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Porencephaly-microcephaly-bilateral congenital cataract syndrome(HDBSCC)

MedGen UID:
462350
Concept ID:
C3151000
Disease or Syndrome
Synonym: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
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).
 
Gene (location): JAM3 (11q25)
 
Monarch Initiative: MONDO:0013394
OMIM®: 613730
Orphanet: ORPHA306547

Definition

HDBSCC is an autosomal recessive disorder with a distinctive phenotype comprising hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Affected individuals have a catastrophic neurologic clinical course resulting in death in infancy (summary by Akawi et al., 2013). [from OMIM]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Ectopic kidney
MedGen UID:
68661
Concept ID:
C0238207
Congenital Abnormality
A developmental defect in which a kidney is located in an abnormal anatomic position.
Cystic renal dysplasia
MedGen UID:
322533
Concept ID:
C1834931
Congenital Abnormality
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Secondary microcephaly
MedGen UID:
608952
Concept ID:
C0431352
Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Optic disc pallor
MedGen UID:
108218
Concept ID:
C0554970
Finding
A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPorencephaly-microcephaly-bilateral congenital cataract syndrome
Follow this link to review classifications for Porencephaly-microcephaly-bilateral congenital cataract syndrome in Orphanet.

Professional guidelines

PubMed

Bouthry E, Picone O, Hamdi G, Grangeot-Keros L, Ayoubi JM, Vauloup-Fellous C
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Nelson LB
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Recent clinical studies

Etiology

Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
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Diagnosis

Winter AK, Moss WJ
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Javaid A, Orakzai AA
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Turk J Gastroenterol 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. PMID: 30457558Free PMC Article
Papageorgiou E, McLean RJ, Gottlob I
Pediatr Neonatol 2014 Oct;55(5):341-51. Epub 2014 Jul 31 doi: 10.1016/j.pedneo.2014.02.007. PMID: 25086850
Bouthry E, Picone O, Hamdi G, Grangeot-Keros L, Ayoubi JM, Vauloup-Fellous C
Prenat Diagn 2014 Dec;34(13):1246-53. Epub 2014 Sep 16 doi: 10.1002/pd.4467. PMID: 25066688

Therapy

Cavuoto KM, Javitt M, Chang TC
J Pediatr Ophthalmol Strabismus 2019 Nov 1;56(6):349-353. doi: 10.3928/01913913-20190923-03. PMID: 31743401
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Ophthalmic Surg 1984 Aug;15(8):688-97. PMID: 6384869

Prognosis

Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A
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Leung AKC, Hon KL, Leong KF
Hong Kong Med J 2019 Apr;25(2):134-141. Epub 2019 Apr 10 doi: 10.12809/hkmj187785. PMID: 30967519
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Kalaydjieva L
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Cassidy L, Taylor D
Eye (Lond) 1999 Jun;13 ( Pt 3b):464-73. doi: 10.1038/eye.1999.123. PMID: 10627826

Clinical prediction guides

Li X, Si N, Song Z, Ren Y, Xiao W
Orphanet J Rare Dis 2021 May 31;16(1):242. doi: 10.1186/s13023-021-01873-7. PMID: 34059112Free PMC Article
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Ionescu C, Dascalescu D, Cristea M, Schmitzer S, Cioboata M, Iancu R, Corbu C
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Kalaydjieva L
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Boniuk V
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Recent systematic reviews

Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271
Marques VM, Santos CS, Santiago IG, Marques SM, Nunes Brasil MDG, Lima TT, Costa PS
Pediatr Neurol 2019 Feb;91:3-10. Epub 2018 Nov 22 doi: 10.1016/j.pediatrneurol.2018.11.003. PMID: 30591235
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Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732
Dewan P, Gupta P
Indian Pediatr 2012 May;49(5):377-99. doi: 10.1007/s13312-012-0087-4. PMID: 22700664

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