High arched palate
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
More Information About
- 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