SMED Strudwick type (SEMDSTWK)
SEMD Shohat type (SEMDSH)
SEMD Faden-Alkuraya type (SEMDFA)
SEMD Di Rocco type (SEMDDR)
SEMD Isidor-Toutain type (SEMDIST)
SEMD Krakow type (SEMDK)
SEMD Aggrecan type (SEMDAG)
SEMD Genevieve type (SEMDG)
SEMD Sponastrime type (SEMSP)
X-linked SEMD (SEMDX)
SEMD Pakistani type [DS:H00761]
SEMD Matrilin type [DS:H00767]
SEMD Short limb-hand type [DS:H00777]
SEMD with joint laxity type [DS:H01494]
SEMD Missouri type (SEMDM)
SEMD X-linked, with hypomyelinating leukodystrophy (SEMDHL)
SEMD Guo-Campeau type (SEMDGC)

Cormier-Daire V

Spondylo-epi-metaphyseal dysplasia.

Best Pract Res Clin Rheumatol 22:33-44 (2008)
DOI:10.1016/j.berh.2007.12.009

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Nat Genet 11:87-9 (1995)
DOI:10.1038/ng0995-87

Egunsola AT, Bae Y, Jiang MM, Liu DS, Chen-Evenson Y, Bertin T, Chen S, Lu JT, Nevarez L, Magal N, Raas-Rothschild A, Swindell EC, Cohn DH, Gibbs RA, Campeau PM, Shohat M, Lee BH

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

J Clin Invest 127:1475-1484 (2017)
DOI:10.1172/JCI90193

Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I, Maas RL, Boycott K, Alkuraya FS

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations.

Am J Hum Genet 97:608-15 (2015)
DOI:10.1016/j.ajhg.2015.08.007

Di Rocco M, Rusmini M, Caroli F, Madeo A, Bertamino M, Marre-Brunenghi G, Ceccherini I

Novel spondyloepimetaphyseal dysplasia due to UFSP2 gene mutation.

Clin Genet 93:671-674 (2018)
DOI:10.1111/cge.13134

Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Teletchea 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, Retiere C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature.

Am J Hum Genet 105:1040-1047 (2019)
DOI:10.1016/j.ajhg.2019.09.024

Csukasi F, Duran I, Barad M, Barta T, Gudernova I, Trantirek L, Martin JH, Kuo CY, Woods J, Lee H, Cohn DH, Krejci P, Krakow D

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling.

Sci Transl Med 10:eaat9356 (2018)
DOI:10.1126/scitranslmed.aat9356

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Am J Hum Genet 84:72-9 (2009)
DOI:10.1016/j.ajhg.2008.12.001

van Karnebeek CD, Bonafe L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Nat Genet 48:777-84 (2016)
DOI:10.1038/ng.3578

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, 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

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

Am J Hum Genet 104:422-438 (2019)
DOI:10.1016/j.ajhg.2019.01.007

Cho SY, Bae JS, Kim NKD, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Am J Hum Genet 98:1243-1248 (2016)
DOI:10.1016/j.ajhg.2016.04.004

Kennedy AM, Inada M, Krane SM, Christie PT, Harding B, Lopez-Otin C, Sanchez LM, Pannett AA, Dearlove A, Hartley C, Byrne MH, Reed AA, Nesbit MA, Whyte MP, Thakker RV

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

J Clin Invest 115:2832-42 (2005)
DOI:10.1172/JCI22900

Mierzewska H, Rydzanicz M, Bieganski T, Kosinska J, Mierzewska-Schmidt M, Lugowska A, Pollak A, Stawinski P, Walczak A, Kedra A, Obersztyn E, Szczepanik E, Ploski R

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

Clin Genet 91:30-37 (2017)
DOI:10.1111/cge.12792

Guo L, Salian S, Xue JY, Rath N, Rousseau J, Kim H, Ehresmann S, Moosa S, Nakagawa N, Kuroda H, Clayton-Smith J, Wang J, Wang Z, Banka S, Jackson A, Zhang YM, Wei ZJ, Huning I, Brunet T, Ohashi H, Thomas MF, Bupp C, Miyake N, Matsumoto N, Mendoza-Londono R, Costain G, Hahn G, Di Donato N, Yigit G, Yamada T, Nishimura G, Ansel KM, Wollnik B, Hrabe de Angelis M, Megarbane A, Rosenfeld JA, Heissmeyer V, Ikegawa S, Campeau PM

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

Am J Hum Genet 110:1068-1085 (2023)
DOI:10.1016/j.ajhg.2023.06.001

Familial thoracic aortic aneurysm and dissection [DS:H00801]

Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

NPJ Genom Med 9:22 (2024)
DOI:10.1038/s41525-024-00413-z