Downslanted palpebral fissures

Symptom Information:

Symptom ID: HPO:0000494
Synonyms:
Antimongoloid eye slant [HPO:0000494]
Antimongoloid slant of palpebral fissures [HPO:0000494]
Antimongoloid slanted palpebral fissures [HPO:0000494]
Down slanting palpebral fissures [HPO:0000494]
Down-slanted palpebral fissures [HPO:0000494]
Down-slanting palpebral fissure [HPO:0000494]
Down-slanting palpebral fissures [HPO:0000494]
Downslanting palpebral fissure [HPO:0000494]
Downslanting palpebral fissures [HPO:0000494]
Downward slanted palpebral fissures [HPO:0000494]
Downward-slanting palpebral fissures [HPO:0000494]
Palpebral fissures down-slanted [HPO:0000494]
Downslanted palpebral fissure [Orphanet:3380]
Antimongoloid eye slant [OMIM:Antimongoloid eye slant]
Antimongoloid slant of palpebral fissures [OMIM:Antimongoloid slant of palpebral fissures]
Antimongoloid slanted palpebral fissures [OMIM:Antimongoloid slanted palpebral fissures]
Down slanting palpebral fissures [OMIM:Down slanting palpebral fissures]
Down-slanted palpebral fissures [OMIM:Down-slanted palpebral fissures]
Down-slanting palpebral fissures [OMIM:Down-slanting palpebral fissures]
Downslanted palpebral fissures [OMIM:Downslanted palpebral fissures]
Downslanting palpebral fissure [OMIM:Downslanting palpebral fissure]
Downslanting palpebral fissures [OMIM:Downslanting palpebral fissures]
Downward slanted palpebral fissures [OMIM:Downward slanted palpebral fissures]
Downward-slanting palpebral fissures [OMIM:Downward-slanting palpebral fissures]
Palpebral fissures down-slanted [OMIM:Palpebral fissures down-slanted]
Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures [Orphanet:3380]
Downslanting palpebral fissure (male) [OMIM:Downslanting palpebral fissure (male)]
Downslanting palpebral fissures (6 of 22) [OMIM:Downslanting palpebral fissures (6 of 22)]
Downslanting palpebral fissures (in 1 of 2 patients) [OMIM:Downslanting palpebral fissures (in 1 of 2 patients)]
Downslanting palpebral fissures (in 2 patients) [OMIM:Downslanting palpebral fissures (in 2 patients)]
Downslanting palpebral fissures (in 2/4 patients) [OMIM:Downslanting palpebral fissures (in 2/4 patients)]
Downslanting palpebral fissures (in some patients) [OMIM:Downslanting palpebral fissures (in some patients)]
Downslanting palpebral fissures (rare) [OMIM:Downslanting palpebral fissures (rare)]
Downward slanting palpebral fissures [OMIM:Downward slanting palpebral fissures]
Quality:
Cross references:
HPO:0007714 "Small, downslanting palpebral fissures" [Orphanet:3380]
Orphanet:3380 "Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures" [Orphanet:3380]
OMIM: "Antimongoloid eye slant" [OMIM:Antimongoloid eye slant]
OMIM: "Antimongoloid slant of palpebral fissures" [OMIM:Antimongoloid slant of palpebral fissures]
OMIM: "Antimongoloid slanted palpebral fissures" [OMIM:Antimongoloid slanted palpebral fissures]
OMIM: "Down slanting palpebral fissures" [OMIM:Down slanting palpebral fissures]
OMIM: "Down-slanted palpebral fissures" [OMIM:Down-slanted palpebral fissures]
OMIM: "Down-slanting palpebral fissures" [OMIM:Down-slanting palpebral fissures]
OMIM: "Downslanted palpebral fissures" [OMIM:Downslanted palpebral fissures]
OMIM: "Downslanting palpebral fissure" [OMIM:Downslanting palpebral fissure]
OMIM: "Downslanting palpebral fissures" [OMIM:Downslanting palpebral fissures]
OMIM: "Downward slanted palpebral fissures" [OMIM:Downward slanted palpebral fissures]
OMIM: "Downward-slanting palpebral fissures" [OMIM:Downward-slanting palpebral fissures]
OMIM: "Palpebral fissures down-slanted" [OMIM:Palpebral fissures down-slanted]
OMIM: "Downslanting palpebral fissure (male)" [OMIM:Downslanting palpebral fissure (male)]
OMIM: "Downslanting palpebral fissures (6 of 22)" [OMIM:Downslanting palpebral fissures (6 of 22)]
OMIM: "Downslanting palpebral fissures (in 1 of 2 patients)" [OMIM:Downslanting palpebral fissures (in 1 of 2 patients)]
OMIM: "Downslanting palpebral fissures (in 2 patients)" [OMIM:Downslanting palpebral fissures (in 2 patients)]
OMIM: "Downslanting palpebral fissures (in 2/4 patients)" [OMIM:Downslanting palpebral fissures (in 2/4 patients)]
OMIM: "Downslanting palpebral fissures (in some patients)" [OMIM:Downslanting palpebral fissures (in some patients)]
OMIM: "Downslanting palpebral fissures (rare)" [OMIM:Downslanting palpebral fissures (rare)]
OMIM: "Downward slanting palpebral fissures" [OMIM:Downward slanting palpebral fissures]
Is a (Direct Parents):
Orphanet Abnormal facial shape
HPO         Slanting of the palpebral fissure
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)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of the eyelid(HPO:0000492)
                      Abnormality of the palpebral fissures(HPO:0008050)
                         Slanting of the palpebral fissure(HPO:0200006)
                            Downslanted palpebral fissures(HPO:0000494)
                Abnormality of the periorbital region(HPO:0000606)
                   Abnormality of the eyelid(HPO:0000492)
                      Abnormality of the palpebral fissures(HPO:0008050)
                         Slanting of the palpebral fissure(HPO:0200006)
                            Downslanted palpebral fissures(HPO:0000494)
MedDRA:
Database Frequency: 328 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
14q12 microdeletion syndrome (Orphanet:261144)
15q11q13 microduplication syndrome (Orphanet:238446)
15q13.3 microdeletion syndrome (Orphanet:199318)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
16p13.11 microdeletion syndrome (Orphanet:261236)
17p11.2 microduplication syndrome (Orphanet:1713)
17p13.3 microduplication syndrome (Orphanet:217385)
17q12 microdeletion syndrome (Orphanet:261265)
17q12 microduplication syndrome (Orphanet:261272)
1p36 deletion syndrome (Orphanet:1606)
20p12.3 microdeletion syndrome (Orphanet:261295)
22q11.2 deletion syndrome (Orphanet:567)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
3C syndrome (Orphanet:7)
3MC SYNDROME 2 (OMIM:265050)
3q29 microdeletion syndrome (Orphanet:65286)
3q29 microduplication (Orphanet:251038)
6q25 microdeletion syndrome (Orphanet:251056)
8q21.11 microdeletion syndrome (Orphanet:284160)
AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM (OMIM:104350)
Aarskog-Scott syndrome (Orphanet:915)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acrocallosal syndrome (Orphanet:36)
Acrocraniofacial dysostosis (Orphanet:949)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acroosteolysis, dominant type (Orphanet:955)
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia (Orphanet:52055)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Alagille syndrome (Orphanet:52)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis (Orphanet:86818)
Antley-Bixler syndrome (Orphanet:83)
Aortic arch anomaly - peculiar facies - intellectual deficit (Orphanet:1110)
Apert syndrome (Orphanet:87)
Arterial tortuosity syndrome (Orphanet:3342)
Atkin-Flaitz syndrome (Orphanet:1193)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive cutis laxa type 2 (Orphanet:90350)
Autosomal recessive cutis laxa type 2, classic type (Orphanet:357074)
Autosomal recessive cutis laxa type 2A (Orphanet:357058)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
Baller-Gerold syndrome (Orphanet:1225)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 17 (OMIM:615994)
Blackfan-Diamond anemia (Orphanet:124)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CEDNIK syndrome (Orphanet:66631)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CLARK-BARAITSER SYNDROME (OMIM:300602)
COLE-CARPENTER SYNDROME 2 (OMIM:616294)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CRANIOMETADIAPHYSEAL DYSPLASIA (OMIM:269300)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CREE MENTAL RETARDATION SYNDROME (OMIM:606851)
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB (OMIM:614437)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Cat-eye syndrome (Orphanet:195)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cenani-Lenz syndrome (Orphanet:3258)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Char syndrome (Orphanet:46627)
Coffin-Lowry syndrome (Orphanet:192)
Cohen syndrome (Orphanet:193)
Cole-Carpenter syndrome (Orphanet:2050)
Congenital short bowel syndrome (Orphanet:2301)
Cooks syndrome (Orphanet:1487)
Costello syndrome (Orphanet:3071)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofacial-deafness-hand syndrome (Orphanet:1529)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniometadiaphyseal dysplasia, wormian bone type (Orphanet:85184)
Craniosynostosis - dysmorphism - brachydactyly (Orphanet:1535)
Cutis gyrata - acanthosis nigricans - craniosynostosis (Orphanet:1555)
Cutis laxa (Orphanet:209)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:300946)
DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
DPM1-CDG (Orphanet:79322)
De Barsy syndrome (Orphanet:2962)
Deafness with labyrinthine aplasia, microtia, and microdontia (Orphanet:90024)
Delayed membranous cranial ossification (Orphanet:3034)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Desmosterolosis (Orphanet:35107)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10p (Orphanet:1580)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 6p (Orphanet:96125)
Distal trisomy 15q (Orphanet:1707)
Donnai-Barrow syndrome (Orphanet:2143)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (OMIM:615539)
Early infantile epileptic encephalopathy without suppression burst (Orphanet:369894)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Ehlers-Danlos syndrome, spondylocheirodysplastic type (Orphanet:157965)
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria (Orphanet:1035)
FACIAL ABNORMALITIES, KYPHOSCOLIOSIS, AND MENTAL RETARDATION (OMIM:227250)
FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS (OMIM:227255)
FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES,AND SPONTANEOUS FILTERING BLEBS (OMIM:601552)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Facial ectodermal dysplasia (Orphanet:1807)
Fallot complex - intellectual deficit - growth delay (Orphanet:3304)
Fibrochondrogenesis (Orphanet:2021)
Fibulo-ulnar hypoplasia - renal anomalies (Orphanet:2256)
Fine-Lubinsky syndrome (Orphanet:1272)
Frank-Ter Haar syndrome (Orphanet:137834)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontometaphyseal dysplasia (Orphanet:1826)
GMS syndrome (Orphanet:2090)
Gamma-aminobutyric acid transaminase deficiency (Orphanet:2066)
Genito-palato-cardiac syndrome (Orphanet:2075)
Genitopatellar syndrome (Orphanet:85201)
German syndrome (Orphanet:2077)
Gingival fibromatosis - facial dysmorphism (Orphanet:2025)
Gingival fibromatosis-hypertrichosis syndrome (Orphanet:2026)
Goldberg-Shprintzen megacolon syndrome (Orphanet:66629)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
Greig cephalopolysyndactyly syndrome (Orphanet:380)
Growth deficiency - brachydactyly - dysmorphism (Orphanet:2055)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Hallermann-Streiff syndrome (Orphanet:2108)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hereditary orotic aciduria (Orphanet:30)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism, Teebi type (Orphanet:1519)
Hypertrichosis cubiti - short stature (Orphanet:2220)
Hypogonadism - mitral valve prolapse - intellectual deficit (Orphanet:2233)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Imperforate oropharynx - costo vetebral anomalies (Orphanet:2759)
Infantile spasms - broad thumbs (Orphanet:3173)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 14 (OMIM:614424)
Kozlowski-Brown-Hardwick syndrome (Orphanet:2352)
LACTIC ACIDURIA DUE TO D-LACTIC ACID (OMIM:245450)
LEOPARD SYNDROME 2 (OMIM:611554)
LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Legius syndrome (Orphanet:137605)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Leukocyte adhesion deficiency (Orphanet:2968)
Lowry-MacLean syndrome (Orphanet:2409)
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY (OMIM:606369)
MACS syndrome (Orphanet:217335)
MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY (OMIM:248400)
MANDIBULOFACIAL DYSOSTOSIS WITH PTOSIS, AUTOSOMAL DOMINANT (OMIM:608257)
MAXILLOFACIAL DYSOSTOSIS (OMIM:155000)
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTICFEATURES (OMIM:613670)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 (OMIM:614562)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 (OMIM:614563)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (OMIM:615009)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 (OMIM:615637)
MGAT2-CDG (Orphanet:79329)
MOMO syndrome (Orphanet:2563)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marfan syndrome type 1 (Orphanet:284963)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mesomelia-synostoses syndrome (Orphanet:2496)
Mevalonic aciduria (Orphanet:29)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephalic osteodysplastic primordial dwarfism types 1 and 3 (Orphanet:2636)
Microcephalic primordial dwarfism, Toriello type (Orphanet:2643)
Microcephaly - brachydactyly - kyphoscoliosis (Orphanet:3433)
Microcephaly - intellectual deficit - phalangeal and neurological anomalies (Orphanet:137658)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microphthalmia with limb anomalies (Orphanet:1106)
Mietens syndrome (Orphanet:2557)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Monosomy 18q (Orphanet:1600)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Muenke syndrome (Orphanet:53271)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 8 (OMIM:615355)
Nager syndrome (Orphanet:245)
Native American myopathy (Orphanet:168572)
Nephrogenic diabetes insipidus - intracranial calcification (Orphanet:3145)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Neurofibromatosis - Noonan syndrome (Orphanet:638)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Non-distal trisomy 10q (Orphanet:1695)
Noonan syndrome (Orphanet:648)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
Occipital horn syndrome (Orphanet:198)
Oculoosteocutaneous syndrome (Orphanet:2713)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Ondine syndrome (Orphanet:661)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 3 (Orphanet:2752)
Osteoglophonic dwarfism (Orphanet:2645)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Overgrowth - macrocephaly - facial dysmorphism (Orphanet:137634)
PHAVER syndrome (Orphanet:2876)
Pai syndrome (Orphanet:1993)
Pfeiffer syndrome (Orphanet:710)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Postaxial acrofacial dysostosis (Orphanet:246)
Potocki-Shaffer syndrome (Orphanet:52022)
Prader-Willi syndrome (Orphanet:739)
Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome (Orphanet:276432)
Premature chromosome condensation with microcephaly and intellectual deficit (Orphanet:52183)
Proteus syndrome (Orphanet:744)
Proteus-like syndrome (Orphanet:2969)
Pseudoprogeria syndrome (Orphanet:2985)
RIENHOFF SYNDROME (OMIM:615582)
ROBERTS SYNDROME (OMIM:268300)
Ring chromosome 1 (Orphanet:1437)
Ring chromosome 10 (Orphanet:1438)
Roberts syndrome (Orphanet:3103)
Roifman syndrome (Orphanet:353298)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion (Orphanet:353281)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
Ruvalcaba syndrome (Orphanet:3121)
SCARF syndrome (Orphanet:3134)
SECKEL SYNDROME 1 (OMIM:210600)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SOTOS SYNDROME 1 (OMIM:117550)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
STEVENSON-CAREY SYNDROME (OMIM:611961)
Sakati-Nyhan syndrome (Orphanet:3128)
Seckel syndrome (Orphanet:808)
Sheldon-Hall syndrome (Orphanet:1147)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Short tarsus - absence of lower eyelashes (Orphanet:2832)
Shprintzen-Goldberg syndrome (Orphanet:2462)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sotos syndrome (Orphanet:821)
Stoll-Alembik-Finck syndrome (Orphanet:3200)
Symptomatic form of Coffin-Lowry syndrome in female carriers (Orphanet:276630)
Syndromic diarrhea (Orphanet:84064)
TREACHER COLLINS SYNDROME 1 (OMIM:154500)
TREACHER COLLINS SYNDROME 2 (OMIM:613717)
TREACHER COLLINS SYNDROME 3 (OMIM:248390)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 18p (Orphanet:3307)
Thanatophoric dysplasia (Orphanet:2655)
Thomas syndrome (Orphanet:3316)
Treacher-Collins syndrome (Orphanet:861)
Trisomy 17p (Orphanet:261290)
Trisomy 1q (Orphanet:261344)
Trisomy 20p (Orphanet:261318)
Trisomy 9p (Orphanet:236)
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME (OMIM:300280)
Ulbright-Hodes syndrome (Orphanet:3404)
Van Regemorter-Pierquin-Vamos syndrome (Orphanet:3419)
Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence (Orphanet:3201)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
W syndrome (Orphanet:2804)
Waardenburg syndrome type 3 (Orphanet:896)
Weaver syndrome (Orphanet:3447)
White matter hypoplasia - corpus callosum agenesis - intellectual deficit (Orphanet:3207)
Wiedemann-Steiner syndrome (Orphanet:319182)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked mandibulofacial dysostosis (Orphanet:1131)
XIA-GIBBS SYNDROME (OMIM:615829)
Zlotogora-Ogur syndrome (Orphanet:3253)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)