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Spondyloepimetaphyseal dysplasia, Maroteaux type

MedGen UID:
463613
Concept ID:
C3159322
Disease or Syndrome
Synonyms: PSEUDO-MORQUIO SYNDROME, TYPE 2; SED, Maroteaux type; Spondyloepiphyseal dysplasia Maroteaux type
SNOMED CT: Spondyloepiphyseal dysplasia Maroteaux type (719204007); Pseudo-Morquio syndrome type 2 (719204007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): TRPV4 (12q24.11)
 
Monarch Initiative: MONDO:0008473
OMIM®: 184095
Orphanet: ORPHA263482

Disease characteristics

Excerpted from the GeneReview: Autosomal Dominant TRPV4 Disorders
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias. [from GeneReviews]
Authors:
Brett A McCray  |  Alice Schindler  |  Julie E Hoover-Fong, et. al.   view full author information

Clinical features

From HPO
Mucopolysacchariduria
MedGen UID:
870284
Concept ID:
C4024726
Finding
Excessive amounts of mucopolysaccharide in the urine.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
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.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
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).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Spondyloepiphyseal dysplasia
MedGen UID:
20916
Concept ID:
C0038015
Finding
A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
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.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Shield chest
MedGen UID:
322348
Concept ID:
C1834124
Finding
A broad chest.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Generalized osteoporosis
MedGen UID:
1639139
Concept ID:
C4551680
Disease or Syndrome
Small joint hypermobilty
MedGen UID:
1053068
Concept ID:
CN376458
Finding
The capability that a small joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Small joints include metacarpophalangeal joints, proximal interphalangeal joints, \nsecond to fifth metatarsophalangeal joints, and wrists.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Opacification of the corneal stroma
MedGen UID:
602191
Concept ID:
C0423250
Finding
Reduced transparency of the stroma of cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepimetaphyseal dysplasia, Maroteaux type

Recent clinical studies

Diagnosis

Uzman CY, Çankaya T, Güleryüz H, Ülgenalp A, Bozkaya ÖG
Skeletal Radiol 2023 Jan;52(1):115-118. Epub 2022 Jul 1 doi: 10.1007/s00256-022-04105-6. PMID: 35776137
Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S
Am J Med Genet A 2012 Apr;158A(4):795-802. Epub 2012 Mar 14 doi: 10.1002/ajmg.a.35268. PMID: 22419508
Fryns JP, Lorenzetti ME, Maroteaux P, Van den Berghe H
Am J Med Genet 1996 Jan 11;61(2):164-7. doi: 10.1002/(SICI)1096-8628(19960111)61:2<164::AID-AJMG12>3.0.CO;2-S. PMID: 8669445

Prognosis

Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S
Am J Med Genet A 2012 Apr;158A(4):795-802. Epub 2012 Mar 14 doi: 10.1002/ajmg.a.35268. PMID: 22419508

Clinical prediction guides

Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S
Am J Med Genet A 2012 Apr;158A(4):795-802. Epub 2012 Mar 14 doi: 10.1002/ajmg.a.35268. PMID: 22419508

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