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Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

MedGen UID:
357120
•Concept ID:
C1866728
•
Disease or Syndrome
Synonyms: Spondyloepimetaphyseal dysplasia with hypotrichosis; Whyte Petersen McAlister syndrome; Whyte syndrome
SNOMED CT: Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome (773300008); Whyte syndrome (773300008)
 
Monarch Initiative: MONDO:0008469
OMIM®: 183849
Orphanet: ORPHA168443

Definition

A rare primary bone dysplasia disorder with characteristics of congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphyseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Follow this link to review classifications for Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome in Orphanet.

Professional guidelines

PubMed

Sleep-disordered breathing and its management in children with rare skeletal dysplasias.
Nguyen DB, Khirani S, Griffon L, Baujat G, Michot C, Marzin P, Rondeau S, Luscan R, Couloigner V, Pejin Z, Zerah M, Cormier-Daire V, Fauroux B
Am J Med Genet A 2021 Jul;185(7):2108-2118. Epub 2021 Apr 28 doi: 10.1002/ajmg.a.62236. PMID: 33908178

Recent clinical studies

Etiology

Clinical, radiological and molecular studies in 24 individuals with Dyggve-Melchior-Clausen dysplasia and Smith-McCort dysplasia from India.
Varshney K, Narayanachar SG, Girisha KM, Bhavani GS, Narayanan D, Phadke S, Nampoothiri S, Udupi GA, Raghupathy P, Nair M, Geetha TS, Bhat M
J Med Genet 2023 Feb;60(2):204-211. Epub 2022 Apr 27 doi: 10.1136/jmedgenet-2021-108098. PMID: 35477554
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G
Am J Med Genet A 2021 Oct;185(10):3153-3160. Epub 2021 Jun 23 doi: 10.1002/ajmg.a.62399. PMID: 34159694
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
Bilateral rhegmatogenous retinal detachment in spondyloepimetaphyseal dysplasia-Strudwick type.
Szigiato AA, Hillier RJ, Muni RH
Retin Cases Brief Rep 2015 Winter;9(1):51-4. doi: 10.1097/ICB.0000000000000079. PMID: 25383842
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V
Eur J Hum Genet 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339. PMID: 15726110

Diagnosis

Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.
Pinto E, Pinto C, Ramos C, Alves JE
Pediatr Radiol 2023 Mar;53(3):561-563. Epub 2022 Sep 22 doi: 10.1007/s00247-022-05503-7. PMID: 36136119
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G
Am J Med Genet A 2021 Oct;185(10):3153-3160. Epub 2021 Jun 23 doi: 10.1002/ajmg.a.62399. PMID: 34159694
Growth in individuals with Saul-Wilson syndrome.
Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB
Am J Med Genet A 2020 Sep;182(9):2110-2116. Epub 2020 Jul 11 doi: 10.1002/ajmg.a.61754. PMID: 32652690Free PMC Article
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R
Clin Genet 2017 Jan;91(1):30-37. Epub 2016 Jun 2 doi: 10.1111/cge.12792. PMID: 27102849
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

Therapy

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kühnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter JI, Borgström B, Nordgren A, Hammarsjö A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafè L, Grigelioniene G, Unger S, Superti-Furga A
Am J Med Genet A 2021 Feb;185(2):517-527. Epub 2021 Jan 4 doi: 10.1002/ajmg.a.62021. PMID: 33398909
Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities.
Shapiro F, Mulhern H, Weis MA, Eyre D
Ultrastruct Pathol 2006 Sep-Oct;30(5):393-400. doi: 10.1080/01913120600967004. PMID: 17090519

Prognosis

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R
Clin Genet 2017 Jan;91(1):30-37. Epub 2016 Jun 2 doi: 10.1111/cge.12792. PMID: 27102849
Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).
Merrick B, Calder A, Wakeling E
Am J Med Genet A 2015 Dec;167A(12):3103-7. Epub 2015 Aug 6 doi: 10.1002/ajmg.a.37282. PMID: 26250472
Occipitocervical fusion in skeletal dysplasia: a new surgical technique.
Sitoula P, Mackenzie WG, Shah SA, Thacker M, Ditro C, Holmes L Jr, Campbell JW, Rogers KJ
Spine (Phila Pa 1976) 2014 Jul 1;39(15):E912-8. doi: 10.1097/BRS.0000000000000381. PMID: 24825152
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
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Neumann LM, El Ghouzzi V, Paupe V, Weber HP, Fastnacht E, Leenen A, Lyding S, Klusmann A, Mayatepek E, Pelz J, Cormier-Daire V
Am J Med Genet A 2006 Mar 1;140(5):421-6. doi: 10.1002/ajmg.a.31090. PMID: 16470731

Clinical prediction guides

Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy.
Pinto E, Pinto C, Ramos C, Alves JE
Pediatr Radiol 2023 Mar;53(3):561-563. Epub 2022 Sep 22 doi: 10.1007/s00247-022-05503-7. PMID: 36136119
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kühnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter JI, Borgström B, Nordgren A, Hammarsjö A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafè L, Grigelioniene G, Unger S, Superti-Furga A
Am J Med Genet A 2021 Feb;185(2):517-527. Epub 2021 Jan 4 doi: 10.1002/ajmg.a.62021. PMID: 33398909
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Mierzewska H, Rydzanicz M, Biegański T, Kosinska J, Mierzewska-Schmidt M, Ługowska A, Pollak A, Stawiński P, Walczak A, Kędra A, Obersztyn E, Szczepanik E, Płoski R
Clin Genet 2017 Jan;91(1):30-37. Epub 2016 Jun 2 doi: 10.1111/cge.12792. PMID: 27102849
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
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, Sanlaville D, Pinton F, Villeneuve N, Kalifa G, Munnich A, Cormier-Daire V
Eur J Hum Genet 2005 May;13(5):541-6. doi: 10.1038/sj.ejhg.5201339. PMID: 15726110

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