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Arrhinencephaly

MedGen UID:
36258
Concept ID:
C0078982
Congenital Abnormality
Synonyms: Arhinencephalies; Arhinencephaly
 
HPO: HP:0002139
OMIM®: 236100

Definition

A defect of development of the brain characterized by congenital absence of the part of the brain that includes the olfactory bulbs, tracts, and other structures associated with the sense of smell. [from HPO]

Conditions with this feature

Fryns syndrome
MedGen UID:
65088
Concept ID:
C0220730
Disease or Syndrome
Fryns syndrome is characterized by diaphragmatic defects (diaphragmatic hernia, eventration, hypoplasia, or agenesis); characteristic facial appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy corneas and/or microphthalmia, orofacial clefting, renal dysplasia / renal cortical cysts, and/or malformations involving the brain, cardiovascular system, gastrointestinal system, and/or genitalia). Survival beyond the neonatal period is rare. Data on postnatal growth and psychomotor development are limited; however, severe developmental delay and intellectual disability are common.
CHARGE syndrome
MedGen UID:
75567
Concept ID:
C0265354
Disease or Syndrome
CHD7 disorder encompasses the entire phenotypic spectrum of heterozygous CHD7 pathogenic variants that includes CHARGE syndrome as well as subsets of features that comprise the CHARGE syndrome phenotype. The mnemonic CHARGE syndrome, introduced in the premolecular era, stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies (including deafness). Following the identification of the genetic cause of CHD7 disorder, the phenotypic spectrum expanded to include cranial nerve anomalies, vestibular defects, cleft lip and/or palate, hypothyroidism, tracheoesophageal anomalies, brain anomalies, seizures, and renal anomalies. Life expectancy highly depends on the severity of manifestations; mortality can be high in the first few years when severe birth defects (particularly complex heart defects) are present and often complicated by airway and feeding issues. In childhood, adolescence, and adulthood, decreased life expectancy is likely related to a combination of residual heart defects, infections, aspiration or choking, respiratory issues including obstructive and central apnea, and possibly seizures. Despite these complications, the life expectancy for many individuals can be normal.
Fetal akinesia syndrome, X-linked
MedGen UID:
341166
Concept ID:
C1848171
Disease or Syndrome
Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.
Yunis-Varon syndrome
MedGen UID:
341818
Concept ID:
C1857663
Disease or Syndrome
Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Orofaciodigital syndrome type 6
MedGen UID:
411200
Concept ID:
C2745997
Disease or Syndrome
Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Joubert syndrome 18
MedGen UID:
766672
Concept ID:
C3553758
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
MedGen UID:
864138
Concept ID:
C4015701
Disease or Syndrome
A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
Microcephaly 20, primary, autosomal recessive
MedGen UID:
1641618
Concept ID:
C4693572
Congenital Abnormality

Professional guidelines

PubMed

Mandel AM
Handb Clin Neurol 2020;171:291-311. doi: 10.1016/B978-0-444-64239-4.00015-1. PMID: 32736756
Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996
Voutetakis A, Sertedaki A, Dacou-Voutetakis C
Curr Opin Pediatr 2016 Aug;28(4):545-50. doi: 10.1097/MOP.0000000000000378. PMID: 27386973

Recent clinical studies

Etiology

Kozma C, Ramasethu J
Am J Med Genet A 2011 Jul;155A(7):1723-8. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34037. PMID: 21671374
Cohen MM Jr
Birth Defects Res A Clin Mol Teratol 2006 Sep;76(9):658-73. doi: 10.1002/bdra.20295. PMID: 17001700
Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E
Am J Med Genet A 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. PMID: 15793832
Baetz-Greenwalt B, Ratliff NB, Moodie DS
J Pediatr 1983 Sep;103(3):399-401. doi: 10.1016/s0022-3476(83)80411-9. PMID: 6886905
McDermott A, Insley J, Barton ME, Roowe P, Edwards JH, Cameron AH
J Med Genet 1968 Mar;5(1):60-7. doi: 10.1136/jmg.5.1.60. PMID: 5653872Free PMC Article

Diagnosis

Balci S, Güçer S, Orhan D, Karagöz T
Turk J Pediatr 2008 Nov-Dec;50(6):595-9. PMID: 19227428
Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E
Am J Med Genet A 2003 Jan 15;116A(2):179-82; discussion 183. doi: 10.1002/ajmg.a.10763. PMID: 12494439
Chen CP, Devriendt K, Lee CC, Chen WL, Wang W, Wang TY
Prenat Diagn 1999 Oct;19(10):986-9. PMID: 10521829
Chen H
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Butler LJ, Reiss HE, France NE, Briddon S
J Med Genet 1973 Dec;10(4):367-70. doi: 10.1136/jmg.10.4.367. PMID: 4129972Free PMC Article

Prognosis

Kozma C, Ramasethu J
Am J Med Genet A 2011 Jul;155A(7):1723-8. Epub 2011 Jun 10 doi: 10.1002/ajmg.a.34037. PMID: 21671374
Balci S, Güçer S, Orhan D, Karagöz T
Turk J Pediatr 2008 Nov-Dec;50(6):595-9. PMID: 19227428
Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E
Am J Med Genet A 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. PMID: 15793832
Heling KS, Tennstedt C, Chaoui R
Prenat Diagn 2003 Apr;23(4):315-8. doi: 10.1002/pd.580. PMID: 12673637
Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E
Am J Med Genet A 2003 Jan 15;116A(2):179-82; discussion 183. doi: 10.1002/ajmg.a.10763. PMID: 12494439

Clinical prediction guides

Teixeira L, Guimiot F, Dodé C, Fallet-Bianco C, Millar RP, Delezoide AL, Hardelin JP
J Clin Invest 2010 Oct;120(10):3668-72. doi: 10.1172/JCI43699. PMID: 20940512Free PMC Article
Chen CP, Devriendt K, Lee CC, Chen WL, Wang W, Wang TY
Prenat Diagn 1999 Oct;19(10):986-9. PMID: 10521829
Kargas SA, Kargas GA, Chandra S, Wu SQ, Meisner LF
Am J Med Genet Suppl 1987;3:161-6. doi: 10.1002/ajmg.1320280520. PMID: 3130851
Funderburk SJ, Sparkes RS, Klisak I
Hum Genet 1977 Nov 10;39(2):243-50. doi: 10.1007/BF00287020. PMID: 598834

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