
 
Gene (location): KIF22 (16p11.2)
 
Monarch Initiative: MONDO:0011335
OMIM®: 603546
Orphanet: ORPHA93360

Definition

Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640). [from OMIM]

Clinical features

From HPO
Dislocated radial head
MedGen UID:
488814
Concept ID:
C0265563
Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
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.
Broad distal phalanx of finger
MedGen UID:
342551
Concept ID:
C1850630
Finding
Abnormally wide (broad) distal phalanx of finger.
Narrow femoral neck
MedGen UID:
350962
Concept ID:
C1863739
Finding
An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Carpal bone hypoplasia
MedGen UID:
355049
Concept ID:
C1863749
Finding
Underdevelopment of one or more carpal bones.
Long distal phalanx of finger
MedGen UID:
867486
Concept ID:
C4021865
Anatomical Abnormality
Increased length of the distal phalanx of finger.
Slender proximal phalanx of finger
MedGen UID:
868562
Concept ID:
C4022961
Anatomical Abnormality
Reduced diameter of the proximal phalanx of finger.
Slender distal phalanx of finger
MedGen UID:
868563
Concept ID:
C4022962
Finding
Reduced diameter of the distal phalanx of finger.
Long proximal phalanx of finger
MedGen UID:
870638
Concept ID:
C4025090
Anatomical Abnormality
Increased length of the proximal phalanx of finger.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Spinal dysraphism
MedGen UID:
87487
Concept ID:
C0344479
Congenital Abnormality
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
Congenital hip dislocation
MedGen UID:
9258
Concept ID:
C0019555
Disease or Syndrome
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Spondyloepimetaphyseal dysplasia
MedGen UID:
609408
Concept ID:
C0432211
Disease or Syndrome
An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.
Metaphyseal irregularity
MedGen UID:
325478
Concept ID:
C1838662
Finding
Irregularity of the normally smooth surface of the metaphyses.
Hypoplasia of the capital femoral epiphysis
MedGen UID:
374176
Concept ID:
C1839254
Finding
Underdevelopment of the proximal epiphysis of the femur.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Flat capital femoral epiphysis
MedGen UID:
334001
Concept ID:
C1842155
Finding
An abnormal flattening of the proximal epiphysis of the femur.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Irregular epiphyses
MedGen UID:
337584
Concept ID:
C1846449
Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses
MedGen UID:
339612
Concept ID:
C1846803
Finding
Reduction in the size or volume of epiphyses.
Flared metaphysis
MedGen UID:
337976
Concept ID:
C1850135
Finding
The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.
Posterior scalloping of vertebral bodies
MedGen UID:
337993
Concept ID:
C1850196
Finding
An excessive concavity of the posterior surface of one or more vertebral bodies.
Flattened epiphysis
MedGen UID:
387844
Concept ID:
C1857527
Finding
Abnormal flatness (decreased height) of epiphyses.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Caudal interpedicular narrowing
MedGen UID:
350247
Concept ID:
C1863734
Finding
Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine.
Delayed patellar ossification
MedGen UID:
867238
Concept ID:
C4021597
Finding
Formation of bone in the patella later than normal.
Delayed phalangeal epiphyseal ossification
MedGen UID:
867249
Concept ID:
C4021609
Finding
Delay in the process of formation and maturation of the epiphysis of one or more phalanx.
Streaky metaphyseal sclerosis
MedGen UID:
870796
Concept ID:
C4025253
Finding
The presence of streaks (bands) of abnormally increased density of metaphyseal bone.
Large joint dislocations
MedGen UID:
870803
Concept ID:
C4025260
Injury or Poisoning
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Soft skin
MedGen UID:
336730
Concept ID:
C1844592
Finding
Subjective impression of increased softness upon palpation of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepimetaphyseal dysplasia with multiple dislocations
Follow this link to review classifications for Spondyloepimetaphyseal dysplasia with multiple dislocations in Orphanet.

Recent clinical studies

Etiology

Park SM, Hall CM, Gray R, Firth HV
Am J Med Genet A 2007 Sep 1;143A(17):2024-8. doi: 10.1002/ajmg.a.31857. PMID: 17676604

Diagnosis

Park SM, Hall CM, Gray R, Firth HV
Am J Med Genet A 2007 Sep 1;143A(17):2024-8. doi: 10.1002/ajmg.a.31857. PMID: 17676604
Mégarbané A, Ghanem I, Le Merrer M
Am J Med Genet A 2003 Oct 15;122A(3):252-6. doi: 10.1002/ajmg.a.20262. PMID: 12966527
Hall CM, Elçioglu NH, Shaw DG
J Med Genet 1998 Jul;35(7):566-72. doi: 10.1136/jmg.35.7.566. PMID: 9678701Free PMC Article

Prognosis

Nishimura G, Honma T, Shiihara T, Manabe N, Nakajima E, Adachi M, Mikawa M, Fukushima Y, Ikegawa S
Am J Med Genet A 2003 Mar 1;117A(2):147-53. doi: 10.1002/ajmg.a.10927. PMID: 12567412

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