Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

MedGen UID:: 375263
•Concept ID:: C1843706
•: Disease or Syndrome

Synonyms:	SMD WITH BOWED FOREARMS AND FACIAL DYSMORPHISM; SMD with with bowed forearms and facial dysmorphism; Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0011856
OMIM®:	607543
Orphanet:	ORPHA168552

Definition

Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome is a rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSpondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Skeletal dysplasia
        Spondylometaphyseal dysplasia
        Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome

Follow this link to review classifications for Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome in Orphanet.

Professional guidelines

PubMed

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

Li W, Wang W, Wang W, Zhong L, Gou L, Wang C, Ma J, Quan M, Jian S, Tang X, Zhang Y, Wang L, Ma M, Song H
Front Immunol 2022;13:825367. Epub 2022 Mar 28 doi: 10.3389/fimmu.2022.825367. PMID: 35418997 Free PMC Article

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Recent clinical studies

Etiology

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A
Am J Med Genet A 2011 Nov;155A(11):2860-4. Epub 2011 Sep 30 doi: 10.1002/ajmg.a.34268. PMID: 21964829

Clinical and radiographic delineation of odontochondrodysplasia.

Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A
Am J Med Genet A 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214. PMID: 18241073

Use of distraction osteogenesis techniques in skeletal dysplasias.

Myers GJ, Bache CE, Bradish CF
J Pediatr Orthop 2003 Jan-Feb;23(1):41-5. PMID: 12499941

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Diagnosis

Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.

Menezes AH, Traynelis VC
Childs Nerv Syst 2022 Feb;38(2):361-377. Epub 2021 Nov 22 doi: 10.1007/s00381-021-05409-z. PMID: 34806157

Automated reanalysis, a novel way to diagnose an ultra-rare condition: Fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1).

Sabir AH, Singhal J, Man J, Mensah NE, Ahn JW, Cheung MS, Irving M
Clin Dysmorphol 2021 Jul 1;30(3):154-158. doi: 10.1097/MCD.0000000000000369. PMID: 33605604

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N; Undiagnosed Diseases Network, Shashi V, Pena LDM
Cold Spring Harb Mol Case Stud 2018 Oct;4(5) Epub 2018 Oct 1 doi: 10.1101/mcs.a003046. PMID: 29970384 Free PMC Article

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427

Clinical and radiographic delineation of odontochondrodysplasia.

See all (9)

Therapy

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

See all (1)

Prognosis

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Use of distraction osteogenesis techniques in skeletal dysplasias.

Myers GJ, Bache CE, Bradish CF
J Pediatr Orthop 2003 Jan-Feb;23(1):41-5. PMID: 12499941

Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges.

Osebold WR, Poznanski AK, Opitz JM, Langer LO Jr, Spranger JW, Unni KK
Am J Med Genet 1998 Nov 16;80(3):187-95. doi: 10.1002/(sici)1096-8628(19981116)80:3<187::aid-ajmg1>3.0.co;2-#. PMID: 9843035

See all (3)