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Fowler syndrome(EPV; PVHH)

MedGen UID:
384026
Concept ID:
C1856972
Disease or Syndrome
Synonyms: ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY; HYDRANENCEPHALY, FOWLER TYPE; HYDROCEPHALY/HYDRANENCEPHALY DUE TO CEREBRAL VASCULOPATHY; Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
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): FLVCR2 (14q24.3)
 
Monarch Initiative: MONDO:0009168
OMIM®: 225790
Orphanet: ORPHA221126

Definition

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016). [from OMIM]

Clinical features

From HPO
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Hydranencephaly
MedGen UID:
6937
Concept ID:
C0020225
Congenital Abnormality
A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
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.
Akinesia
MedGen UID:
43218
Concept ID:
C0085623
Finding
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
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.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
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.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypoplasia of the musculature
MedGen UID:
66010
Concept ID:
C0240414
Finding
Underdevelopment of the musculature.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Cystic hygroma
MedGen UID:
60195
Concept ID:
C0206620
Neoplastic Process
A cystic lymphatic lesion of the neck.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Pterygium
MedGen UID:
46202
Concept ID:
C0033999
Finding
Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Premature birth
MedGen UID:
57721
Concept ID:
C0151526
Pathologic Function
The birth of a baby of less than 37 weeks of gestational age.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFowler syndrome

Professional guidelines

PubMed

Everaert K, De Muynck M, Rimbaut S, Weyers S
BJU Int 2003 Apr;91(6):497-501. doi: 10.1046/j.1464-410x.2003.04135.x. PMID: 12656902

Recent clinical studies

Etiology

Panicker JN
Continuum (Minneap Minn) 2017 Apr;23(2, Selected Topics in Outpatient Neurology):533-552. doi: 10.1212/CON.0000000000000448. PMID: 28375917
Groen LA, Hoebeke P, Loret N, Van Praet C, Van Laecke E, Ann R, Vande Walle J, Everaert K
J Urol 2012 Oct;188(4):1313-7. Epub 2012 Aug 16 doi: 10.1016/j.juro.2012.06.039. PMID: 22902022
Williams D, Patel C, Fallet-Bianco C, Kalyanasundaram K, Yacoubi M, Déchelotte P, Scott R, Bazin A, Bessières B, Marton T, Cox P
Am J Med Genet A 2010 Jan;152A(1):153-60. doi: 10.1002/ajmg.a.33094. PMID: 20014121
Everaert K, De Muynck M, Rimbaut S, Weyers S
BJU Int 2003 Apr;91(6):497-501. doi: 10.1046/j.1464-410x.2003.04135.x. PMID: 12656902

Diagnosis

Panicker JN
Continuum (Minneap Minn) 2017 Apr;23(2, Selected Topics in Outpatient Neurology):533-552. doi: 10.1212/CON.0000000000000448. PMID: 28375917
Kvarnung M, Taylan F, Nilsson D, Albåge M, Nordenskjöld M, Anderlid BM, Nordgren A, Syk Lundberg E
Clin Genet 2016 Jan;89(1):99-103. Epub 2015 Mar 4 doi: 10.1111/cge.12565. PMID: 25677735
Ku CS, Naidoo N, Pawitan Y
Hum Genet 2011 Apr;129(4):351-70. Epub 2011 Feb 18 doi: 10.1007/s00439-011-0964-2. PMID: 21331778
Williams D, Patel C, Fallet-Bianco C, Kalyanasundaram K, Yacoubi M, Déchelotte P, Scott R, Bazin A, Bessières B, Marton T, Cox P
Am J Med Genet A 2010 Jan;152A(1):153-60. doi: 10.1002/ajmg.a.33094. PMID: 20014121
Laurichesse-Delmas H, Beaufrère AM, Martin A, Kaemmerlen AG, Déchelotte P, Lémery D
Ultrasound Obstet Gynecol 2002 Dec;20(6):612-5. doi: 10.1046/j.1469-0705.2002.00830.x. PMID: 12493052

Therapy

Everaert K, De Muynck M, Rimbaut S, Weyers S
BJU Int 2003 Apr;91(6):497-501. doi: 10.1046/j.1464-410x.2003.04135.x. PMID: 12656902

Clinical prediction guides

De Luca C, Crow YJ, Rodero M, Rice GI, Ahmed M, Lammens M, De Cock P, Van Esch H, Lagae L, Rochtus A
Clin Genet 2020 Nov;98(5):423-432. Epub 2020 May 11 doi: 10.1111/cge.13761. PMID: 32333401
Khan AA, Quigley JG
Mol Aspects Med 2013 Apr-Jun;34(2-3):669-82. doi: 10.1016/j.mam.2012.07.013. PMID: 23506900Free PMC Article
Duffy SP, Shing J, Saraon P, Berger LC, Eiden MV, Wilde A, Tailor CS
Mol Cell Biol 2010 Nov;30(22):5318-24. Epub 2010 Sep 7 doi: 10.1128/MCB.00690-10. PMID: 20823265Free PMC Article
Williams D, Patel C, Fallet-Bianco C, Kalyanasundaram K, Yacoubi M, Déchelotte P, Scott R, Bazin A, Bessières B, Marton T, Cox P
Am J Med Genet A 2010 Jan;152A(1):153-60. doi: 10.1002/ajmg.a.33094. PMID: 20014121
Laurichesse-Delmas H, Beaufrère AM, Martin A, Kaemmerlen AG, Déchelotte P, Lémery D
Ultrasound Obstet Gynecol 2002 Dec;20(6):612-5. doi: 10.1046/j.1469-0705.2002.00830.x. PMID: 12493052

Recent systematic reviews

De Luca C, Crow YJ, Rodero M, Rice GI, Ahmed M, Lammens M, De Cock P, Van Esch H, Lagae L, Rochtus A
Clin Genet 2020 Nov;98(5):423-432. Epub 2020 May 11 doi: 10.1111/cge.13761. PMID: 32333401

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