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==Causes==
*Fetal aminopterinlike syndrome
*Chromosome 9p deletion syndrome
*Emanuel syndrome
*Turner syndrome
*Noonan syndrome
*Branchiooculofacial syndrome
*Cardiofaciocutaneous syndrome
*Contractural arachnodactyly
*FreemanSheldon syndrome
*Kabuki makeup syndrome
*Marfan syndrome
*Metaphyseal chondrodysplasia, Jansen type
*Muenke syndrome
*RubinsteinTaybi syndrome
*SaethreChotzen syndrome
*Spondyloepiphyseal dysplasia congenita
*AlAwadi syndrome
*Crisponi syndrome
*Cystathionine betasynthase deficiency
*Fetal akinesiahypokinesia sequence
*Friedreich ataxia
*Orofaciodigital syndrome type 4
*Pseudoxanthoma elasticum
*Zellweger spectrum
*Lowe syndrome
*LujanFryns syndrome
46,XY chromosome 7 deletion p13p21


Fetal aminopterin-like syndrome
A
Acrocephalopolysyndactyly, type 2 (ACPS 2) 
Acrocephalosyndactyly Syndrome type 5 
Acrocephalosyndactyly type 5 (ACPS 5) 
Adducted thumb syndrome recessive form 
Adducted thumbs  arthrogryposis, Christian type 
Adrenoleukodystrophy, autosomal, neonatal form 
Al Awadi syndrome 
Al AwadiRaasRothschild syndrome 
Amastia, bilateral, with ureteral triplication and dysmorphism
Anophthalmia  hand and foot defects  mental retardation 
Armendares syndrome 
Arthrogryposis multiplex congenita  pulmonary hypoplasia 
Arthrogryposis multiplex congenita type 2B 
Arthrogryposis, distal, type 2E 


Chromosomal abnormalities
B
Bd syndrome 
BenAriShuperMimouni syndrome 
BindewaldUlmerMuller syndrome 
Blepharophimosis telecanthus microstomia 
Blepharoptosis  aortic anomaly 
BlethenWenickHawkins syndrome 
Body skin hyperlaxity due to vitamin Kdependent coagulation factor deficiency 
BrachmannDe Lange Syndrome 
Branchial arch syndrome Xlinked 
Branchioskeletogenital syndrome 


Chromosome 9p deletion syndrome
C
Emanuel syndrome
Cerebrooculonasal syndrome 
Turner syndrome
Cerebrorenodigital syndrome 
ChitayatMooreDel Bigio syndrome 
Chromosome 14, trisomy mosaic 
Chromosome 14q, terminal deletion
Chromosome 19q13.11 Deletion syndrome
Chromosome 2, monosomy 2pter p24 
Chromosome 22q13 deletion 
Chromosome 22q13.3 deletion syndrome
Chromosome 3, trisomy 3q 
Chromosome 5, Trisomy 5p 
Chromosome 5p duplication syndrome
Chromosome 6, partial trisomy 6q 
Chromosome 7, Partial Deletion of Short Arm 
Chromosome 7, partial monosomy 7p 
Chromosome 9, Trisomy 9p (Multiple Variants) 
Clavicle, pseudoarthrosis of, congenital 
Coldinduced sweating syndrome 2 
CollinsDennisClarkePope Syndrome 
Congenital fiber type disproportion 
Congenital heart disease  radio ulnar synostosis  mental retardation 
Cornelia de Lange syndrome 1 
Corpus callosum agenesis double urinary collecting 
Corpus callosum agenesis double urinary collecting system and trigonocephaly 
Craniolenticulosutural dysplasia 
Craniosynostosis  intracranial calcifications 
Crumpled helices and small mouth 
Cutis Laxa with Bone Dystrophy 
Cutis Laxa with Growth and Developmental Delay 
Cutis Laxa with or without Congenital Disorder of Glycosylation 
Cutis Laxa, Autosomal Recessive, Type IIA 
Cutis Laxa, Debre Type 
Cutis laxa, recessive type 2 
Cyclophosphamide  Teratogenic Agent 


Mendelian inherited conditions
D
Del (2) (q37.1qter) 
Delayed speech  facial asymmetry  strabismus  ear lobe creases 
Deletion 22q13 
Deletion 5p 
Dennis cohen syndrome 
DiGeorge syndrome 
Distal arthrogryposis, MooreWeaver type 
Distal trisomy 6q 
Double Upper and Lower Lip  Hypertelorism  Ptosis  Blepharophimosis  clinodactyly 
Dup (1) (q42qter) & del (18p) 
Duplication 5p 
Duplication 6q, partial 
Dursun Syndrome 
Dysharmonic skeletal maturation  muscular fiber disproportion 


Noonan syndrome
E
EhlersDanlos syndrome with periventricular heterotopia 
Emanuel syndrome 
EmeryNelson syndrome 
 
F
Faciodigitogenital syndrome, recessive form 
FaraChlupackova syndrome 
Fetal ricin syndrome 
FragileX Syndrome 
FranceschettiKlein syndrome 
FranceschiniVardeuGuala syndrome 
Fraser Syndrome 
Fried syndrome 
 
G
German syndrome 
 
H
Harper dwarfism 
Harrod Doman Keele syndrome 
Holoprosencephaly deletion 2p 
Homocystinuria 
Homocystinuria due to cystathionine betasynthase deficiency 
Homocystinuria due to defect in methylation cbl e 
HunterCarpenterMacdonald syndrome 
Hypoglossia with Situs Inversus 
Hypogonadism  mitral valve prolapse  mental retardation 
Hypotonic sclerotic muscular dystrophy 
 
I
Impossible syndrome 
Infantile sialic acid storage disorder 
Intellectual deficit  multiple anomalies 
Intracranial aneurysms  multiple congenital anomaly 
 
K
KasznicaCarlsonCoppedge syndrome 
Keutel syndrome 2 
Koussef nichols syndrome 
KousseffNichols syndrome 
KurczynskiCasperson syndrome 
 
L
Lateral meningocele syndrome 
Lathosterolosis 
Lumbar malsegmentation  short stature 
Lumbar malsegmentation, short stature and facial anomalies 
 
M
MadokoroOhdoSonoda syndrome 
MardenWalker Syndrome 
Mastocytosis  short stature  hearing loss 
Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia 
McDonough syndrome 
Mehes syndrome 
MelhemFahl syndrome 
Mental retardation  arachnodactyly  hypotonia  telangiectasia 
Mental retardation  hypotonic facies syndrome, Xlinked, 1 
Mental retardation  myopathy  short stature  endocrine defect 
Mental retardation  short stature  heart and skeletal anomalies 
Mental retardation athetosis microphthalmia 
Mental retardation unusual facies ampola type 
Mental retardation, Buenos Aires type 
Mental retardation, Xlinked syndromic 14 
Mental retardation, Xlinked, 2 
Mental retardation, Xlinked, 91 
Mental retardation, Xlinked, Vitale type 
Mesomelia radial hypoplasia bifid thumb unusual facies 
Metaphyseal chondrodysplasia, recessive type 
Methimazole  Teratogenic Agent 
Mickleson syndrome 
Microcephaly  deafness syndrome 
Microcephaly  glomerulonephritis  Marfanoid habitus 
Microcephaly, hiatal hernia and nephrotic syndrome 
Microphthalmia syndromic, type 6 
Minicore myopathy with external ophthalmoplegia 
Minicore myopathy, antenatal onset, with arthrogryposis 
Montefiore syndrome 
Mullerian derivatives  lymphangiectasia  polydactyly 
Multicore disease 
Multiple joint dislocations  metaphyseal dysplasia 
Muscular dystrophy  white matter spongiosis 
Muscular dystrophy, congenital, merosinpositive 
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 
Myopathy congenital multicore with external ophthalmoplegia 
Myopathy with lactic acidosis and sideroblastic anemia 
Myopathy, congenital fibertype disproportion 
Myopathy, Congenital, ComptonNorth 
 
N
Nemaline myopathy 4 
Nephrosis neuronal dysmigration Syndrome 
Nguyen syndrome 
Night blindness  skeletal anomalies  unusual facies 
 
O
Oculocerebral hypopigmentation syndrome, type Preus 
OpitzReynoldsFitzgerald syndrome 
Oral facial digital syndrome, type 4 
Orofaciodigital syndrome type I 
Orofaciodigital syndrome type1 
Orofaciodigital syndrome, Shashi type 
Osteosclerosis, abnormalities of nervous system and meninges 
 
P
Partial 7p Monosomy 
Partial deletion of Y 
PattersonStevenson syndrome 
Pena Shokeir syndrome, type 1 
Peroxisomal bifunctional enzyme deficiency 
Phocomelia  thrombocytopenia  encephalocele  urogenital malformation 
Pilo dento ungular dysplasia  microcephaly 
PittHopkins syndrome 
Polydactyly cleft lip palate psychomotor retardation 
Pseudoxanthoma elasticum, dominant form 
Pseudoxanthoma elasticum, forme fruste 
Pseudoxanthoma elasticum, recessive form 
Ptosis  strabismus  ectopic pupils 
 
Q
Quattrin mcpherson syndrome 
 
R
Radio digito  facial dysplasia 
Radio renal syndrome 
Radioulnar synostosis mental retardation hypotonia 
Rapadilino syndrome 
Renal dysplasia  limb defects syndrome 
Retention of tears  ectrodactyly  ectodermal dysplasia  strange hair, skin and teeth 
Rhizomelic syndrome 
RichieriCosta Pereira syndrome 
RichieriCostaSilveiraPereira syndrome 
RommenMuellerSybert syndrome 
RubinsteinTaybi like syndrome 
 
S
SaethreChotzen syndrome, chromosome 7 p15.3p21.3 
SayBarberMiller syndrome 
Short stature  valvular heart disease 
Short stature valvular heart disease characteristic facies 
SimpsonGolabiBehmel syndrome, type 2 
Skeletal dysplasia  mental retardation 
Sketetal dysplasia coarse facies mental retardation 
Spastic diplegia, infantile type 
Spinal muscular atrophy, type I, with congenital bone fractures 
Spondylohypoplasia arthrogryposis popliteal pterygium 
Spondylohypoplasia, arthrogryposis and popliteal pterygium 
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features 
StrattonParker syndrome 
 
T
TeebiShaltout syndrome 
TelHashomer camptodactyly syndrome 
Thiele syndrome 
Thin ribs  tubular bones  dysmorphism 
Thiolase deficiency 
Trigonocephaly  bifid nose  acral anomalies 
Trigonocephaly  ptosis  coloboma 
Trisomy 10 mosaicism 
Trisomy 14 Mosaic 
Trisomy 14 Mosaicism Syndrome 
Trisomy 21 mosaicism 
Turnermongolism polysyndrome 
 
U
Unusual facies, osteosarcoma and malformation syndrome 
 
V
Van der Woude syndrome 
Van der Woude syndrome 2 
Velofacioskeletal syndrome 
Von voss Cherstvoy syndrome 
 
W
Waaler Aarskog syndrome 
Weaver Syndrome 
WiedemannTolksdorf syndrome 
 
Z
Zellwegerlike syndrome, without peroxisomal anomalies 
 
More Information About
 
: Introduction
Symptom combinations for
 
List of 242 causes of


Autosomal dominant conditions
This section shows a full list of all the diseases and conditions listed as a possible cause of  in our database from various sources.


Branchio-oculo-facial syndrome
46,XY chromosome 7 deletion p13p21 
Acrocephalopolysyndactyly, type 2 (ACPS 2) 
Acrocephalosyndactyly Syndrome type 5 
Acrocephalosyndactyly type 5 (ACPS 5) 
Adducted thumb syndrome recessive form 
Adducted thumbs  arthrogryposis, Christian type 
Adrenoleukodystrophy, autosomal, neonatal form 
Al Awadi syndrome 
Al AwadiRaasRothschild syndrome 
Amastia, bilateral, with ureteral triplication and dysmorphism 
Anophthalmia  hand and foot defects  mental retardation 
Armendares syndrome 
Arthrogryposis multiplex congenita  pulmonary hypoplasia 
Arthrogryposis multiplex congenita type 2B 
Arthrogryposis, distal, type 2E 
Bd syndrome 
BenAriShuperMimouni syndrome 
BindewaldUlmerMuller syndrome 
Blepharophimosis telecanthus microstomia 
Blepharoptosis  aortic anomaly 
BlethenWenickHawkins syndrome 
Body skin hyperlaxity due to vitamin Kdependent coagulation factor deficiency 
BrachmannDe Lange Syndrome 
Branchial arch syndrome Xlinked 
Branchioskeletogenital syndrome 
Cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome
Contractural arachnodactyly
Cerebrooculonasal syndrome 
Freeman-Sheldon syndrome
Cerebrohepatorenal syndrome
Kabuki make-up syndrome
Cerebrorenodigital syndrome 
Marfan syndrome
ChitayatMooreDel Bigio syndrome 
Chromosome 14, trisomy mosaic 
Chromosome 14q, terminal deletion 
Chromosome 19q13.11 Deletion syndrome 
Chromosome 2, monosomy 2pter p24 
Chromosome 22q13 deletion 
Chromosome 22q13.3 deletion syndrome 
Chromosome 3, trisomy 3q 
Chromosome 5, Trisomy 5p 
Chromosome 5p duplication syndrome 
Chromosome 6, partial trisomy 6q 
Chromosome 7, Partial Deletion of Short Arm 
Chromosome 7, partial monosomy 7p 
Chromosome 9, Trisomy 9p (Multiple Variants) 
Clavicle, pseudoarthrosis of, congenital 
Coldinduced sweating syndrome 2 
CollinsDennisClarkePope Syndrome 
Congenital fiber type disproportion 
Congenital heart disease  radio ulnar synostosis  mental retardation 
Cornelia de Lange syndrome 1 
Corpus callosum agenesis double urinary collecting 
Corpus callosum agenesis double urinary collecting system and trigonocephaly 
Craniolenticulosutural dysplasia 
Craniosynostosis  intracranial calcifications 
Crumpled helices and small mouth 
Cutis Laxa with Bone Dystrophy 
Cutis Laxa with Growth and Developmental Delay 
Cutis Laxa with or without Congenital Disorder of Glycosylation 
Cutis Laxa, Autosomal Recessive, Type IIA 
Cutis Laxa, Debre Type 
Cutis laxa, recessive type 2 
Cyclophosphamide  Teratogenic Agent 
Cystathionine betasynthase deficiency
Del (2) (q37.1qter) 
Delayed speech  facial asymmetry  strabismus  ear lobe creases 
Deletion 22q13 
Deletion 5p 
Dennis cohen syndrome 
DiGeorge syndrome 
Distal arthrogryposis, MooreWeaver type 
Distal trisomy 6q 
Double Upper and Lower Lip  Hypertelorism  Ptosis  Blepharophimosis  clinodactyly 
Dup (1) (q42qter) & del (18p) 
Duplication 5p 
Duplication 6q, partial 
Dursun Syndrome 
Dysharmonic skeletal maturation  muscular fiber disproportion 
EhlersDanlos syndrome with periventricular heterotopia 
Emanuel syndrome 
EmeryNelson syndrome 
Faciodigitogenital syndrome, recessive form 
FaraChlupackova syndrome 
Fetal akinesiahypokinesia sequence
Fetal aminopterinlike syndrome
Fetal ricin syndrome 
FragileX Syndrome 
FranceschettiKlein syndrome 
FranceschiniVardeuGuala syndrome 
Fraser Syndrome 
Fried syndrome 
Friedreich's ataxia
Friedrich's ataxia
German syndrome 
Harper dwarfism 
Harrod Doman Keele syndrome 
Holoprosencephaly deletion 2p 
Homocystinuria 
Homocystinuria due to cystathionine betasynthase deficiency 
Homocystinuria due to defect in methylation cbl e 
HunterCarpenterMacdonald syndrome 
Hypoglossia with Situs Inversus 
Hypogonadism  mitral valve prolapse  mental retardation 
Hypotonic sclerotic muscular dystrophy 
Impossible syndrome
Infantile sialic acid storage disorder 
Intellectual deficit  multiple anomalies 
Intracranial aneurysms  multiple congenital anomaly 
Kabuki makeup syndrome
KasznicaCarlsonCoppedge syndrome 
Keutel syndrome 2 
Koussef nichols syndrome 
KousseffNichols syndrome 
KurczynskiCasperson syndrome 
Lateral meningocele syndrome 
Lathosterolosis 
Lowe syndrome
LujanFryns syndrome
Lumbar malsegmentation  short stature 
Lumbar malsegmentation, short stature and facial anomalies 
MadokoroOhdoSonoda syndrome 
MardenWalker Syndrome 
Marfan's syndrome
Mastocytosis  short stature  hearing loss 
Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia 
McDonough syndrome 
Mehes syndrome
MelhemFahl syndrome 
Mental retardation  arachnodactyly  hypotonia  telangiectasia 
Mental retardation  hypotonic facies syndrome, Xlinked, 1 
Mental retardation  myopathy  short stature  endocrine defect 
Mental retardation  short stature  heart and skeletal anomalies 
Mental retardation athetosis microphthalmia 
Mental retardation unusual facies ampola type 
Mental retardation, Buenos Aires type 
Mental retardation, Xlinked syndromic 14 
Mental retardation, Xlinked, 2 
Mental retardation, Xlinked, 91 
Mental retardation, Xlinked, Vitale type 
Mesomelia radial hypoplasia bifid thumb unusual facies 
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, recessive type 
Methimazole  Teratogenic Agent 
Mickleson syndrome 
Microcephaly  deafness syndrome 
Microcephaly  glomerulonephritis  Marfanoid habitus 
Microcephaly, hiatal hernia and nephrotic syndrome 
Microphthalmia syndromic, type 6 
Minicore myopathy with external ophthalmoplegia 
Minicore myopathy, antenatal onset, with arthrogryposis 
Montefiore syndrome 
Muenke syndrome
Muenke syndrome
Rubinstein-Taybi syndrome
Mullerian derivatives  lymphangiectasia  polydactyly 
Saethre-Chotzen syndrome
Multicore disease 
Spondyloepiphyseal dysplasia congenita
Multiple joint dislocations  metaphyseal dysplasia 
 
Muscular dystrophy  white matter spongiosis 
Autosomal recessive conditions
Muscular dystrophy, congenital, merosinpositive 
 
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency 
Al-Awadi syndrome
Myopathy congenital multicore with external ophthalmoplegia 
Crisponi syndrome
Myopathy with lactic acidosis and sideroblastic anemia 
Cystathionine beta-synthase deficiency
Myopathy, congenital fibertype disproportion 
Fetal akinesia-hypokinesia sequence
Myopathy, Congenital, ComptonNorth 
Friedreich ataxia
Nemaline myopathy 4 
Nephrosis neuronal dysmigration Syndrome 
Nguyen syndrome 
Night blindness  skeletal anomalies  unusual facies 
Noonan syndrome
Noonan's syndrome
Normal variant
Oculocerebral hypopigmentation syndrome, type Preus 
OpitzReynoldsFitzgerald syndrome 
Oral facial digital syndrome, type 4 
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type 4
Orofaciodigital syndrome type I 
Orofaciodigital syndrome type1 
Orofaciodigital syndrome, Shashi type 
Osteosclerosis, abnormalities of nervous system and meninges 
Partial 7p Monosomy 
Partial deletion of Y 
PattersonStevenson syndrome 
Pena Shokeir syndrome, type 1 
Peroxisomal bifunctional enzyme deficiency 
Pfieffer syndrome
Phocomelia  thrombocytopenia  encephalocele  urogenital malformation 
Pierre Robin syndrome
Pilo dento ungular dysplasia  microcephaly 
PittHopkins syndrome 
Polydactyly cleft lip palate psychomotor retardation 
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum
Zellweger spectrum
Pseudoxanthoma elasticum dominant type 2
 
Pseudoxanthoma elasticum, dominant form 
X-linked inherited conditions
Pseudoxanthoma elasticum, forme fruste 
 
Pseudoxanthoma elasticum, recessive form 
Lowe syndrome
Ptosis  strabismus  ectopic pupils 
Lujan-Fryns syndrome
Quattrin mcpherson syndrome 
Radio digito  facial dysplasia 
Radio renal syndrome 
Radioulnar synostosis mental retardation hypotonia 
Rapadilino syndrome 
Renal dysplasia  limb defects syndrome 
Retention of tears  ectrodactyly  ectodermal dysplasia  strange hair, skin and teeth 
Rhizomelic syndrome 
RichieriCosta Pereira syndrome 
RichieriCostaSilveiraPereira syndrome 
RommenMuellerSybert syndrome 
RubinsteinTaybi like syndrome 
RubinsteinTaybi syndrome
SaethreChotzen syndrome
SaethreChotzen syndrome, chromosome 7 p15.3p21.3 
SayBarberMiller syndrome 
Short stature  valvular heart disease 
Short stature valvular heart disease characteristic facies 
SimpsonGolabiBehmel syndrome, type 2 
Skeletal dysplasia  mental retardation 
Sketetal dysplasia coarse facies mental retardation 
Spastic diplegia, infantile type 
Spinal muscular atrophy, type I, with congenital bone fractures 
Spondyloepiphyseal dysplasia congenita
Spondylohypoplasia arthrogryposis popliteal pterygium 
Spondylohypoplasia, arthrogryposis and popliteal pterygium 
Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features 
StrattonParker syndrome 
TeebiShaltout syndrome 
TelHashomer camptodactyly syndrome 
Thiele syndrome 
Thin ribs  tubular bones  dysmorphism 
Thiolase deficiency 
Trigonocephaly  bifid nose  acral anomalies 
Trigonocephaly  ptosis  coloboma 
Trisomy 10 mosaicism 
Trisomy 14 Mosaic 
Trisomy 14 Mosaicism Syndrome 
Trisomy 21 mosaicism 
Turner's syndrome
Turnermongolism polysyndrome 
Unusual facies, osteosarcoma and malformation syndrome 
Van der Woude syndrome 
Van der Woude syndrome 2 
Velofacioskeletal syndrome 
Von voss Cherstvoy syndrome 
Waaler Aarskog syndrome 
Weaver Syndrome 
WiedemannTolksdorf syndrome
Zellwegerlike syndrome, without peroxisomal anomalies

Latest revision as of 20:07, 29 July 2012

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Causes

  • Fetal aminopterinlike syndrome
  • Chromosome 9p deletion syndrome
  • Emanuel syndrome
  • Turner syndrome
  • Noonan syndrome
  • Branchiooculofacial syndrome
  • Cardiofaciocutaneous syndrome
  • Contractural arachnodactyly
  • FreemanSheldon syndrome
  • Kabuki makeup syndrome
  • Marfan syndrome
  • Metaphyseal chondrodysplasia, Jansen type
  • Muenke syndrome
  • RubinsteinTaybi syndrome
  • SaethreChotzen syndrome
  • Spondyloepiphyseal dysplasia congenita
  • AlAwadi syndrome
  • Crisponi syndrome
  • Cystathionine betasynthase deficiency
  • Fetal akinesiahypokinesia sequence
  • Friedreich ataxia
  • Orofaciodigital syndrome type 4
  • Pseudoxanthoma elasticum
  • Zellweger spectrum
  • Lowe syndrome
  • LujanFryns syndrome

46,XY chromosome 7 deletion p13p21

A Acrocephalopolysyndactyly, type 2 (ACPS 2) Acrocephalosyndactyly Syndrome type 5 Acrocephalosyndactyly type 5 (ACPS 5) Adducted thumb syndrome recessive form Adducted thumbs arthrogryposis, Christian type Adrenoleukodystrophy, autosomal, neonatal form Al Awadi syndrome Al AwadiRaasRothschild syndrome Amastia, bilateral, with ureteral triplication and dysmorphism Anophthalmia hand and foot defects mental retardation Armendares syndrome Arthrogryposis multiplex congenita pulmonary hypoplasia Arthrogryposis multiplex congenita type 2B Arthrogryposis, distal, type 2E

B Bd syndrome BenAriShuperMimouni syndrome BindewaldUlmerMuller syndrome Blepharophimosis telecanthus microstomia Blepharoptosis aortic anomaly BlethenWenickHawkins syndrome Body skin hyperlaxity due to vitamin Kdependent coagulation factor deficiency BrachmannDe Lange Syndrome Branchial arch syndrome Xlinked Branchioskeletogenital syndrome

C Cerebrooculonasal syndrome Cerebrorenodigital syndrome ChitayatMooreDel Bigio syndrome Chromosome 14, trisomy mosaic Chromosome 14q, terminal deletion Chromosome 19q13.11 Deletion syndrome Chromosome 2, monosomy 2pter p24 Chromosome 22q13 deletion Chromosome 22q13.3 deletion syndrome Chromosome 3, trisomy 3q Chromosome 5, Trisomy 5p Chromosome 5p duplication syndrome Chromosome 6, partial trisomy 6q Chromosome 7, Partial Deletion of Short Arm Chromosome 7, partial monosomy 7p Chromosome 9, Trisomy 9p (Multiple Variants) Clavicle, pseudoarthrosis of, congenital Coldinduced sweating syndrome 2 CollinsDennisClarkePope Syndrome Congenital fiber type disproportion Congenital heart disease radio ulnar synostosis mental retardation Cornelia de Lange syndrome 1 Corpus callosum agenesis double urinary collecting Corpus callosum agenesis double urinary collecting system and trigonocephaly Craniolenticulosutural dysplasia Craniosynostosis intracranial calcifications Crumpled helices and small mouth Cutis Laxa with Bone Dystrophy Cutis Laxa with Growth and Developmental Delay Cutis Laxa with or without Congenital Disorder of Glycosylation Cutis Laxa, Autosomal Recessive, Type IIA Cutis Laxa, Debre Type Cutis laxa, recessive type 2 Cyclophosphamide Teratogenic Agent

D Del (2) (q37.1qter) Delayed speech facial asymmetry strabismus ear lobe creases Deletion 22q13 Deletion 5p Dennis cohen syndrome DiGeorge syndrome Distal arthrogryposis, MooreWeaver type Distal trisomy 6q Double Upper and Lower Lip Hypertelorism Ptosis Blepharophimosis clinodactyly Dup (1) (q42qter) & del (18p) Duplication 5p Duplication 6q, partial Dursun Syndrome Dysharmonic skeletal maturation muscular fiber disproportion

E EhlersDanlos syndrome with periventricular heterotopia Emanuel syndrome EmeryNelson syndrome

F Faciodigitogenital syndrome, recessive form FaraChlupackova syndrome Fetal ricin syndrome FragileX Syndrome FranceschettiKlein syndrome FranceschiniVardeuGuala syndrome Fraser Syndrome Fried syndrome

G German syndrome

H Harper dwarfism Harrod Doman Keele syndrome Holoprosencephaly deletion 2p Homocystinuria Homocystinuria due to cystathionine betasynthase deficiency Homocystinuria due to defect in methylation cbl e HunterCarpenterMacdonald syndrome Hypoglossia with Situs Inversus Hypogonadism mitral valve prolapse mental retardation Hypotonic sclerotic muscular dystrophy

I Impossible syndrome Infantile sialic acid storage disorder Intellectual deficit multiple anomalies Intracranial aneurysms multiple congenital anomaly

K KasznicaCarlsonCoppedge syndrome Keutel syndrome 2 Koussef nichols syndrome KousseffNichols syndrome KurczynskiCasperson syndrome

L Lateral meningocele syndrome Lathosterolosis Lumbar malsegmentation short stature Lumbar malsegmentation, short stature and facial anomalies

M MadokoroOhdoSonoda syndrome MardenWalker Syndrome Mastocytosis short stature hearing loss Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia McDonough syndrome Mehes syndrome MelhemFahl syndrome Mental retardation arachnodactyly hypotonia telangiectasia Mental retardation hypotonic facies syndrome, Xlinked, 1 Mental retardation myopathy short stature endocrine defect Mental retardation short stature heart and skeletal anomalies Mental retardation athetosis microphthalmia Mental retardation unusual facies ampola type Mental retardation, Buenos Aires type Mental retardation, Xlinked syndromic 14 Mental retardation, Xlinked, 2 Mental retardation, Xlinked, 91 Mental retardation, Xlinked, Vitale type Mesomelia radial hypoplasia bifid thumb unusual facies Metaphyseal chondrodysplasia, recessive type Methimazole Teratogenic Agent Mickleson syndrome Microcephaly deafness syndrome Microcephaly glomerulonephritis Marfanoid habitus Microcephaly, hiatal hernia and nephrotic syndrome Microphthalmia syndromic, type 6 Minicore myopathy with external ophthalmoplegia Minicore myopathy, antenatal onset, with arthrogryposis Montefiore syndrome Mullerian derivatives lymphangiectasia polydactyly Multicore disease Multiple joint dislocations metaphyseal dysplasia Muscular dystrophy white matter spongiosis Muscular dystrophy, congenital, merosinpositive Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myopathy congenital multicore with external ophthalmoplegia Myopathy with lactic acidosis and sideroblastic anemia Myopathy, congenital fibertype disproportion Myopathy, Congenital, ComptonNorth

N Nemaline myopathy 4 Nephrosis neuronal dysmigration Syndrome Nguyen syndrome Night blindness skeletal anomalies unusual facies

O Oculocerebral hypopigmentation syndrome, type Preus OpitzReynoldsFitzgerald syndrome Oral facial digital syndrome, type 4 Orofaciodigital syndrome type I Orofaciodigital syndrome type1 Orofaciodigital syndrome, Shashi type Osteosclerosis, abnormalities of nervous system and meninges

P Partial 7p Monosomy Partial deletion of Y PattersonStevenson syndrome Pena Shokeir syndrome, type 1 Peroxisomal bifunctional enzyme deficiency Phocomelia thrombocytopenia encephalocele urogenital malformation Pilo dento ungular dysplasia microcephaly PittHopkins syndrome Polydactyly cleft lip palate psychomotor retardation Pseudoxanthoma elasticum, dominant form Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum, recessive form Ptosis strabismus ectopic pupils

Q Quattrin mcpherson syndrome

R Radio digito facial dysplasia Radio renal syndrome Radioulnar synostosis mental retardation hypotonia Rapadilino syndrome Renal dysplasia limb defects syndrome Retention of tears ectrodactyly ectodermal dysplasia strange hair, skin and teeth Rhizomelic syndrome RichieriCosta Pereira syndrome RichieriCostaSilveiraPereira syndrome RommenMuellerSybert syndrome RubinsteinTaybi like syndrome

S SaethreChotzen syndrome, chromosome 7 p15.3p21.3 SayBarberMiller syndrome Short stature valvular heart disease Short stature valvular heart disease characteristic facies SimpsonGolabiBehmel syndrome, type 2 Skeletal dysplasia mental retardation Sketetal dysplasia coarse facies mental retardation Spastic diplegia, infantile type Spinal muscular atrophy, type I, with congenital bone fractures Spondylohypoplasia arthrogryposis popliteal pterygium Spondylohypoplasia, arthrogryposis and popliteal pterygium Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features StrattonParker syndrome

T TeebiShaltout syndrome TelHashomer camptodactyly syndrome Thiele syndrome Thin ribs tubular bones dysmorphism Thiolase deficiency Trigonocephaly bifid nose acral anomalies Trigonocephaly ptosis coloboma Trisomy 10 mosaicism Trisomy 14 Mosaic Trisomy 14 Mosaicism Syndrome Trisomy 21 mosaicism Turnermongolism polysyndrome

U Unusual facies, osteosarcoma and malformation syndrome

V Van der Woude syndrome Van der Woude syndrome 2 Velofacioskeletal syndrome Von voss Cherstvoy syndrome

W Waaler Aarskog syndrome Weaver Syndrome WiedemannTolksdorf syndrome

Z Zellwegerlike syndrome, without peroxisomal anomalies

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Introduction

Symptom combinations for

List of 242 causes of

This section shows a full list of all the diseases and conditions listed as a possible cause of in our database from various sources.

46,XY chromosome 7 deletion p13p21 Acrocephalopolysyndactyly, type 2 (ACPS 2) Acrocephalosyndactyly Syndrome type 5 Acrocephalosyndactyly type 5 (ACPS 5) Adducted thumb syndrome recessive form Adducted thumbs arthrogryposis, Christian type Adrenoleukodystrophy, autosomal, neonatal form Al Awadi syndrome Al AwadiRaasRothschild syndrome Amastia, bilateral, with ureteral triplication and dysmorphism Anophthalmia hand and foot defects mental retardation Armendares syndrome Arthrogryposis multiplex congenita pulmonary hypoplasia Arthrogryposis multiplex congenita type 2B Arthrogryposis, distal, type 2E Bd syndrome BenAriShuperMimouni syndrome BindewaldUlmerMuller syndrome Blepharophimosis telecanthus microstomia Blepharoptosis aortic anomaly BlethenWenickHawkins syndrome Body skin hyperlaxity due to vitamin Kdependent coagulation factor deficiency BrachmannDe Lange Syndrome Branchial arch syndrome Xlinked Branchioskeletogenital syndrome Cardiofaciocutaneous syndrome Cerebrooculonasal syndrome Cerebrohepatorenal syndrome Cerebrorenodigital syndrome ChitayatMooreDel Bigio syndrome Chromosome 14, trisomy mosaic Chromosome 14q, terminal deletion Chromosome 19q13.11 Deletion syndrome Chromosome 2, monosomy 2pter p24 Chromosome 22q13 deletion Chromosome 22q13.3 deletion syndrome Chromosome 3, trisomy 3q Chromosome 5, Trisomy 5p Chromosome 5p duplication syndrome Chromosome 6, partial trisomy 6q Chromosome 7, Partial Deletion of Short Arm Chromosome 7, partial monosomy 7p Chromosome 9, Trisomy 9p (Multiple Variants) Clavicle, pseudoarthrosis of, congenital Coldinduced sweating syndrome 2 CollinsDennisClarkePope Syndrome Congenital fiber type disproportion Congenital heart disease radio ulnar synostosis mental retardation Cornelia de Lange syndrome 1 Corpus callosum agenesis double urinary collecting Corpus callosum agenesis double urinary collecting system and trigonocephaly Craniolenticulosutural dysplasia Craniosynostosis intracranial calcifications Crumpled helices and small mouth Cutis Laxa with Bone Dystrophy Cutis Laxa with Growth and Developmental Delay Cutis Laxa with or without Congenital Disorder of Glycosylation Cutis Laxa, Autosomal Recessive, Type IIA Cutis Laxa, Debre Type Cutis laxa, recessive type 2 Cyclophosphamide Teratogenic Agent Cystathionine betasynthase deficiency Del (2) (q37.1qter) Delayed speech facial asymmetry strabismus ear lobe creases Deletion 22q13 Deletion 5p Dennis cohen syndrome DiGeorge syndrome Distal arthrogryposis, MooreWeaver type Distal trisomy 6q Double Upper and Lower Lip Hypertelorism Ptosis Blepharophimosis clinodactyly Dup (1) (q42qter) & del (18p) Duplication 5p Duplication 6q, partial Dursun Syndrome Dysharmonic skeletal maturation muscular fiber disproportion EhlersDanlos syndrome with periventricular heterotopia Emanuel syndrome EmeryNelson syndrome Faciodigitogenital syndrome, recessive form FaraChlupackova syndrome Fetal akinesiahypokinesia sequence Fetal aminopterinlike syndrome Fetal ricin syndrome FragileX Syndrome FranceschettiKlein syndrome FranceschiniVardeuGuala syndrome Fraser Syndrome Fried syndrome Friedreich's ataxia Friedrich's ataxia German syndrome Harper dwarfism Harrod Doman Keele syndrome Holoprosencephaly deletion 2p Homocystinuria Homocystinuria due to cystathionine betasynthase deficiency Homocystinuria due to defect in methylation cbl e HunterCarpenterMacdonald syndrome Hypoglossia with Situs Inversus Hypogonadism mitral valve prolapse mental retardation Hypotonic sclerotic muscular dystrophy Impossible syndrome Infantile sialic acid storage disorder Intellectual deficit multiple anomalies Intracranial aneurysms multiple congenital anomaly Kabuki makeup syndrome KasznicaCarlsonCoppedge syndrome Keutel syndrome 2 Koussef nichols syndrome KousseffNichols syndrome KurczynskiCasperson syndrome Lateral meningocele syndrome Lathosterolosis Lowe syndrome LujanFryns syndrome Lumbar malsegmentation short stature Lumbar malsegmentation, short stature and facial anomalies MadokoroOhdoSonoda syndrome MardenWalker Syndrome Marfan's syndrome Mastocytosis short stature hearing loss Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia McDonough syndrome Mehes syndrome MelhemFahl syndrome Mental retardation arachnodactyly hypotonia telangiectasia Mental retardation hypotonic facies syndrome, Xlinked, 1 Mental retardation myopathy short stature endocrine defect Mental retardation short stature heart and skeletal anomalies Mental retardation athetosis microphthalmia Mental retardation unusual facies ampola type Mental retardation, Buenos Aires type Mental retardation, Xlinked syndromic 14 Mental retardation, Xlinked, 2 Mental retardation, Xlinked, 91 Mental retardation, Xlinked, Vitale type Mesomelia radial hypoplasia bifid thumb unusual facies Metaphyseal chondrodysplasia, Jansen type Metaphyseal chondrodysplasia, recessive type Methimazole Teratogenic Agent Mickleson syndrome Microcephaly deafness syndrome Microcephaly glomerulonephritis Marfanoid habitus Microcephaly, hiatal hernia and nephrotic syndrome Microphthalmia syndromic, type 6 Minicore myopathy with external ophthalmoplegia Minicore myopathy, antenatal onset, with arthrogryposis Montefiore syndrome Muenke syndrome Mullerian derivatives lymphangiectasia polydactyly Multicore disease Multiple joint dislocations metaphyseal dysplasia Muscular dystrophy white matter spongiosis Muscular dystrophy, congenital, merosinpositive Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Myopathy congenital multicore with external ophthalmoplegia Myopathy with lactic acidosis and sideroblastic anemia Myopathy, congenital fibertype disproportion Myopathy, Congenital, ComptonNorth Nemaline myopathy 4 Nephrosis neuronal dysmigration Syndrome Nguyen syndrome Night blindness skeletal anomalies unusual facies Noonan syndrome Noonan's syndrome Normal variant Oculocerebral hypopigmentation syndrome, type Preus OpitzReynoldsFitzgerald syndrome Oral facial digital syndrome, type 4 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type I Orofaciodigital syndrome type1 Orofaciodigital syndrome, Shashi type Osteosclerosis, abnormalities of nervous system and meninges Partial 7p Monosomy Partial deletion of Y PattersonStevenson syndrome Pena Shokeir syndrome, type 1 Peroxisomal bifunctional enzyme deficiency Pfieffer syndrome Phocomelia thrombocytopenia encephalocele urogenital malformation Pierre Robin syndrome Pilo dento ungular dysplasia microcephaly PittHopkins syndrome Polydactyly cleft lip palate psychomotor retardation Pseudoxanthoma elasticum Pseudoxanthoma elasticum dominant type 2 Pseudoxanthoma elasticum, dominant form Pseudoxanthoma elasticum, forme fruste Pseudoxanthoma elasticum, recessive form Ptosis strabismus ectopic pupils Quattrin mcpherson syndrome Radio digito facial dysplasia Radio renal syndrome Radioulnar synostosis mental retardation hypotonia Rapadilino syndrome Renal dysplasia limb defects syndrome Retention of tears ectrodactyly ectodermal dysplasia strange hair, skin and teeth Rhizomelic syndrome RichieriCosta Pereira syndrome RichieriCostaSilveiraPereira syndrome RommenMuellerSybert syndrome RubinsteinTaybi like syndrome RubinsteinTaybi syndrome SaethreChotzen syndrome SaethreChotzen syndrome, chromosome 7 p15.3p21.3 SayBarberMiller syndrome Short stature valvular heart disease Short stature valvular heart disease characteristic facies SimpsonGolabiBehmel syndrome, type 2 Skeletal dysplasia mental retardation Sketetal dysplasia coarse facies mental retardation Spastic diplegia, infantile type Spinal muscular atrophy, type I, with congenital bone fractures Spondyloepiphyseal dysplasia congenita Spondylohypoplasia arthrogryposis popliteal pterygium Spondylohypoplasia, arthrogryposis and popliteal pterygium Stargardt Macular Degeneration, Absent or Hypoplastic Corpus Callosum, Mental Retardation and Dysmorphic Features StrattonParker syndrome TeebiShaltout syndrome TelHashomer camptodactyly syndrome Thiele syndrome Thin ribs tubular bones dysmorphism Thiolase deficiency Trigonocephaly bifid nose acral anomalies Trigonocephaly ptosis coloboma Trisomy 10 mosaicism Trisomy 14 Mosaic Trisomy 14 Mosaicism Syndrome Trisomy 21 mosaicism Turner's syndrome Turnermongolism polysyndrome Unusual facies, osteosarcoma and malformation syndrome Van der Woude syndrome Van der Woude syndrome 2 Velofacioskeletal syndrome Von voss Cherstvoy syndrome Waaler Aarskog syndrome Weaver Syndrome WiedemannTolksdorf syndrome Zellwegerlike syndrome, without peroxisomal anomalies