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Lobar holoprosencephaly

MedGen UID:
96559
Concept ID:
C0431362
Congenital Abnormality
Synonyms: Holoprosencephalies, Lobar; Holoprosencephaly, Lobar; Lobar Holoprosencephalies; Lobar Holoprosencephaly
SNOMED CT: Lobar holoprosencephaly (253136007); Olfactory aplasia (253136007); Cingulosynapsis (253136007)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0006870
Monarch Initiative: MONDO:0019756
Orphanet: ORPHA93924

Definition

A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Lobar holoprosencephaly
Follow this link to review classifications for Lobar holoprosencephaly in Orphanet.

Conditions with this feature

Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Hartsfield-Bixler-Demyer syndrome
MedGen UID:
335111
Concept ID:
C1845146
Congenital Abnormality
FGFR1-related Hartsfield syndrome comprises two core features: holoprosencephaly (HPE) spectrum disorder and ectrodactyly spectrum disorder. HPE spectrum disorder, resulting from failed or incomplete forebrain division early in gestation, includes alobar, semilobar, or lobar HPE. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia. Other findings associated with the HPE spectrum such as craniofacial dysmorphism, neurologic issues (developmental delay, spasticity, seizures, hypothalamic dysfunction), feeding problems, and endocrine issues (hypogonadotropic hypogonadism and central insipidus diabetes) are common. Ectrodactyly spectrum disorders are unilateral or bilateral malformations of the hands and/or feet characterized by a median cleft of hand or foot due to absence of the longitudinal central rays (also called split-hand/foot malformation). The number of digits on the right and left can vary. Polydactyly and syndactyly can also be seen.
Holoprosencephaly 5
MedGen UID:
355304
Concept ID:
C1864827
Disease or Syndrome
Holoprosencephaly associated with mutations in the ZIC2 gene.
Cornelia de Lange syndrome 4
MedGen UID:
766431
Concept ID:
C3553517
Disease or Syndrome
Cornelia de Lange syndrome (CdLS) encompasses a spectrum of findings from mild to severe. Severe (classic) CdLS is characterized by distinctive facial features, growth restriction (prenatal onset; <5th centile throughout life), hypertrichosis, and upper-limb reduction defects that range from subtle phalangeal abnormalities to oligodactyly (missing digits). Craniofacial features include synophrys, highly arched and/or thick eyebrows, long eyelashes, short nasal bridge with anteverted nares, small widely spaced teeth, and microcephaly. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement, but often have facial features consistent with CdLS. Across the CdLS spectrum IQ ranges from below 30 to 102 (mean: 53). Many individuals demonstrate autistic and self-destructive tendencies. Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia.
Holoprosencephaly 12 with or without pancreatic agenesis
MedGen UID:
1684550
Concept ID:
C5193131
Disease or Syndrome
Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset type 1 diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Hu Y, Sun L, Feng L, Wang J, Zhu Y, Wu Q
BMC Pregnancy Childbirth 2023 May 3;23(1):312. doi: 10.1186/s12884-023-05644-z. PMID: 37138220Free PMC Article
Fujino S, Enokizono M, Ihara S, Kono T, Miyama S
BMC Neurol 2022 Aug 25;22(1):316. doi: 10.1186/s12883-022-02764-5. PMID: 36008788Free PMC Article
Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS
Eur J Med Genet 2018 May;61(5):257-261. Epub 2017 Dec 24 doi: 10.1016/j.ejmg.2017.12.011. PMID: 29278735
Takenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K
Am J Med Genet A 2012 Oct;158A(10):2537-41. Epub 2012 Aug 10 doi: 10.1002/ajmg.a.35465. PMID: 22887648
Cohen MM Jr
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Diagnosis

Hu Y, Sun L, Feng L, Wang J, Zhu Y, Wu Q
BMC Pregnancy Childbirth 2023 May 3;23(1):312. doi: 10.1186/s12884-023-05644-z. PMID: 37138220Free PMC Article
Daly T, Roberts A, Yang E, Mochida GH, Bodamer O
Am J Med Genet A 2020 Mar;182(3):441-445. Epub 2019 Dec 17 doi: 10.1002/ajmg.a.61454. PMID: 31846209
Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G, Nürnberg P, Kubisch C, Dobyns WB, Borck G
Hum Genet 2015 Jan;134(1):45-51. Epub 2014 Sep 14 doi: 10.1007/s00439-014-1487-4. PMID: 25218063
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Therapy

Chuen-im P, Smyth MD, Segura B, Ferkol T, Rivera-Spoljaric K
Pediatr Pulmonol 2012 Jan;47(1):91-5. Epub 2011 Aug 24 doi: 10.1002/ppul.21510. PMID: 22170808
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Prognosis

Steinberg JP, Brady CM, Burstein FD
J Craniofac Surg 2016 Mar;27(2):480-3. doi: 10.1097/SCS.0000000000002420. PMID: 26967082
Kehinde FI, Anderson CE, McGowan JE, Jethva RN, Wahab MA, Glick AR, Sterner MR Jr, Pascasio JM, Punnett HH, Liu J
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Clinical prediction guides

Fujino S, Enokizono M, Ihara S, Kono T, Miyama S
BMC Neurol 2022 Aug 25;22(1):316. doi: 10.1186/s12883-022-02764-5. PMID: 36008788Free PMC Article
Galante D, Fortarezza D, Caggiano M, de Francisci G, Pedrotti D, Caruselli M
Braz J Anesthesiol 2015 Sep-Oct;65(5):379-83. Epub 2014 Oct 25 doi: 10.1016/j.bjane.2014.07.003. PMID: 26323737
Takenouchi T, Okuno H, Kosaki R, Ariyasu D, Torii C, Momoshima S, Harada N, Yoshihashi H, Takahashi T, Awazu M, Kosaki K
Am J Med Genet A 2012 Oct;158A(10):2537-41. Epub 2012 Aug 10 doi: 10.1002/ajmg.a.35465. PMID: 22887648
Bertolacini CD, Ribeiro-Bicudo LA, Petrin A, Richieri-Costa A, Murray JC
Clin Genet 2012 Jan;81(1):70-5. Epub 2011 Jan 19 doi: 10.1111/j.1399-0004.2010.01606.x. PMID: 21204792Free PMC Article
Shanks DE, Wilson WG
Dev Med Child Neurol 1988 Jun;30(3):383-6. doi: 10.1111/j.1469-8749.1988.tb14565.x. PMID: 3402680

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