High palate

Symptom Information:

Symptom ID: HPO:0000218
Synonyms:
High arched palate [HPO:0000218]
High narrow palate [HPO:0000218]
High, arched palate [HPO:0000218]
High-arched palate [HPO:0000218]
Narrow and high arched palate [HPO:0000218]
Narrow, high-arched palate [HPO:0000218]
Narrow, highly arched palate [HPO:0000218]
Palate high-arched [HPO:0000218]
Byzanthine arch palate (disorder) [Orphanet:11150]
Byzanthine arch palate [Orphanet:11150]
High arched palate [OMIM:High arched palate]
High narrow palate [OMIM:High narrow palate]
High palate [OMIM:High palate]
High, arched palate [OMIM:High, arched palate]
High-arched palate [OMIM:High-arched palate]
Narrow and high arched palate [OMIM:Narrow and high arched palate]
Narrow, high-arched palate [OMIM:Narrow, high-arched palate]
Palate high-arched [OMIM:Palate high-arched]
High vaulted/narrow palate [Orphanet:11150]
High arched palate [Orphanet:11150]
High arched palate [MedDRA:10020046]
High arched palate (in some patients) [OMIM:High arched palate (in some patients)]
High palate (in some patients) [OMIM:High palate (in some patients)]
High, narrow palate (50%) [OMIM:High, narrow palate (50%)]
High-arched palate (1 family) [OMIM:High-arched palate (1 family)]
High-arched palate (1 patient) [OMIM:High-arched palate (1 patient)]
High-arched palate (12% of patients) [OMIM:High-arched palate (12% of patients)]
High-arched palate (15%) [OMIM:High-arched palate (15%)]
High-arched palate (17%) [OMIM:High-arched palate (17%)]
High-arched palate (28%) [OMIM:High-arched palate (28%)]
High-arched palate (3 patients) [OMIM:High-arched palate (3 patients)]
High-arched palate (52%) [OMIM:High-arched palate (52%)]
High-arched palate (61%) [OMIM:High-arched palate (61%)]
High-arched palate (in some patients) [OMIM:High-arched palate (in some patients)]
High-arched palate (rare) [OMIM:High-arched palate (rare)]
Quality:
Cross references:
HPO:0000156 "High-arched palate" [Orphanet:11150]
HPO:0002705 "High, narrow palate" [Orphanet:11150]
Orphanet:11150 "High vaulted/narrow palate" [Orphanet:11150]
OMIM: "High arched palate" [OMIM:High arched palate]
OMIM: "High narrow palate" [OMIM:High narrow palate]
OMIM: "High palate" [OMIM:High palate]
OMIM: "High, arched palate" [OMIM:High, arched palate]
OMIM: "High-arched palate" [OMIM:High-arched palate]
OMIM: "Narrow and high arched palate" [OMIM:Narrow and high arched palate]
OMIM: "Narrow, high-arched palate" [OMIM:Narrow, high-arched palate]
OMIM: "Palate high-arched" [OMIM:Palate high-arched]
OMIM: "High arched palate (in some patients)" [OMIM:High arched palate (in some patients)]
OMIM: "High palate (in some patients)" [OMIM:High palate (in some patients)]
OMIM: "High, narrow palate (50%)" [OMIM:High, narrow palate (50%)]
OMIM: "High-arched palate (1 family)" [OMIM:High-arched palate (1 family)]
OMIM: "High-arched palate (1 patient)" [OMIM:High-arched palate (1 patient)]
OMIM: "High-arched palate (12% of patients)" [OMIM:High-arched palate (12% of patients)]
OMIM: "High-arched palate (15%)" [OMIM:High-arched palate (15%)]
OMIM: "High-arched palate (17%)" [OMIM:High-arched palate (17%)]
OMIM: "High-arched palate (28%)" [OMIM:High-arched palate (28%)]
OMIM: "High-arched palate (3 patients)" [OMIM:High-arched palate (3 patients)]
OMIM: "High-arched palate (52%)" [OMIM:High-arched palate (52%)]
OMIM: "High-arched palate (61%)" [OMIM:High-arched palate (61%)]
OMIM: "High-arched palate (in some patients)" [OMIM:High-arched palate (in some patients)]
OMIM: "High-arched palate (rare)" [OMIM:High-arched palate (rare)]
UMLS:C0240635 "Byzanthine arch palate" [Orphanet:11150]
Is a (Direct Parents):
Orphanet Narrow palate
Orphanet Abnormality of the palate
MedDRA Palate disorders congenital
HPO         Abnormality of the palate
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the mouth(HPO:0000153)
                   Abnormality of the oral cavity(HPO:0000163)
                      Abnormality of the palate(HPO:0000174)
                         High palate(HPO:0000218)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Gastrointestinal tract disorders congenital(MedDRA:10018018)
       Palate disorders congenital(MedDRA:10033530)
          High palate(HPO:0000218)
Database Frequency: 356 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17p11.2 microduplication syndrome (Orphanet:1713)
17q12 microdeletion syndrome (Orphanet:261265)
1p36 deletion syndrome (Orphanet:1606)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q32q33 microdeletion syndrome (Orphanet:251019)
3q13 microdeletion syndrome (Orphanet:1621)
5p13 microduplication syndrome (Orphanet:329802)
8q22.1 microdeletion syndrome (Orphanet:178303)
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT (OMIM:613506)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
ALG3-CDG (Orphanet:79321)
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM (OMIM:104350)
AORTIC ANEURYSM, FAMILIAL THORACIC 9 (OMIM:616166)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocallosal syndrome (Orphanet:36)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aneurysm - osteoarthritis syndrome (Orphanet:284984)
Antenatal multiminicore disease with arthrogryposis multiplex congenita (Orphanet:178148)
Arterial tortuosity syndrome (Orphanet:3342)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant hyper-IgE syndrome (Orphanet:2314)
Autosomal recessive centronuclear myopathy (Orphanet:169186)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
Autosomal recessive spastic paraplegia type 18 (Orphanet:209951)
Autosomal recessive spastic paraplegia type 54 (Orphanet:320380)
BILIARY MALFORMATION WITH RENAL TUBULAR INSUFFICIENCY (OMIM:210550)
BOR syndrome (Orphanet:107)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Baller-Gerold syndrome (Orphanet:1225)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Barber-Say syndrome (Orphanet:1231)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 17 (OMIM:615994)
Bifunctional enzyme deficiency (Orphanet:300)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
C syndrome (Orphanet:1308)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARDIOFACIOCUTANEOUS SYNDROME 2 (OMIM:615278)
CARPENTER SYNDROME 1 (OMIM:201000)
CARPENTER SYNDROME 2 (OMIM:614976)
CATEL-MANZKE SYNDROME (OMIM:616145)
CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CHST3-related skeletal dysplasia (Orphanet:263463)
CK syndrome (Orphanet:251383)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
COFFIN-SIRIS SYNDROME (OMIM:135900)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 3 (OMIM:610759)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
COWDEN SYNDROME 5 (OMIM:615108)
COWDEN SYNDROME 6 (OMIM:615109)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Camptodactyly - tall stature - scoliosis - hearing loss (Orphanet:85164)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cap myopathy (Orphanet:171881)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carnitine palmitoyl transferase II deficiency, neonatal form (Orphanet:228308)
Carpenter syndrome (Orphanet:65759)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Catel-Manzke syndrome (Orphanet:1388)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-facio-articular syndrome (Orphanet:314679)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Classic multiminicore myopathy (Orphanet:324604)
Classical homocystinuria (Orphanet:394)
Cleidocranial dysplasia (Orphanet:1452)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Cold-induced sweating syndrome (Orphanet:157820)
Congenital contractural arachnodactyly (Orphanet:115)
Congenital fiber-type disproportion myopathy (Orphanet:2020)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Congenital lethal myopathy, Compton-North type (Orphanet:210163)
Congenital multicore myopathy with external ophthalmoplegia (Orphanet:98905)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Congenital muscular dystrophy, Ullrich type (Orphanet:75840)
Congenital myopathy with excess of thin filaments (Orphanet:98904)
Congenital pseudoarthrosis of clavicle (Orphanet:66630)
Cooks syndrome (Orphanet:1487)
Cornelia de Lange syndrome (Orphanet:199)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Costello syndrome (Orphanet:3071)
Cowden syndrome (Orphanet:201)
Coxo-podo-patellar syndrome (Orphanet:1509)
Cranio-osteoarthropathy (Orphanet:1525)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniometadiaphyseal dysplasia, wormian bone type (Orphanet:85184)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIGEORGE SYNDROME (OMIM:188400)
Desmin-related myopathy with Mallory body-like inclusions (Orphanet:84132)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Dopamine beta-hydroxylase deficiency (Orphanet:230)
Dubowitz syndrome (Orphanet:235)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dysosteosclerosis (Orphanet:1782)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (OMIM:615539)
ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNELDEFICIENCY (OMIM:614520)
Ear-patella-short stature syndrome (Orphanet:2554)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Emanuel syndrome (Orphanet:96170)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
FEINGOLD SYNDROME 1 (OMIM:164280)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FRONTOOCULAR SYNDROME (OMIM:605321)
Familial mitral valve prolapse (Orphanet:741)
Feingold syndrome (Orphanet:1305)
Fetal akinesia deformation sequence (Orphanet:994)
Frank-Ter Haar syndrome (Orphanet:137834)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontometaphyseal dysplasia (Orphanet:1826)
Fumaric aciduria (Orphanet:24)
GCS1-CDG (Orphanet:79330)
Galloway-Mowat syndrome (Orphanet:2065)
Gingival fibromatosis - facial dysmorphism (Orphanet:2025)
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea (Orphanet:238763)
Gordon syndrome (Orphanet:376)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Gómez-López-Hernández syndrome (Orphanet:1532)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Hallermann-Streiff syndrome (Orphanet:2108)
Harrod syndrome (Orphanet:2115)
Hennekam-Beemer syndrome (Orphanet:2135)
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia (Orphanet:79091)
Hereditary sensory and autonomic neuropathy type 6 (Orphanet:314381)
Holmes-Gang syndrome (Orphanet:93970)
Hyaline body myopathy (Orphanet:53698)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypotonia-cerebral atrophy-hyperglycinemia syndrome (Orphanet:363424)
IMMUNODEFICIENCY 23 (OMIM:615816)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
Ichthyosis-cheek-eyebrow syndrome (Orphanet:2267)
Intellectual deficit, Birk-Barel type (Orphanet:166108)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - psychosis - macroorchidism (Orphanet:3077)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Isolated congenital hypoglossia/aglossia (Orphanet:141152)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Juberg-Marsidi syndrome (Orphanet:93972)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KALLMANN SYNDROME WITH SPASTIC PARAPLEGIA (OMIM:308750)
KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS (OMIM:245160)
Kabuki syndrome (Orphanet:2322)
Keipert syndrome (Orphanet:2662)
Koolen-De Vries syndrome (Orphanet:96169)
LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Laing distal myopathy (Orphanet:59135)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Legius syndrome (Orphanet:137605)
Leprechaunism (Orphanet:508)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lhermitte-Duclos disease (Orphanet:65285)
Léri-Weill dyschondrosteosis (Orphanet:240)
MACS syndrome (Orphanet:217335)
MARFANOID HYPERMOBILITY SYNDROME (OMIM:154750)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 (OMIM:616158)
MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
MENTAL RETARDATION, X-LINKED 91 (OMIM:300577)
MENTAL RETARDATION, X-LINKED, SYNDROMIC 14 (OMIM:300676)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MOMO syndrome (Orphanet:2563)
MOVED TO 210600 (OMIM:608664)
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616326)
MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL (OMIM:601462)
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL (OMIM:608930)
MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL (OMIM:616313)
MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL (OMIM:616322)
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:616323)
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY (OMIM:608931)
MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (OMIM:255310)
Madelung deformity (Orphanet:35688)
Mandibuloacral dysplasia (Orphanet:2457)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome type 1 (Orphanet:284963)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Menkes disease (Orphanet:565)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Micrencephaly - corpus callosum agenesis - abnormal genitalia (Orphanet:2508)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - glomerulonephritis - marfanoid habitus (Orphanet:2172)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Moebius syndrome (Orphanet:570)
Monosomy 18p (Orphanet:1598)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Mowat-Wilson syndrome (Orphanet:2152)
Muenke syndrome (Orphanet:53271)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple endocrine neoplasia type 2B (Orphanet:247709)
Myopathy, lactic acidosis, and sideroblastic anemia 1; MLASA1 (OMIM:600462)
NEMALINE MYOPATHY 1 (OMIM:609284)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 4 (OMIM:609285)
NEMALINE MYOPATHY 7 (OMIM:610687)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
NOONAN SYNDROME 1 (OMIM:163950)
Native American myopathy (Orphanet:168572)
Nemaline myopathy (Orphanet:607)
Neonatal adrenoleukodystrophy (Orphanet:44)
Noonan syndrome (Orphanet:648)
OCULOCEREBRAL HYPOPIGMENTATION SYNDROME OF PREUS (OMIM:257790)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
Occipital horn syndrome (Orphanet:198)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculopharyngodistal myopathy (Orphanet:98897)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Orofaciodigital syndrome type 9 (Orphanet:141007)
Osteoglophonic dwarfism (Orphanet:2645)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED (OMIM:177850)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Pai syndrome (Orphanet:1993)
Paraplegia - brachydactyly - cone-shaped epiphysis (Orphanet:2823)
Paraplegia - intellectual deficit - hyperkeratosis (Orphanet:2824)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 5 (OMIM:616138)
Pfeiffer syndrome (Orphanet:710)
Phocomelia, Schinzel type (Orphanet:2879)
Polyvalvular heart disease syndrome (Orphanet:228410)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Proteus-like syndrome (Orphanet:2969)
Pseudoaminopterin syndrome (Orphanet:221120)
Pseudoxanthoma elasticum (Orphanet:758)
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (Orphanet:88618)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Qazi-Markouizos syndrome (Orphanet:3010)
RAPADILINO syndrome (Orphanet:3021)
RIENHOFF SYNDROME (OMIM:615582)
ROBERTS SYNDROME (OMIM:268300)
Rabson-Mendenhall syndrome (Orphanet:769)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Rhizomelic chondrodysplasia punctata type 2 (Orphanet:309796)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Rigid spine syndrome (Orphanet:97244)
Roberts syndrome (Orphanet:3103)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (Orphanet:353284)
SECKEL SYNDROME 1 (OMIM:210600)
SENER SYNDROME (OMIM:606156)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SOTOS SYNDROME 1 (OMIM:117550)
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Seckel syndrome (Orphanet:808)
Severe intellectual deficit and progressive spastic paraplegia (Orphanet:280763)
Sheldon-Hall syndrome (Orphanet:1147)
Short stature - valvular heart disease - characteristic facies (Orphanet:2868)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Sialuria (Orphanet:3166)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Sotos syndrome (Orphanet:821)
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification (Orphanet:93358)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TARP syndrome (Orphanet:2886)
TEMPLE SYNDROME (OMIM:616222)
THAI SYMPHALANGISM SYNDROME (OMIM:608028)
TMCO1 defect syndrome (Orphanet:228407)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Ulbright-Hodes syndrome (Orphanet:3404)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Van den Ende-Gupta syndrome (Orphanet:2460)
Velo-facial-skeletal syndrome (Orphanet:3424)
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME (OMIM:602418)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Warsaw breakage syndrome (Orphanet:280558)
Wiedemann-Steiner syndrome (Orphanet:319182)
Wolcott-Rallison syndrome (Orphanet:1667)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked centronuclear myopathy (Orphanet:596)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit with marfanoid habitus (Orphanet:776)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)
X-linked mandibulofacial dysostosis (Orphanet:1131)
Zellweger syndrome (Orphanet:912)
Zimmermann-Laband syndrome (Orphanet:3473)