Page last updated: 2024-09-28

Macrostomia

Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)

Synonyms(1)

Synonym
Macrostomia

Research Excerpts

Overview

ExcerptReference
"Macrostomia is a deformity that occurs alone or in combination with other anomalies as a result of a failure of merging of the maxillary and mandibular processes of the first branchial arch."( Verheyden, CN, 1988)
"Macrostomia is a rare facial malformation caused by failure of mesodermal migration merging to obliterate the embryonic grooves between the maxillary and mandibular processes during the early phase of gestation."( Alonso, N; da Silva Freitas, R; Franco, D; Franco, T, 2007)
"Congenital macrostomia is a relatively rare deformity."( Hikosaka, M; Miyamoto, J; Nakajima, T; Ogata, H, 2009)
"Macrostomia is a rare and debilitating congenital anomaly with incompletely understood etiopathogenesis."( Eberlin, KR; Hachach-Haram, N; Hamdan, US; Kobraei, EM; Lentz, AK, 2016)

Research

Studies (30)

TimeframeStudies, This Condition (%)All Conditions %
pre-19906 (20.00)23.3326
1990's3 (10.00)12.5806
2000's11 (36.67)18.1394
2010's9 (30.00)28.8240
2020's1 (3.33)9.53
DrugIndicatedRelationship StrengthStudiesTrials
salicylic acid0low10
thymine0low10
ketamine0low10
apnea0low10
sevoflurane0low10
estriol0low10
cytidine0low10
zinc oxide0low10
propiconazole0low50
inositol 3-phosphate0medium121
phenylephrine hydrochloride0low60
sultan0low10

Protein Targets (178)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
thioredoxin reductase3003
ATAD5 protein, partial1001
TDP1 protein3003
Microtubule-associated protein tau1001
estrogen-related nuclear receptor alpha4004
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 22002
Bloom syndrome protein isoform 12002
D(1A) dopamine receptor1001
lamin isoform A-delta103003
neuropeptide S receptor isoform A1001
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE2002
EWS/FLI fusion protein1001
chromobox protein homolog 14004
Glucose transporter0101
Cdk-related protein kinase 60101
Protein kinase domain-containing protein0101
Hexose transporter 1 0101
Solute carrier family 2, facilitated glucose transporter member 10101
Deoxycytidine kinase0001
Cytidine deaminase0001
Spike glycoprotein3003
Calcium-dependent protein kinase 10101
Mitogen-activated protein kinase 0101
Proline--tRNA ligase0101
Calcium-dependent protein kinase 40101
Lysine--tRNA ligase 0101
Uridine-cytidine kinase 1 0001
GLI family zinc finger 33003
AR protein3003
estrogen receptor 2 (ER beta)2002
progesterone receptor2002
glucocorticoid receptor [Homo sapiens]3003
retinoic acid nuclear receptor alpha variant 12002
estrogen nuclear receptor alpha4004
thyroid hormone receptor beta isoform 22002
geminin4004
Voltage-dependent calcium channel gamma-2 subunit2002
Bile salt export pump0303
Estrogen receptor0202
Glucocorticoid receptor0202
Sex hormone-binding globulin0011
Glycine receptor subunit alpha-10202
Corticosteroid-binding globulin0101
Polyunsaturated fatty acid lipoxygenase ALOX150101
Androgen receptor0101
UDP-glucuronosyltransferase 2B70001
Glutamate receptor 22002
Glycine receptor subunit beta0202
Glycine receptor subunit alpha-20202
Glycine receptor subunit alpha-30202
Sodium-dependent serotonin transporter0202
Alpha-synuclein0101
Solute carrier organic anion transporter family member 1A10101
Lanosterol 14-alpha demethylase0011
Olfactory receptor 51E20011
UDP-glucuronosyltransferase 1A100001
cytochrome P450 family 3 subfamily A polypeptide 41001
pregnane X nuclear receptor2002
Glutamate receptor ionotropic, NMDA 2D0101
ATP-binding cassette sub-family C member 30101
Multidrug resistance-associated protein 40101
Acetylcholinesterase0101
Glutamate receptor ionotropic, NMDA 3B0101
Rap guanine nucleotide exchange factor 31001
Glutamate receptor ionotropic, NMDA 1 0202
Sodium channel protein type 4 subunit alpha0101
Cholinesterase0101
Glutamate receptor ionotropic, NMDA 2A 0202
Glutamate receptor ionotropic, NMDA 2B0202
Glutamate receptor ionotropic, NMDA 2C0202
Glutamate receptor ionotropic, NMDA 10202
Glutamate receptor ionotropic, NMDA 2A0202
Glutamate receptor ionotropic, NMDA 2B0202
Glutamate receptor ionotropic, NMDA 2C0101
Glutamate receptor ionotropic, NMDA 2D0202
Glutamate receptor ionotropic, NMDA 3A0101
Glutamate receptor ionotropic, NMDA 3B0202
Canalicular multispecific organic anion transporter 10101
Glutamate receptor ionotropic, NMDA 3A0202
Chain A, 2-oxoglutarate Oxygenase2002
glp-1 receptor, partial2002
RAR-related orphan receptor gamma2002
GALC protein1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
peroxisome proliferator activated receptor gamma2002
IDH11001
thyroid stimulating hormone receptor1001
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
nuclear factor erythroid 2-related factor 2 isoform 12002
Vpr1001
peripheral myelin protein 221001
5-hydroxytryptamine receptor 2A0011
Cellular tumor antigen p532002
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
Chain A, Beta-lactamase1001
Chain A, Ferritin light chain1001
pregnane X receptor1001
phosphopantetheinyl transferase1001
SMAD family member 21001
SMAD family member 31001
nuclear receptor subfamily 1, group I, member 31001
nonstructural protein 11001
retinoid X nuclear receptor alpha2002
farnesoid X nuclear receptor1001
peroxisome proliferator-activated receptor delta1001
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)1001
aryl hydrocarbon receptor1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
vitamin D3 receptor isoform VDRA1001
thyroid hormone receptor beta isoform a1001
heat shock protein HSP 90-alpha isoform 20001
DNA polymerase iota isoform a (long)1001
nuclear receptor ROR-gamma isoform 11001
Polyunsaturated fatty acid lipoxygenase ALOX15B1001
Cytochrome P450 3A40101
Histamine H2 receptor1001
Guanine nucleotide-binding protein G1001
TAR DNA-binding protein 431001
ATPase family AAA domain-containing protein 51001
Ataxin-21001
heat shock protein 90, putative0001
chaperonin-containing TCP-1 beta subunit homolog1001
aldehyde dehydrogenase 1 family, member A11001
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 11001
survival motor neuron protein isoform d1001
histone acetyltransferase KAT2A isoform 11001
Estrogen receptor beta0001
Inhibitor of nuclear factor kappa-B kinase subunit beta0001
Solute carrier family 22 member 60101
Polyphenol oxidase 20102
Carbonic anhydrase 120101
5'-AMP-activated protein kinase subunit beta-20001
Bile salt export pump0101
Carbonic anhydrase 10202
Carbonic anhydrase 20202
Albumin0101
Polymerase acidic protein0011
Carbonic anhydrase 30101
Stromelysin-10011
Tyrosine-protein phosphatase YopH0101
High mobility group protein B10011
Aldo-keto reductase family 1 member B10101
Prolyl 4-hydroxylase subunit alpha-10101
Tyrosine-protein phosphatase non-receptor type 10103
Estrogen receptor0001
Acetylcholinesterase0101
Carbonic anhydrase 40101
Prostaglandin G/H synthase 10101
Carbonic anhydrase 60101
Cystathionine gamma-lyase0101
Carbonic anhydrase 5A, mitochondrial0101
Prostaglandin G/H synthase 20101
Carbonic anhydrase 70101
5'-AMP-activated protein kinase subunit gamma-10001
5'-AMP-activated protein kinase catalytic subunit alpha-20001
Xanthine dehydrogenase/oxidase0101
5'-AMP-activated protein kinase catalytic subunit alpha-10001
Carbonic anhydrase 90101
Carbonic anhydrase0101
Solute carrier family 22 member 60101
Solute carrier family 22 member 70001
Nicotinate phosphoribosyltransferase0101
Solute carrier family 22 member 200101
Solute carrier family 22 member 80101
Solute carrier family 22 member 60101
Ubiquitin-like domain-containing CTD phosphatase 10101
Carbonic anhydrase 150101
Carbonic anhydrase 130101
5'-AMP-activated protein kinase subunit gamma-30001
5'-AMP-activated protein kinase subunit gamma-20001
Carbonic anhydrase 140101
Carbonic anhydrase 5B, mitochondrial0101
5'-AMP-activated protein kinase subunit beta-10001
Thymidine phosphorylase0101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]