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Pontocerebellar hypoplasia, type 12(PCH12)

MedGen UID:
1648343
Concept ID:
C4748873
Disease or Syndrome
Synonyms: PCH12; PONTOCEREBELLAR HYPOPLASIA, TYPE 12
 
Gene (location): COASY (17q21.2)
 
Monarch Initiative: MONDO:0032643
OMIM®: 618266
Orphanet: ORPHA611256

Authors:
Allison Gregory  |  Susan Hayflick   view full author information

Clinical features

From HPO
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Congenital vertical talus
MedGen UID:
66821
Concept ID:
C0240912
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Overlapping fingers
MedGen UID:
252954
Concept ID:
C1446712
Finding
A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
Cerebral atrophy
MedGen UID:
116012
Concept ID:
C0235946
Disease or Syndrome
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Cerebral hypoplasia
MedGen UID:
343321
Concept ID:
C1855330
Finding
Underdevelopment of the cerebrum.
Lateral ventricle dilatation
MedGen UID:
383904
Concept ID:
C1856409
Pathologic Function
Joint contracture
MedGen UID:
3228
Concept ID:
C0009918
Anatomical Abnormality
A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin. A contracture prevents movement of the associated body part.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Sloping forehead
MedGen UID:
346640
Concept ID:
C1857679
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPontocerebellar hypoplasia, type 12

Recent clinical studies

Etiology

Hecher L, Harms FL, Lisfeld J, Alawi M, Denecke J, Kutsche K
Neurogenetics 2023 Apr;24(2):79-93. Epub 2023 Jan 19 doi: 10.1007/s10048-023-00709-9. PMID: 36653678
Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I
Orphanet J Rare Dis 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4. PMID: 27430971Free PMC Article
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I
Orphanet J Rare Dis 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. PMID: 24886362Free PMC Article
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D
Orphanet J Rare Dis 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. PMID: 22452838Free PMC Article
Kalpana D, Parvathy L, Ahamed SM, Iype M, Kunju MP
Pediatr Neurol 2009 Apr;40(4):302-5. doi: 10.1016/j.pediatrneurol.2008.11.009. PMID: 19302945

Diagnosis

Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Merino-López A, Chumilla-Calzada S, García-Silva MT, Martínez-Azorín F
Neuromuscul Disord 2021 Aug;31(8):773-782. Epub 2021 May 28 doi: 10.1016/j.nmd.2021.05.008. PMID: 34210538
Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB
Am J Med Genet A 2018 Dec;176(12):2623-2629. Epub 2018 Aug 27 doi: 10.1002/ajmg.a.40493. PMID: 30151950Free PMC Article
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I
Orphanet J Rare Dis 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. PMID: 24886362Free PMC Article
Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G, McShane T
Arch Dis Child 2013 Dec;98(12):1004-7. Epub 2013 Sep 18 doi: 10.1136/archdischild-2013-304308. PMID: 24047924
Patel S, Barkovich AJ
AJNR Am J Neuroradiol 2002 Aug;23(7):1074-87. PMID: 12169461Free PMC Article

Prognosis

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
Neurology 2015 Apr 28;84(17):1745-50. Epub 2015 Apr 1 doi: 10.1212/WNL.0000000000001523. PMID: 25832664Free PMC Article
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I
Orphanet J Rare Dis 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. PMID: 24886362Free PMC Article
Lev D, Michelson-Kerman M, Vinkler C, Blumkin L, Shalev SA, Lerman-Sagie T
Eur J Paediatr Neurol 2008 Mar;12(2):97-101. Epub 2007 Jul 30 doi: 10.1016/j.ejpn.2007.06.005. PMID: 17681808

Clinical prediction guides

Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I
Orphanet J Rare Dis 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4. PMID: 27430971Free PMC Article
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
Neurology 2015 Apr 28;84(17):1745-50. Epub 2015 Apr 1 doi: 10.1212/WNL.0000000000001523. PMID: 25832664Free PMC Article
Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G, McShane T
Arch Dis Child 2013 Dec;98(12):1004-7. Epub 2013 Sep 18 doi: 10.1136/archdischild-2013-304308. PMID: 24047924
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D
Orphanet J Rare Dis 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. PMID: 22452838Free PMC Article

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