Orofaciodigital Syndromes [orofaciodigitální syndromy]

topical
7
Terms

Mohr syndrom
Mohrův syndrom
OFD1
OFD2
oro-facio-digitální syndrom typu I
oro-facio-digitální syndrom typu II
oro-facio-digitální syndromy
orofaciodigitální syndrom typu I
orofaciodigitální syndrom typu II
Papillon-Léage-Psaume syndrom

 

Dysplasia Linguofacialis
Gorlin-Psaume Syndrome
Mohr Syndrome
Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndrome, Type I
Oral-Facial-Digital Syndrome, Type II
Oro-Facio-Digital Syndrome
Orodigitofacial Dysostosis
Orodigitofacial Syndrome
Orofaciodigital Syndrome
Orofaciodigital Syndrome I
Orofaciodigital Syndrome II
Papillon-Leage and Psaume Syndrome

Persistent link   https://www.medvik.cz/link/D009958
Definition

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Annotation
do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
DUI
D009958 MeSH Browser
CUI
M0015438
History note
79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78; was OROFACIODIGITAL SYNDROME 1964-74 (Prov)
Online note
use OROFACIODIGITAL SYNDROMES to search OROFACIODIGITAL SYNDROME 1966-78(as Prov 1966-74)
Public note
79; was OROFACIODIGITAL SYNDROME see under ABNORMALITIES, MULTIPLE 1975-78

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 0
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 0
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 0
GE
genetics 2
HI
history 0
IM
immunology 0
ME
metabolism 1
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 0
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 0
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C05 Musculoskeletal Diseases 1 119
C05.116 Bone Diseases 792
C05.116.099 Bone Diseases, Developmental 291
C05.116.099.370 Dysostoses 22
C05.116.099.370.231 Craniofacial Dysostosis 28
C05.116.099.370.380 Focal Dermal Hypoplasia 6
C05.116.099.370.535 Klippel-Feil Syndrome 6
C05.116.099.370.652 Orofaciodigital Syndromes 7
C05.116.099.370.797 Rubinstein-Taybi Syndrome 12
C05.116.099.370.894 Synostosis 29
C05.660 Musculoskeletal Abnormalities 107
C05.660.207 Craniofacial Abnormalities 77
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 55
C05.660.207.325 Donohue Syndrome 1
C05.660.207.410 Holoprosencephaly 8
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 51
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
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 740
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 32
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 20
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
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 34
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 91
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 259
C16.131.260.830 Sex Chromosome Disorders 11
C16.131.260.830.300 Fragile X Syndrome 62
C16.131.260.830.670 Orofaciodigital Syndromes 7
C16.131.260.830.835 Sex Chromosome Disorders of Sex Development 5
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.621.207 Craniofacial Abnormalities 77
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 55
C16.131.621.207.410 Holoprosencephaly 8
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 51
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
C16.320 Genetic Diseases, Inborn 1 213
C16.320.033 Adrenal Hyperplasia, Congenital 225
C16.320.051 Alagille Syndrome 19
C16.320.060 alpha 1-Antitrypsin Deficiency 83
C16.320.070 Anemia, Hemolytic, Congenital 48
C16.320.077 Anemia, Hypoplastic, Congenital 3
C16.320.080 Ataxia Telangiectasia 47
C16.320.089 Autoimmune Lymphoproliferative Syndrome 2
C16.320.099 Blood Coagulation Disorders, Inherited 61
C16.320.100 Brugada Syndrome 40
C16.320.129 CADASIL 8
C16.320.144 Camurati-Engelmann Syndrome 6
C16.320.160 Cardiomyopathy, Hypertrophic, Familial 32
C16.320.165 CHARGE Syndrome 1
C16.320.170 Cherubism 1
C16.320.180 Chromosome Disorders 259
C16.320.180.830 Sex Chromosome Disorders 11
C16.320.180.830.300 Fragile X Syndrome 62
C16.320.180.830.670 Orofaciodigital Syndromes 7
C16.320.180.830.835 Sex Chromosome Disorders of Sex Development 5
C16.320.184 Ciliopathies 9
C16.320.188 Costello Syndrome 3
C16.320.190 Cystic Fibrosis 1 328
C16.320.215 Donohue Syndrome 1
C16.320.240 Dwarfism 97
C16.320.290 Eye Diseases, Hereditary 57
C16.320.298 Familial Multiple Lipomatosis
C16.320.306 Frasier Syndrome
C16.320.314 GATA2 Deficiency 1
C16.320.322 Genetic Diseases, X-Linked 59
C16.320.338 Genetic Diseases, Y-Linked 1
C16.320.355 Hajdu-Cheney Syndrome 6
C16.320.365 Hemoglobinopathies 68
C16.320.382 Hereditary Autoinflammatory Diseases 46
C16.320.400 Heredodegenerative Disorders, Nervous System 45
C16.320.413 Hyper-IgM Immunodeficiency Syndrome 4
C16.320.427 Hyperthyroxinemia, Familial Dysalbuminemic 1
C16.320.447 Imprinting Disorders
C16.320.467 Kallmann Syndrome 10
C16.320.480 Kartagener Syndrome 46
C16.320.488 Laminopathies 2
C16.320.495 Lennox Gastaut Syndrome 5
C16.320.510 Loeys-Dietz Syndrome 7
C16.320.540 Marfan Syndrome 105
C16.320.565 Metabolism, Inborn Errors 711
C16.320.577 Muscular Dystrophies 140
C16.320.590 Myasthenic Syndromes, Congenital 20
C16.320.600 Nail-Patella Syndrome 8
C16.320.700 Neoplastic Syndromes, Hereditary 143
C16.320.709 Oculocerebrorenal Syndrome 9
C16.320.714 Orofaciodigital Syndromes 7
C16.320.718 Osteoarthropathy, Primary Hypertrophic 127
C16.320.728 Osteochondrodysplasias 123
C16.320.737 Osteogenesis Imperfecta 106
C16.320.775 Pain Insensitivity, Congenital 10
C16.320.784 Pelger-Huet Anomaly 7
C16.320.798 Primary Immunodeficiency Diseases 45
C16.320.812 Pycnodysostosis 2
C16.320.831 Renal Tubular Transport, Inborn Errors 36
C16.320.850 Skin Diseases, Genetic 89
C16.320.925 Werner Syndrome 14
C16.320.962 Yellow Nail Syndrome

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