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Cone-shaped metacarpal epiphyses

MedGen UID:
343300
Concept ID:
C1855239
Finding
Synonym: Metacarpal cone-shaped epiphyses
 
HPO: HP:0006059

Definition

A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCone-shaped metacarpal epiphyses

Conditions with this feature

Acrocapitofemoral dysplasia
MedGen UID:
334681
Concept ID:
C1843096
Disease or Syndrome
Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021).
X-linked spondyloepimetaphyseal dysplasia
MedGen UID:
376281
Concept ID:
C1848097
Disease or Syndrome
X-linked spondyloepimetaphyseal dysplasia (SEMDX) is characterized by anomalies of the spine and the epiphyses and metaphyses of the long bones, resulting in short stature and osteoarthritic changes of the joints. Patients with SEMDX show rhizomelic shortening of the limbs and short limb-to-trunk ratio, significant bowing of the legs, waddling gait with lumbar lordosis, and brachydactyly (Cho et al., 2016).
Spondylometaphyseal dysplasia, Sedaghatian type
MedGen UID:
340816
Concept ID:
C1855229
Disease or Syndrome
Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014).

Professional guidelines

PubMed

Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC
Eur J Med Genet 2015 May;58(5):279-92. Epub 2015 Mar 16 doi: 10.1016/j.ejmg.2015.03.002. PMID: 25792522
Yucel A, Kuru I, Bozan ME, Acar M, Solak M
Skeletal Radiol 2005 Aug;34(8):468-76. Epub 2005 Jun 10 doi: 10.1007/s00256-005-0928-5. PMID: 15947976

Recent clinical studies

Etiology

Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650
Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, Schneider A, Girard M, Edery P, Bretonnes P, Cottalorda J, Lefort G, Jeandel C, Sarda P, Genevieve D
Eur J Hum Genet 2014 Jan;22(1):136-9. Epub 2013 Apr 10 doi: 10.1038/ejhg.2013.56. PMID: 23572024Free PMC Article

Diagnosis

Öztürk N, Karamık G, Mutlu H, Bayer ÖY, Mıhçı E, Çetin GO, Nur B
Turk J Pediatr 2023;65(1):81-95. doi: 10.24953/turkjped.2022.793. PMID: 36866988
Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940
Kirnap M, Calis M, Gokce C, Kurtoglu S, Ozturk M, Kelestimur F
Hormones (Athens) 2013 Apr-Jun;12(2):309-11. doi: 10.14310/horm.2002.1416. PMID: 23933701
Kikuchi N, Ogino T, Kashiwa H, Muragaki Y
Congenit Anom (Kyoto) 2007 Sep;47(3):105-7. doi: 10.1111/j.1741-4520.2007.00155.x. PMID: 17688470
Carrington PR, Chen H, Altick JA
J Am Acad Dermatol 1994 Aug;31(2 Pt 2):331-6. doi: 10.1016/s0190-9622(94)70166-0. PMID: 8034799

Therapy

Karaer K, Yüksel Z
Genet Couns 2014;25(1):13-7. PMID: 24783650

Prognosis

Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M
Eur J Med Genet 2024 Jun;69:104937. Epub 2024 Apr 2 doi: 10.1016/j.ejmg.2024.104937. PMID: 38574886
Ozyavuz Cubuk P, Duz MB
Eur J Med Genet 2021 Nov;64(11):104343. Epub 2021 Sep 14 doi: 10.1016/j.ejmg.2021.104343. PMID: 34530144

Clinical prediction guides

Ozyavuz Cubuk P, Duz MB
Eur J Med Genet 2021 Nov;64(11):104343. Epub 2021 Sep 14 doi: 10.1016/j.ejmg.2021.104343. PMID: 34530144
Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, Schneider A, Girard M, Edery P, Bretonnes P, Cottalorda J, Lefort G, Jeandel C, Sarda P, Genevieve D
Eur J Hum Genet 2014 Jan;22(1):136-9. Epub 2013 Apr 10 doi: 10.1038/ejhg.2013.56. PMID: 23572024Free PMC Article
Yucel A, Kuru I, Bozan ME, Acar M, Solak M
Skeletal Radiol 2005 Aug;34(8):468-76. Epub 2005 Jun 10 doi: 10.1007/s00256-005-0928-5. PMID: 15947976

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