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1.

Stickler syndrome type 1

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]

MedGen UID:
810955
Concept ID:
C2020284
Disease or Syndrome
2.

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990). [from OMIM]

MedGen UID:
412530
Concept ID:
C2745959
Congenital Abnormality
3.

Schimke immuno-osseous dysplasia

Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small ilia with shallow dysplastic acetabular fossae, and small deformed capital femoral epiphyses. Nearly all affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease. The majority of tested individuals have T-cell deficiency and an associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with a greater risk of death during childhood to a juvenile or milder later-onset form with likely survival into adulthood if renal disease is appropriately treated. [from GeneReviews]

MedGen UID:
164078
Concept ID:
C0877024
Congenital Abnormality
4.

Spondyloperipheral dysplasia

Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability. [from MedlinePlus Genetics]

MedGen UID:
163223
Concept ID:
C0796173
Disease or Syndrome
5.

Stickler syndrome type 2

Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. [from GeneReviews]

MedGen UID:
347615
Concept ID:
C1858084
Disease or Syndrome
6.

Spondyloepiphyseal dysplasia with congenital joint dislocations

CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal. [from GeneReviews]

MedGen UID:
373381
Concept ID:
C1837657
Disease or Syndrome
7.

Spondyloepimetaphyseal dysplasia, Maroteaux type

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]

MedGen UID:
463613
Concept ID:
C3159322
Disease or Syndrome
8.

Spondyloepiphyseal dysplasia, Stanescu type

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]

MedGen UID:
905084
Concept ID:
C4225273
Disease or Syndrome
9.

Roifman syndrome

Roifman syndrome is a multisystem disorder characterized by growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, distinctive facial dysmorphism, and immunodeficiency (summary by de Vries et al., 2006). [from OMIM]

MedGen UID:
375801
Concept ID:
C1846059
Disease or Syndrome
10.

Intellectual disability, X-linked, syndromic, 35

MedGen UID:
1392054
Concept ID:
C4478383
Disease or Syndrome
11.

Spondyloepiphyseal dysplasia, kondo-fu type

The Kondo-Fu type of spondyloepiphyseal dysplasia (SEDKF) is characterized by severely retarded growth and skeletal anomalies, including spondyloepiphyseal dysplasia with associated kyphosis and reduced bone mineral density. Elevated levels of blood lysosomal enzymes have also been observed (Kondo et al., 2018). [from OMIM]

MedGen UID:
1683128
Concept ID:
C5193071
Disease or Syndrome
12.

Spondyloepiphyseal dysplasia, Kimberley type

Disease with characteristics of short stature and premature degenerative arthropathy. It has been described in one multigenerational South African family of English white descent. The main clinical features may include proportionate short stature (less than fifth percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographic features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses. Caused by mutation in the aggrecan gene (AGC1, locus 15q26.1) and transmitted as an autosomal dominant trait. [from SNOMEDCT_US]

MedGen UID:
330777
Concept ID:
C1842149
Congenital Abnormality
13.

Spondyloepiphyseal dysplasia tarda, autosomal dominant

Autosomal domiant spondyloepiphyseal dysplasia tarda (autosomal dominant SEDT) is an inherited condition that affects bone growth. Signs and symptoms are generally physically apparent by puberty; however, abnormalities may be seen on X-ray at an earlier age. Affected people may have skeletal abnormalities, short stature (with a short neck and trunk, specifically), scoliosis, kyphosis, lumbar hyperlordosis (exaggerated curvature of the lower back), and early-onset progressive osteoarthritis of the hips and knees. Some cases of autosomal dominant SEDT may be caused by changes (mutations) in the COL2A1 gene. As the name suggests, the condition is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include surgery and pain management strategies. [from MONDO]

MedGen UID:
355785
Concept ID:
C1866717
Disease or Syndrome
14.

Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020). [from OMIM]

MedGen UID:
1780157
Concept ID:
C5543257
Disease or Syndrome
15.

Morquio syndrome C

Morquio syndrome is an autosomal recessive mucopolysaccharidosis characterized by short trunk dwarfism, fine corneal opacities, skeletal changes, and normal intelligence. Morquio syndromes A (MPS4A; 253000) and B (MPS4B; 253010) are caused by mutations in the N-acetylglucosamine-6-sulfate sulfatase (GALNS; 612222) and beta-galactosidase (GLB1; 611458) genes, respectively. MPS4A and MPS4B are characterized biochemically by increased urinary excretion of keratan sulfate (Beck et al., 1986). There is some evidence of an additional form of Morquio syndrome, referred to here as type C, in which urinary excretion of keratan sulfate is absent. However, McKusick (1972) suggested that the nonkeratosulfate- excreting Morquio syndrome may be allelic to other forms of Morquio syndrome. [from OMIM]

MedGen UID:
443986
Concept ID:
C2931140
Disease or Syndrome
16.

Spondyloepiphyseal dysplasia, Cantu type

An extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date with clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet. [from SNOMEDCT_US]

MedGen UID:
435975
Concept ID:
C2673649
Disease or Syndrome
17.

Spondyloepiphyseal dysplasia with punctate corneal dystrophy

MedGen UID:
357119
Concept ID:
C1866727
Disease or Syndrome
18.

Spondyloepiphyseal dysplasia tarda, autosomal recessive

Autosomal recessive form of spondyloepiphyseal dysplasia tarda. [from MONDO]

MedGen UID:
338604
Concept ID:
C1849054
Disease or Syndrome
19.

Spondyloepiphyseal dysplasia, Reardon type

Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process. [from ORDO]

MedGen UID:
322238
Concept ID:
C1833603
Disease or Syndrome
20.

Absence deformity of leg-cataract syndrome

A very rare congenital limb malformation syndrome characterized by absence deformity of one leg, progressive scoliosis, short stature, and congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been reported. There have been no further descriptions in the literature since 1968. [from ORDO]

MedGen UID:
343374
Concept ID:
C1855523
Disease or Syndrome
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