Holoprosencephaly [holoprosencefalie]

topical
9
Terms

alobární holoprosencefalie
alobární holoprozencefalie
arhinencefalie
arinencefalie
holoprosencefalie lobárního typu
holoprozencefalie
lobární holoprosencefalie
lobární holoprozencefalie
semilobární holoprosencefalie
semilobární holoprozencefalie

 

Alobar Holoprosencephaly
Arhinencephaly
Holoprosencephaly, Familial Alobar
Lobar Holoprosencephaly
Semilobar Holoprosencephaly

Persistent link   https://www.medvik.cz/link/D016142
Definition

Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

DUI
D016142 MeSH Browser
CUI
M0024659
Previous indexing
Abnormalities, Multiple (1966-1990); Brain/abnormalities (1966-1990)
History note
91
Public note
91

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification 1
CO
complications
DI
diagnosis 4
DG
diagnostic imaging 2
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 3
GE
genetics 1
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology 1
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery 1
TH
therapy 2
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 125
C05.660 Musculoskeletal Abnormalities 107
C05.660.207 Craniofacial Abnormalities 82
C05.660.207.103 22q11 Deletion Syndrome 2
C05.660.207.207 Cleidocranial Dysplasia 7
C05.660.207.219 Costello Syndrome 3
C05.660.207.231 Craniofacial Dysostosis 28
C05.660.207.240 Craniosynostoses 56
C05.660.207.325 Donohue Syndrome 1
C05.660.207.410 Holoprosencephaly 9
C05.660.207.525 LEOPARD Syndrome 11
C05.660.207.532 Loeys-Dietz Syndrome 7
C05.660.207.536 Megalencephaly 7
C05.660.207.540 Maxillofacial Abnormalities 28
C05.660.207.620 Microcephaly 78
C05.660.207.690 Noonan Syndrome 52
C05.660.207.700 Orofaciodigital Syndromes 7
C05.660.207.707 Plagiocephaly 3
C05.660.207.720 Platybasia 12
C05.660.207.850 Rubinstein-Taybi Syndrome 12
C05.660.207.925 Silver-Russell Syndrome 3
C10 Nervous System Diseases 1 884
C10.500 Nervous System Malformations 82
C10.500.034 Agenesis of Corpus Callosum 12
C10.500.034.500 Acrocallosal Syndrome 1
C10.500.034.687 Aicardi Syndrome
C10.500.034.875 Holoprosencephaly 9
C10.500.034.937 Septo-Optic Dysplasia 15
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 753
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 9
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
C16.131.260 Chromosome Disorders 260
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.040 Angelman Syndrome 35
C16.131.260.080 Beckwith-Wiedemann Syndrome 17
C16.131.260.090 Branchio-Oto-Renal Syndrome 5
C16.131.260.190 Cri-du-Chat Syndrome 11
C16.131.260.210 De Lange Syndrome 4
C16.131.260.260 Down Syndrome 510
C16.131.260.380 Holoprosencephaly 9
C16.131.260.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.131.260.700 Prader-Willi Syndrome 92
C16.131.260.790 Rubinstein-Taybi Syndrome 12
C16.131.260.830 Sex Chromosome Disorders 12
C16.131.260.870 Silver-Russell Syndrome 3
C16.131.260.887 Smith-Magenis Syndrome 2
C16.131.260.905 Sotos Syndrome 4
C16.131.260.923 Trisomy 13 Syndrome 6
C16.131.260.932 Trisomy 18 Syndrome 5
C16.131.260.940 WAGR Syndrome 3
C16.131.260.970 Williams Syndrome 22
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.621.207 Craniofacial Abnormalities 82
C16.131.621.207.103 22q11 Deletion Syndrome 2
C16.131.621.207.207 Cleidocranial Dysplasia 7
C16.131.621.207.231 Craniofacial Dysostosis 28
C16.131.621.207.240 Craniosynostoses 56
C16.131.621.207.410 Holoprosencephaly 9
C16.131.621.207.525 LEOPARD Syndrome 11
C16.131.621.207.532 Megalencephaly 7
C16.131.621.207.540 Maxillofacial Abnormalities 28
C16.131.621.207.620 Microcephaly 78
C16.131.621.207.690 Noonan Syndrome 52
C16.131.621.207.700 Orofaciodigital Syndromes 7
C16.131.621.207.707 Plagiocephaly 3
C16.131.621.207.720 Platybasia 12
C16.131.621.207.850 Rubinstein-Taybi Syndrome 12
C16.131.666 Nervous System Malformations 82
C16.131.666.034 Agenesis of Corpus Callosum 12
C16.131.666.034.500 Acrocallosal Syndrome 1
C16.131.666.034.687 Aicardi Syndrome
C16.131.666.034.875 Holoprosencephaly 9
C16.131.666.034.937 Septo-Optic Dysplasia 15
C16.320 Genetic Diseases, Inborn 1 215
C16.320.180 Chromosome Disorders 260
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.040 Angelman Syndrome 35
C16.320.180.080 Beckwith-Wiedemann Syndrome 17
C16.320.180.090 Branchio-Oto-Renal Syndrome 5
C16.320.180.190 Cri-du-Chat Syndrome 11
C16.320.180.210 De Lange Syndrome 4
C16.320.180.260 Down Syndrome 510
C16.320.180.380 Holoprosencephaly 9
C16.320.180.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.320.180.700 Prader-Willi Syndrome 92
C16.320.180.790 Rubinstein-Taybi Syndrome 12
C16.320.180.830 Sex Chromosome Disorders 12
C16.320.180.870 Silver-Russell Syndrome 3
C16.320.180.887 Smith-Magenis Syndrome 2
C16.320.180.905 Sotos Syndrome 4
C16.320.180.923 Trisomy 13 Syndrome 6
C16.320.180.932 Trisomy 18 Syndrome 5
C16.320.180.940 WAGR Syndrome 3
C16.320.180.970 Williams Syndrome 22
C16.320.180.985 Wolf-Hirschhorn Syndrome

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