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X-Linked Spondyloepiphyseal Dysplasia Tarda

Synonyms: TRAPPC2-Related SED Tarda, X-Linked (SED-XL); TRAPPC2-Related X-Linked Spondyloepiphyseal Dysplasia Tarda

, MD, PhD.

Author Information and Affiliations

Initial Posting: ; Last Update: March 25, 2026.

Estimated reading time: 15 minutes

Summary

Clinical description.

In adults, X-linked spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit linear growth deficiency beginning around age six to eight years. Final adult height is typically 137-163 cm. Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved but to a variable degree. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared. Motor and cognitive milestones are normal.

Diagnosis/testing.

The clinical diagnosis of X-linked SEDT can be established in a male proband with characteristic radiographic findings (which typically appear prior to puberty) including multiple epiphyseal abnormalities, platyspondyly with characteristic superior and inferior "humping" seen on lateral view, scoliosis, hypoplastic odontoid process, short femoral necks, and coxa vara; evidence of premature osteoarthritis appears in young adulthood. The molecular diagnosis of X-linked SEDT can be established in a male proband with suggestive findings and a hemizygous pathogenic variant in TRAPPC2 identified by molecular genetic testing.

Management.

Treatment of manifestations: Treatment for scoliosis and kyphoscoliosis per orthopedic surgeon; surgical intervention may include spine surgery (correction of scoliosis or kyphosis). Pain management as needed for osteoarthritis; joint replacement (hip, knee, shoulder) as needed.

Surveillance: Cervical spine films prior to school age and before any surgical procedure involving general anesthesia to assess for clinically significant odontoid hypoplasia. Annual follow up for assessment of scoliosis and joint pain.

Agents/circumstances to avoid: Extreme neck flexion and extension in individuals with odontoid hypoplasia. Activities and occupations that place undue stress on the spine and weight-bearing joints.

Evaluation of relatives at risk: If the TRAPPC2 pathogenic variant in the family is known, genetic testing of at-risk male relatives may obviate unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis.

Genetic counseling.

By definition, X-linked SEDT is inherited in an X-linked manner. In reported individuals for whom molecular genetic testing was available in a research laboratory, all mothers of affected sons were carriers of a TRAPPC2 pathogenic variant regardless of family history. Mothers of affected sons who are not carriers have not been reported to date. If the mother of the proband has a TRAPPC2 pathogenic variant, the chance of transmitting the pathogenic variant in each pregnancy is 50%: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be heterozygotes and typically show no phenotypic changes. Affected males transmit the TRAPPC2 pathogenic variant to all of their daughters and none of their sons. Once the X-linked SEDT-causing pathogenic variant has been identified in an affected family member, carrier testing for at-risk female relatives and prenatal/preimplantation genetic testing are possible.

Diagnosis

No consensus clinical diagnostic criteria for X-linked spondyloepiphyseal dysplasia tarda (SEDT) have been published.

Suggestive Findings

X-linked SEDT should be suspected in males with the following clinical and radiographic findings and family history.

Clinical findings

  • Disproportionate short stature in adolescence or adulthood and a relatively short trunk and barrel-shaped chest. Upper to lower body segment ratio is usually about 0.8. Arm span typically exceeds height by 10-20 cm.
  • Short neck, dorsal kyphosis, and lumbar hyperlordosis may be evident by puberty
  • Early-onset osteoarthritis, especially in the hip joints
  • Absence of cleft palate and retinal detachment (frequently present in SED congenita; see Differential Diagnosis)

Radiographic findings, which may not be manifest in an affected male in early childhood and typically appear prior to puberty, include the following (see Figure 1):

Figure 1.

Figure 1.

Radiographs of a male age 31 years with X-linked spondyloepiphyseal dysplasia tarda A. Platyspondyly with superior and inferior humping of vertebral bodies

  • Multiple epiphyseal abnormalities
  • Platyspondyly (flattened vertebral bodies) with characteristic superior and inferior "humping" seen on lateral view; narrow disc spaces in adulthood
  • Scoliosis/kyphoscoliosis
  • Hypoplastic odontoid process
  • Short femoral necks
  • Coxa vara
  • Evidence of premature osteoarthritis beginning in young adulthood

Family history is consistent with X-linked inheritance (e.g., no male-to-male transmission). Absence of a known family history does not preclude the diagnosis.

Establishing the Diagnosis

Clinical Diagnosis

The clinical diagnosis of X-linked SEDT can be established in a male proband with characteristic clinical and radiographic findings.

Molecular Diagnosis

The molecular diagnosis is established in a male proband with suggestive findings and a hemizygous pathogenic (or likely pathogenic) variant in TRAPPC2 identified by molecular genetic testing (see Table 1).

Note: (1) Per American College of Medical Genetics and Genomics / Association for Molecular Pathology variant interpretation guidelines, the terms "pathogenic variant" and "likely pathogenic variant" are synonymous in a clinical setting, meaning that both are considered diagnostic and can be used for clinical decision making [Richards et al 2015]. Reference to "pathogenic variants" in this GeneReview is understood to include likely pathogenic variants. (2) Identification of a hemizygous TRAPPC2 variant of uncertain significance does not establish or rule out the diagnosis.

Molecular genetic testing approaches can include single gene testing or a multigene panel.

  • Single-gene testing. Sequence analysis of TRAPPC2 is performed first to detect missense, nonsense, and splice site variants and small intragenic deletions/insertions. Note: Depending on the sequencing method used, single-exon, multiexon, or whole-gene deletions/duplications may not be detected. If no variant is detected by the sequencing method used, the next step is to perform gene-targeted deletion/duplication analysis to detect exon and whole-gene deletions or duplications.
  • A multigene panel that includes TRAPPC2 and other genes of interest (see Differential Diagnosis) may also be considered to identify the genetic cause of the condition while limiting identification of pathogenic variants and variants of uncertain significance in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.

Table 1.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Molecular Genetic Testing

Gene 1MethodProportion of Pathogenic Variants 2 Identified by Method
TRAPPC2 Sequence analysis 384% 4
Gene-targeted deletion/duplication analysis 516% 6
Unknown 7NARare

NA = not applicable

1.
2.

See Molecular Genetics for information on variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include missense, nonsense, and splice site variants and small intragenic deletions/insertions; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications. Exome and genome sequencing may be able to detect deletions/duplications using breakpoint detection or read depth; however, sensitivity can be lower than gene-targeted deletion/duplication analysis.

6.

Males initially suspected on sequence analysis of having a deletion in whom the deletion is subsequently confirmed by deletion/duplication analysis

7.

It is unknown whether negative molecular analysis reflects locus heterogeneity or clinical misdiagnosis.

Clinical Characteristics

Clinical Description

Males. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit linear growth deficiency beginning around grade school (age 6-8 years). Adults with X-linked spondyloepiphyseal dysplasia tarda (SEDT) have disproportionately short stature with short trunk and arm span significantly greater than height. Final adult height is typically 137-163 cm [Rimoin et al 2013, Jones et al 2021].

Scoliosis/kyphoscoliosis and odontoid hypoplasia are known radiographic features. Data on the incidence, onset, and severity of these features have not been published.

Osteoarthritis. Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved to variable degrees. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared.

Affected males achieve normal motor and cognitive milestones. Life span and intelligence appear normal.

Heterozygous females. Carrier females typically show no phenotypic changes.

Genotype-Phenotype Correlations

Data are inadequate to reliably correlate clinical severity to a specific TRAPPC2 pathogenic variant. All pathogenic variants identified thus far, irrespective of their molecular basis, result in an almost identical phenotype, including the true null variants.

Nomenclature

"Spondyloepiphyseal dysplasia" (SED) is a general term that describes the radiographic abnormalities seen in several skeletal dysplasias, including pseudoachondroplasia. The "congenita" form is evident at birth, whereas the "tarda" form is usually evident by school age.

SED tarda commonly refers to the X-linked recessive form of the disorder, although rare autosomal dominant and autosomal recessive "tarda" forms have been described.

In the 2023 revision of the Nosology of Genetic Skeletal Disorders [Unger et al 2023], X-linked spondyloepiphyseal dysplasia tarda is referred to as TRAPPC2-related SED tarda, X-linked (SED-XL) and included in the spondyloepi(meta)physeal dysplasias (SE[M]D) group.

Prevalence

The prevalence is 1:150,000-200,000 [Wynne-Davies & Gormley 1985].

Pathogenic variants in TRAPPC2 have been found in several populations including European [Fiedler et al 2004], Japanese [Fukuma et al 2018], and Chinese [Zhang et al 2020], suggesting that no specific population is at increased risk.

Differential Diagnosis

X-linked spondyloepiphyseal dysplasia tarda (SEDT) is distinguished from other forms of spondyloepiphyseal dysplasia (SED) by its later onset and X-linked inheritance (see Table 2).

Table 2.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Genetic Differential Diagnosis

Gene(s)DisorderMOIClinical Features of DisorderDistinguishing Features /
Comment
CCN6
(WISP3)		Progressive pseudorheumatoid dysplasia (PED)ARPredominant involvement of articular cartilage w/progressive joint stiffness & enlargement & in absence of inflammation. Onset (age ~3-6 yrs) begins w/involvement of interphalangeal joints; later involvement of large joints & spine causes significant joint contractures, gait disturbance, & scoliosis &/or kyphosis resulting in abnormal posture & significant morbidity. Short stature (<3rd centile) becomes evident in adolescence.Unlike X-linked SEDT, joint swelling & hand involvement are common features of PED.
COL2A1 Spondyloepiphyseal dysplasia congenita (SEDC), COL2A1-related (See Type II Collagen Disorders Overview.)AD 1Presents neonatally w/severe disproportionate short stature, short extremities, characteristic facial features, myopia, & hearing loss. Delayed/poor ossification of vertebrae & pubic bones; long bones are short w/hypoplastic epiphyses. Increased risk for cervical instability, retinal detachment, spinal cord compression, tracheolaryngomalacia, & related respiratory complications.SEDC is the most common form of SED.
Spondyloperipheral dysplasia (See Type II Collagen Disorders Overview.)ADMild-to-moderate disproportionate short stature & short extremities, brachydactyly type E, short ulnae, variable clubfeet, cleft palate, myopia, & hearing loss. Ovoid vertebra, delayed ossification of pubic bones, & flattened & irregular epiphyses in long bones. Premature hip arthrosis causes joint pain.
COL2A1
COL9A1
COL9A2
COL9A3
COL11A1
COL11A2 		Stickler syndrome AD
AR 2		Connective tissue disorder; can include ocular findings of myopia cataract & retinal detachment; hearing loss (both conductive & sensorineural). Midfacial underdevelopment & cleft palate (either alone or as part of Pierre Robin sequence). Skeletal manifestations include mainly early-onset degenerative joint disease w/radiographic findings consistent w/mild SED.
COL9A1
COL9A2
COL9A3
COMP
MATN3 		Multiple epiphyseal dysplasia, autosomal dominant (MED)ADPresents early in childhood, usually w/pain in hips &/or knees after exercise. Affected children complain of fatigue w/long distance walking. Waddling gait may be present. Adult height in lower range of normal or mildly shortened. Limbs are relatively short compared to trunk. Progressive pain & joint deformity progress, resulting in early-onset osteoarthritis particularly of large weight-bearing joints.By definition, spine in MED is normal, although Schmorl bodies & irregular vertebral end plates may be observed.
GLNS
GLB1 		Morquio syndrome (MPS IVA & MPS IVB) (See GLB1-Related Disorders.)ARDysostosis multiplex, odontoid hypoplasia, short stature, hepatomegaly, & corneal clouding

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; MPS = mucopolysaccharidosis; SED = spondyloepiphyseal dysplasia; SEDT = spondyloepiphyseal dysplasia tarda

1.

Rare instances of autosomal recessive inheritance in SEDC have been reported (see Type II Collagen Disorders Overview).

2.

Stickler syndrome caused by pathogenic variants in COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner.

Other. Scheuermann disease (OMIM 181440) is a term applied to premature osteoarthritis of the spine regardless of etiology.

Management

No clinical practice guidelines for X-linked spondyloepiphyseal dysplasia tarda (SEDT) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with X-linked SEDT, the evaluations summarized in Table 3 (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 3.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Recommended Evaluations Following Initial Diagnosis

System/ConcernEvaluationComment
Musculoskeletal manifestations Complete radiographic survey to incl scoliosis series if clinically indicatedTo assess extent of skeletal manifestations
Cervical spine
  • Flexion-extension radiographs of cervical spine
  • Flexion-extension MRI if instability & compression seen on radiographs or interpretation on radiographs is limited (e.g., in young persons w/delayed ossification in upper cervical spine)
To assess for clinically significant odontoid hypoplasia
Genetic
counseling 		By genetics professionals 1To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of X-linked SEDT to facilitate medical & personal decision making

MOI = mode of inheritance; SEDT = spondyloepiphyseal dysplasia tarda

1.

Clinical geneticist, certified genetic counselor, certified genetic nurse, genetics advanced practice provider (nurse practitioner or physician assistant)

Treatment of Manifestations

Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by specialists in relevant fields (see Table 4).

Table 4.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Treatment of Manifestations

Manifestation/
Concern		TreatmentConsiderations/
Other
Odontoid
hypoplasia 		Precautions during intubation/surgery to avoid hyperextensionObtain cervical spinal films prior to any surgical procedure involving general anesthesia to assess for clinically significant odontoid hypoplasia.
Scoliosis/
Kyphoscoliosis
  • Treatment per orthopedic surgeon
  • Spine surgery (correction of scoliosis or kyphosis) may be indicated.
Osteoarthritis
  • Chronic pain mgmt
  • Surgical intervention may incl joint replacement (hip, knee, shoulder).

Surveillance

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in Table 5 are recommended.

Table 5.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Recommended Surveillance

System/ConcernEvaluationFrequency
Odontoid hypoplasia Flexion-extension radiographs of cervical spineObtain prior to school age to assess for clinically significant odontoid hypoplasia.
Scoliosis/
Kyphoscoliosis 		Clinical eval w/spine radiographs if clinically indicatedAnnually
Osteoarthritis Clinical eval for osteoarthritis

Agents/Circumstances to Avoid

The following should be avoided:

  • In individuals with odontoid hypoplasia, extreme neck flexion and extension
  • Activities and occupations that place undue stress on the spine and weight-bearing joints

Evaluation of Relatives at Risk

If the TRAPPC2 pathogenic variant in the family is known, genetic testing of at-risk male relatives allows early diagnosis and may obviate unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Mode of Inheritance

By definition, X-linked spondyloepiphyseal dysplasia tarda (SEDT) is inherited in an X-linked manner.

Risk to Family Members

Parents of a proband

  • The father of an affected male will not have the disorder nor will he be hemizygous for the TRAPPC2 pathogenic variant; therefore, he does not require further evaluation/testing.
  • In a family with more than one affected individual, the mother of an affected male is an obligate heterozygote (carrier). Note: If a woman has more than one affected child and no other affected relatives and if the familial pathogenic variant cannot be detected in her leukocyte DNA, she most likely has gonadal mosaicism.
  • If a male is the only affected family member (i.e., a simplex case) the mother may be a heterozygote (carrier), the affected male may have a de novo pathogenic variant (in which case the mother is not a carrier), or the mother may have somatic/gonadal mosaicism. In reported individuals for whom molecular genetic testing was available in a research laboratory, all mothers of affected sons were carriers of a TRAPPC2 pathogenic variant regardless of family history [Gedeon et al 2001]. Mothers of affected sons who are not carriers have not been reported to date.
  • Molecular genetic testing of the mother is recommended to confirm her genetic status and to allow reliable recurrence risk assessment. Note: Testing of maternal leukocyte DNA may not detect all instances of somatic mosaicism and will not detect a pathogenic variant that is present in the germ (gonadal) cells only.

Sibs of a male proband. The risk to sibs depends on the genetic status of the mother:

  • If the mother of the proband has a TRAPPC2 pathogenic variant, the chance of transmitting the pathogenic variant in each pregnancy is 50%.
  • If the proband represents a simplex case and if the TRAPPC2 pathogenic variant cannot be detected in the leukocyte DNA of the mother, the risk to sibs is presumed to be low but greater than that of the general population because of the possibility of maternal gonadal mosaicism. Maternal gonadal mosaicism has not been reported to date.

Offspring of a male proband. Affected males transmit the TRAPPC2 pathogenic variant to all of their daughters and none of their sons.

Other family members. The maternal aunts and maternal cousins of a male proband may be at risk of having a TRAPPC2 pathogenic variant.

Carrier Detection

Identification of female heterozygotes requires either prior identification of the TRAPPC2 pathogenic variant in the family or, if an affected male is not available for testing, molecular genetic testing first by sequence analysis, and if no pathogenic variant is identified, by gene-targeted deletion/duplication analysis.

Note: Females who are heterozygotes (carriers) for X-linked SEDT typically show no phenotypic changes (see Clinical Description, Heterozygous females).

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk male relatives for the purpose of early diagnosis and treatment.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking. Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown). For more information, see Huang et al [2022].

Prenatal Testing and Preimplantation Genetic Testing

Once the X-linked SEDT-causing pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal and preimplantation genetic testing. While most health care professionals would consider use of prenatal and preimplantation genetic testing to be a personal decision, discussion of these issues may be helpful.

Resources

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
TRAPPC2Xp22​.2Trafficking protein particle complex subunit 2TRAPPC2 databaseTRAPPC2TRAPPC2

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for X-Linked Spondyloepiphyseal Dysplasia Tarda (View All in OMIM)

300202TRACKING PROTEIN PARTICLE COMPLEX, SUBUNIT 2; TRAPPC2
313400SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT

Molecular Pathogenesis

TRAPPC2 (previously SEDL) encodes the 140-amino acid protein "sedlin" (trafficking protein particle complex subunit 2), which appears to be ubiquitously expressed [Gedeon et al 1999, Gécz et al 2000]. Sedlin is an essential component of the TRAPP (trafficking protein particle) complex that is required for the export of procollagen trimers (e.g., type II collagen) from the endoplasmic reticulum to the Golgi, which ultimately permits incorporation of these proteins into the extracellular matrix [Venditti et al 2012].

Mechanism of disease causation. Loss of function

TRAPPC2-specific laboratory technical considerations. TRAPPC2 contains six exons with the translation start site in exon 3. The exon and multiexon deletions (see also HGMD in Table A) would not be detected in heterozygous females by sequence analysis (see Table 1). Sequence analysis should include flanking intronic sequences, which is customary to evaluate splice junctions. This is particularly important with TRAPPC2, as there is an expressed pseudogene that is devoid of introns [Gécz et al 2000].

Chapter Notes

Author History

George E Tiller, MD, PhD (2001-present)
Vickie L Hannig, MS; Vanderbilt University Medical Center (2001-2020)

Revision History

  • 25 March 2026 (sw) Comprehensive update posted live
  • 5 November 2020 (sw) Comprehensive update posted live
  • 11 June 2015 (me) Comprehensive update posted live
  • 15 February 2011 (me) Comprehensive update posted live
  • 5 April 2006 (me) Comprehensive update posted live
  • 10 February 2004 (me) Comprehensive update posted live
  • 1 November 2001 (me) Review posted live
  • 16 May 2001 (gt) Original submission

References

Literature Cited

  • Fiedler J, Le Merrer M, Mortier G, Heuertz S, Faivre L, Brenner RE. X-linked spondyloepiphyseal dysplasia tarda: novel and recurrent mutations in 13 European families. Hum Mutat. 2004;24:103. [PubMed: 15221797]
  • Fukuma M, Takagi M, Shimazu T, Imamura H, Yagi H, Nishimura G, Hasegawa T. A familial case of spondyloepiphyseal dysplasia tarda caused by a novel splice site mutation in TRAPPC2. Clin Pediatr Endocrinol. 2018;27:193-6. [PMC free article: PMC6073055] [PubMed: 30083037]
  • Gécz J, Hillman MA, Gedeon AK, Cox TC, Baker E, Mulley JC. Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda. Genomics. 2000;69:242–51. [PubMed: 11031107]
  • Gedeon AK, Colley A, Jamieson R, Thompson EM, Rogers J, Sillence D, Tiller GE, Mulley JC, Gecz J. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nat Genet. 1999;22:400–4. [PubMed: 10431248]
  • Gedeon AK, Tiller GE, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass IA, Savarirayan R, Cole WG, Rimoin DL, Kousseff BG, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley JC. The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet. 2001;68:1386–97. [PMC free article: PMC1226125] [PubMed: 11349230]
  • Huang SJ, Amendola LM, Sternen DL. Variation among DNA banking consent forms: points for clinicians to bank on. J Community Genet. 2022;13:389–97. [PMC free article: PMC9314484] [PubMed: 35834113]
  • Jones KL, Jones MC, del Campo M. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2021.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. [PMC free article: PMC4544753] [PubMed: 25741868]
  • Rimoin DL, Lachman RS, Unger S. Chondrodysplasias. In: Rimoin DL, Pyeritz RE, Korf BR, eds. Emery & Rimoin's Principles and Practice of Medical Genetics. 6 ed. New York, NY: Academic Press; 2013.
  • Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139:1197–207. [PMC free article: PMC7497289] [PubMed: 32596782]
  • Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023;191:1164-209. [PMC free article: PMC10081954] [PubMed: 36779427]
  • Venditti R, Scanu T, Santoro M, Di Tullio G, Spaar A, Gaibisso R, Beznoussenko GV, Mironov AA, Mironov A Jr, Zelante L, Piemontese MR, Notarangelo A, Malhotra V, Vertel BM, Wilson C, De Matteis MA. Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science. 2012;337:1668–72. [PMC free article: PMC3471527] [PubMed: 23019651]
  • Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care. J Bone Joint Surg Br. 1985;67:133–7. [PubMed: 3155744]
  • Zhang C, Du C, Ye J, Ye F, Wang R, Luo X, Liang Y. A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family. BMC Med Genet. 2020;21:117. [PMC free article: PMC7260818] [PubMed: 32471379]
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