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Spondyloepimetaphyseal dysplasia, Isidor-Toutain type(SEMDIST)

MedGen UID:: 1684771
•Concept ID:: C5231478
•: Disease or Syndrome

Synonyms:	SEMDIST; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE

Gene (location): Gene(s) directly associated with this condition or phenotype.	RPL13 (16q24.3)

Monarch Initiative:	MONDO:0032885
OMIM®:	618728

Definition

The Isidor-Toutain type of spondyloepimetaphyseal dysplasia (SEMDIST) is characterized by normal birth length, early postnatal growth deficiency, severe short stature, and genu varum. Skeletal radiographs show platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs (Le Caignec et al., 2019). [from OMIM]

Clinical features

From HPO

Genu varum

MedGen UID:: 154257
•Concept ID:: C0544755
•: Finding

A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.

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Upper-limb metaphyseal irregularity

MedGen UID:: 867356
•Concept ID:: C4021720
•: Finding

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Coxa vara

MedGen UID:: 1790477
•Concept ID:: C5551440
•: Finding

Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees.

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Severe short stature

MedGen UID:: 3931
•Concept ID:: C0013336
•: Disease or Syndrome

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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Postnatal growth retardation

MedGen UID:: 395343
•Concept ID:: C1859778
•: Finding

Slow or limited growth after birth.

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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Platyspondyly

MedGen UID:: 335010
•Concept ID:: C1844704
•: Finding

A flattened vertebral body shape with reduced distance between the vertebral endplates.

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Irregular femoral epiphysis

MedGen UID:: 340592
•Concept ID:: C1850658
•: Finding

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Short long bone

MedGen UID:: 344385
•Concept ID:: C1854912
•: Finding

One or more abnormally short long bone.

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Enlarged metaphyses

MedGen UID:: 344520
•Concept ID:: C1855544
•: Finding

Abnormal increase in size of one or more metaphyses.

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Lower-limb metaphyseal irregularity

MedGen UID:: 868143
•Concept ID:: C4022534
•: Anatomical Abnormality

Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg.

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Abnormality of limbs
Abnormality of the musculoskeletal system
Growth abnormality
- Postnatal growth retardation
- Severe short stature

Recent clinical studies

Etiology

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.

Akalın A, Taskiran EZ, Şimşek-Kiper PÖ, Utine E, Alanay Y, Özçelik U, Boduroğlu K
Am J Med Genet A 2021 Oct;185(10):3104-3110. Epub 2021 Jun 4 doi: 10.1002/ajmg.a.62378. PMID: 34089299

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Costantini A, Alm JJ, Tonelli F, Valta H, Huber C, Tran AN, Daponte V, Kirova N, Kwon YU, Bae JY, Chung WY, Tan S, Sznajer Y, Nishimura G, Näreoja T, Warren AJ, Cormier-Daire V, Kim OH, Forlino A, Cho TJ, Mäkitie O
J Bone Miner Res 2021 Feb;36(2):283-297. Epub 2020 Oct 13 doi: 10.1002/jbmr.4177. PMID: 32916022 Free PMC Article

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE
Clin Endocrinol (Oxf) 2018 Jun;88(6):820-829. Epub 2018 Mar 24 doi: 10.1111/cen.13581. PMID: 29464738

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Rozovsky K, Sosna J, Le Merrer M, Simanovsky N, Koplewitz BZ, Bar-Ziv J, Cormier-Daire V, Raas-Rothschild A
Pediatr Radiol 2011 Oct;41(10):1298-307. Epub 2011 Aug 5 doi: 10.1007/s00247-011-2123-2. PMID: 21818555

Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.

Patel AC, McAlister WH, Whyte MP
Medicine (Baltimore) 1993 Sep;72(5):326-42. PMID: 8412645

See all (23)

Diagnosis

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B
Am J Hum Genet 2019 Mar 7;104(3):422-438. Epub 2019 Feb 14 doi: 10.1016/j.ajhg.2019.01.007. PMID: 30773277 Free PMC Article

Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis.

Simsek-Kiper PO, Taskiran EZ, Kosukcu C, Urel-Demir G, Akgun-Dogan O, Yilmaz G, Utine GE, Nishimura G, Boduroglu K, Alikasifoglu M
Am J Med Genet A 2018 Sep;176(9):2009-2016. Epub 2018 Jul 31 doi: 10.1002/ajmg.a.40427. PMID: 30063090

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC
Am J Med Genet A 2017 Mar;173(3):733-739. Epub 2016 Nov 26 doi: 10.1002/ajmg.a.38059. PMID: 27888646 Free PMC Article

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature.

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

See all (34)

Prognosis

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

Isidor B, Geffroy L, de Courtivron B, Le Caignec C, Thiel CT, Mortier G, Cormier-Daire V, David A, Toutain A
Am J Med Genet A 2013 Oct;161A(10):2645-51. Epub 2013 Aug 16 doi: 10.1002/ajmg.a.36132. PMID: 23956136

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type.

Amirfeyz R, Taylor A, Smithson SF, Gargan MF
J Pediatr Orthop B 2006 Jan;15(1):41-4. doi: 10.1097/01202412-200601000-00009. PMID: 16280719

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).

Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, López-Otín C, Sánchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV
J Clin Invest 2005 Oct;115(10):2832-42. doi: 10.1172/JCI22900. PMID: 16167086 Free PMC Article

Spondyloepimetaphyseal dysplasia: clinical and radiologic investigation of a large kindred manifesting autosomal dominant inheritance, and a review of the literature.

Patel AC, McAlister WH, Whyte MP
Medicine (Baltimore) 1993 Sep;72(5):326-42. PMID: 8412645

See all (14)

Clinical prediction guides

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B
Am J Hum Genet 2019 Nov 7;105(5):1040-1047. Epub 2019 Oct 17 doi: 10.1016/j.ajhg.2019.09.024. PMID: 31630789 Free PMC Article

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

A new form of severe spondyloepimetaphyseal dysplasia: clinical and radiological characterization.

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

See all (20)