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Spondyloepiphyseal dysplasia, Stanescu type(SEDSTN)

MedGen UID:
905084
Concept ID:
C4225273
Disease or Syndrome
Synonyms: SED, STANESCU TYPE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STANESCU TYPE
SNOMED CT: Spondyloepiphyseal dysplasia Stanescu type (1228860003); SED (spondyloepiphyseal dysplasia) Stanescu type (1228860003)
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): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0014701
OMIM®: 616583
Orphanet: ORPHA459051

Definition

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998). [from OMIM]

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
Internal tibial torsion
MedGen UID:
659621
Concept ID:
C0575994
Finding
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).
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
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).
Trismus
MedGen UID:
21671
Concept ID:
C0041105
Disease or Syndrome
Limitation in the ability to open the mouth.
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Vertebral wedging
MedGen UID:
120495
Concept ID:
C0264112
Anatomical Abnormality
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
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.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.
Hypoplastic ilia
MedGen UID:
348814
Concept ID:
C1861218
Finding
Underdevelopment of the ilium.
Stiff neck
MedGen UID:
57464
Concept ID:
C0151315
Sign or Symptom
A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepiphyseal dysplasia, Stanescu type

Recent clinical studies

Etiology

Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761

Diagnosis

Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB
Am J Med Genet A 2020 Nov;182(11):2715-2721. Epub 2020 Aug 28 doi: 10.1002/ajmg.a.61817. PMID: 32856782
Nishimura G, Saitoh Y, Okuzumi S, Imaizumi K, Hayasaka K, Hashimoto M
Skeletal Radiol 1998 Apr;27(4):188-94. doi: 10.1007/s002560050363. PMID: 9592900
Freisinger P, Stanescu V, Jacob B, Cohen-Solal L, Maroteaux P, Bonaventure J
Am J Med Genet 1994 Feb 15;49(4):439-46. doi: 10.1002/ajmg.1320490418. PMID: 8160740
Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516
Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761

Prognosis

Stanescu V, Stanescu R, Maroteaux P
J Bone Joint Surg Am 1984 Jul;66(6):817-36. doi: 10.2106/00004623-198466060-00002. PMID: 6376516

Clinical prediction guides

Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB
Am J Med Genet A 2020 Nov;182(11):2715-2721. Epub 2020 Aug 28 doi: 10.1002/ajmg.a.61817. PMID: 32856782
Maroteaux P, Stanescu V, Stanescu R
Eur J Pediatr 1983 Oct;141(1):14-22. doi: 10.1007/BF00445662. PMID: 6641761
Stanescu V, Maroteaux P
Pediatr Res 1975 Oct;9(10):779-82. doi: 10.1203/00006450-197510000-00006. PMID: 127160

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