Epicanthus

Symptom Information:

Symptom ID: HPO:0000286
Synonyms:
Epicanthal fold [HPO:0000286]
Epicanthal folds [HPO:0000286]
Epicanthic folds [HPO:0000286]
Epicanthus palpebralis [HPO:0000286]
Epicanthus palpebralis (finding) [Orphanet:7200]
Epicanthus palpebralis [Orphanet:7200]
Epicanthal fold [OMIM:Epicanthal fold]
Epicanthal folds [OMIM:Epicanthal folds]
Epicanthic folds [OMIM:Epicanthic folds]
Epicanthus [OMIM:Epicanthus]
Epicanthic folds [Orphanet:7200]
Epicanthal folds (1 patient) [OMIM:Epicanthal folds (1 patient)]
Epicanthal folds (3/4 patients) [OMIM:Epicanthal folds (3/4 patients)]
Epicanthal folds (39%) [OMIM:Epicanthal folds (39%)]
Epicanthal folds (68%) [OMIM:Epicanthal folds (68%)]
Epicanthal folds (89%) [OMIM:Epicanthal folds (89%)]
Epicanthal folds (in 1 patient) [OMIM:Epicanthal folds (in 1 patient)]
Epicanthal folds (in some patients) [OMIM:Epicanthal folds (in some patients)]
Epicanthic folds (in some patients) [OMIM:Epicanthic folds (in some patients)]
Epicanthus (in one family) [OMIM:Epicanthus (in one family)]
Epicanthus (in some patients) [OMIM:Epicanthus (in some patients)]
Quality:
Cross references:
Orphanet:7200 "Epicanthic folds" [Orphanet:7200]
OMIM: "Epicanthal fold" [OMIM:Epicanthal fold]
OMIM: "Epicanthal folds" [OMIM:Epicanthal folds]
OMIM: "Epicanthic folds" [OMIM:Epicanthic folds]
OMIM: "Epicanthus" [OMIM:Epicanthus]
OMIM: "Epicanthal folds (1 patient)" [OMIM:Epicanthal folds (1 patient)]
OMIM: "Epicanthal folds (3/4 patients)" [OMIM:Epicanthal folds (3/4 patients)]
OMIM: "Epicanthal folds (39%)" [OMIM:Epicanthal folds (39%)]
OMIM: "Epicanthal folds (68%)" [OMIM:Epicanthal folds (68%)]
OMIM: "Epicanthal folds (89%)" [OMIM:Epicanthal folds (89%)]
OMIM: "Epicanthal folds (in 1 patient)" [OMIM:Epicanthal folds (in 1 patient)]
OMIM: "Epicanthal folds (in some patients)" [OMIM:Epicanthal folds (in some patients)]
OMIM: "Epicanthic folds (in some patients)" [OMIM:Epicanthic folds (in some patients)]
OMIM: "Epicanthus (in one family)" [OMIM:Epicanthus (in one family)]
OMIM: "Epicanthus (in some patients)" [OMIM:Epicanthus (in some patients)]
UMLS:C0678230 "Epicanthus" [HPO:0000286]
UMLS:C1303004 "Epicanthus palpebralis" [Orphanet:7200]
Is a (Direct Parents):
HPO         Abnormality of the eyelid
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)
                      Epicanthus(HPO:0000286)
                Abnormality of the periorbital region(HPO:0000606)
                   Abnormality of the eyelid(HPO:0000492)
                      Epicanthus(HPO:0000286)
MedDRA:
Database Frequency: 371 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
14q11.2 microdeletion syndrome (Orphanet:261120)
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)
17q12 microdeletion syndrome (Orphanet:261265)
17q21.31 microduplication syndrome (Orphanet:217340)
17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
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)
3q13 microdeletion syndrome (Orphanet:1621)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
5p13 microduplication syndrome (Orphanet:329802)
6p22 microdeletion syndrome (Orphanet:251046)
6q16 deletion syndrome (Orphanet:171829)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
8p23.1 microdeletion syndrome (Orphanet:251071)
8q12 microduplication syndrome (Orphanet:228399)
8q21.11 microdeletion syndrome (Orphanet:284160)
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
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)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Aarskog-Scott syndrome (Orphanet:915)
Abruzzo-Erickson syndrome (Orphanet:921)
Achalasia - microcephaly (Orphanet:929)
Acro-oto-ocular syndrome (Orphanet:2980)
Acro-renal-mandibular syndrome (Orphanet:958)
Acro-renal-ocular syndrome (Orphanet:959)
Acrocallosal syndrome (Orphanet:36)
Acrocephalopolydactyly (Orphanet:221054)
Acrodysostosis (Orphanet:950)
Acrodysostosis with multiple hormone resistance (Orphanet:280651)
Alpha-mannosidosis (Orphanet:61)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Aminopterin/methotrexate embryofetopathy (Orphanet:1908)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Autosomal agammaglobulinemia (Orphanet:33110)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive omodysplasia (Orphanet:93329)
BARATELA-SCOTT SYNDROME (OMIM:300881)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
Baller-Gerold syndrome (Orphanet:1225)
Baraitser-Winter syndrome (Orphanet:2995)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Beckwith-Wiedemann syndrome due to NSD1 mutation (Orphanet:238613)
Bifunctional enzyme deficiency (Orphanet:300)
Bilateral renal agenesis (Orphanet:1848)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Blepharophimosis - radioulnar synostosis (Orphanet:1256)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blue diaper syndrome (Orphanet:94086)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Braddock syndrome (Orphanet:52047)
Brittle cornea syndrome (Orphanet:90354)
C syndrome (Orphanet:1308)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
CARPENTER SYNDROME 1 (OMIM:201000)
CARPENTER SYNDROME 2 (OMIM:614976)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME (OMIM:613603)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CK syndrome (Orphanet:251383)
CODAS syndrome (Orphanet:1458)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Carpenter syndrome (Orphanet:65759)
Carpenter-Waziri syndrome (Orphanet:93973)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract - aberrant oral frenula - growth delay (Orphanet:1373)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Caudal appendage - deafness (Orphanet:1123)
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)
Cleft palate - short stature - vertebral anomalies (Orphanet:2015)
Coffin-Lowry syndrome (Orphanet:192)
Coffin-Siris syndrome (Orphanet:1465)
Conductive deafness - ptosis - skeletal anomalies (Orphanet:3236)
Congenital bile acid synthesis defect type 4 (Orphanet:79095)
Costello syndrome (Orphanet:3071)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
Craniofacial dyssynostosis (Orphanet:1516)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Cutis laxa (Orphanet:209)
Deafness - genital anomalies - metacarpal and metatarsal synostosis (Orphanet:3224)
Deafness - intellectual deficit, Martin-Probst type (Orphanet:85321)
Deafness - lymphedema - leukemia (Orphanet:3226)
Deafness - onychodystrophy (Orphanet:3231)
Desmosterolosis (Orphanet:35107)
Diaphanospondylodysostosis (Orphanet:66637)
Dislocation of the hip - dysmorphism (Orphanet:2412)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 1q (Orphanet:36367)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 6p (Orphanet:96125)
Distal monosomy 9p (Orphanet:1642)
Down syndrome (Orphanet:870)
Dubowitz syndrome (Orphanet:235)
Dysmorphism - cleft palate - loose skin (Orphanet:1779)
EPICANTHUS (OMIM:131500)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome type 1 (Orphanet:90309)
Ehlers-Danlos syndrome, arthrochalasic type (Orphanet:1899)
Ehlers-Danlos syndrome, classic type (Orphanet:287)
Ehlers-Danlos syndrome, dermatosparaxis type (Orphanet:1901)
Ehlers-Danlos syndrome, hypermobility type (Orphanet:285)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Ehlers-Danlos syndrome, progeroid type (Orphanet:75496)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
FANCONI ANEMIA, COMPLEMENTATION GROUP N (OMIM:610832)
FEINGOLD SYNDROME 1 (OMIM:164280)
FRAXE intellectual deficit (Orphanet:100973)
FRONTOOCULAR SYNDROME (OMIM:605321)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Facial ectodermal dysplasia (Orphanet:1807)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Fetal alcohol syndrome (Orphanet:1915)
Fetal hydantoin syndrome (Orphanet:1912)
Fetal trimethadione syndrome (Orphanet:1913)
Fetal valproate syndrome (Orphanet:1906)
Free sialic acid storage disease, infantile form (Orphanet:309324)
Freeman-Sheldon syndrome (Orphanet:2053)
Frontonasal dysplasia (Orphanet:250)
GMS syndrome (Orphanet:2090)
Galloway-Mowat syndrome (Orphanet:2065)
Gingival fibromatosis-hypertrichosis syndrome (Orphanet:2026)
Glomerulonephritis - sparse hair - telangiectasis (Orphanet:2087)
Glycogen storage disease due to aldolase A deficiency (Orphanet:57)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Gordon syndrome (Orphanet:376)
Gorlin syndrome (Orphanet:377)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS (OMIM:610680)
HYPERTELORISM AND TETRALOGY OF FALLOT (OMIM:239711)
Hall-Riggs syndrome (Orphanet:2107)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Hennekam syndrome (Orphanet:2136)
Hirsutism - skeletal dysplasia - intellectual deficit (Orphanet:2156)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly (Orphanet:2180)
Hydrocephaly - low insertion umbilicus (Orphanet:2184)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Hypoglossia - hypodactyly (Orphanet:989)
Hypotonia - cystinuria syndrome (Orphanet:163690)
ICF syndrome (Orphanet:2268)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 (OMIM:242860)
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 (OMIM:614069)
Imperforate oropharynx - costo vetebral anomalies (Orphanet:2759)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy (Orphanet:2958)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Pai type (Orphanet:85322)
Intellectual deficit, X-linked, Vitale type (Orphanet:85289)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Ito hypomelanosis (Orphanet:435)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
Juberg-Marsidi syndrome (Orphanet:93972)
Keipert syndrome (Orphanet:2662)
Knobloch syndrome (Orphanet:1571)
Koolen-De Vries syndrome (Orphanet:96169)
LEOPARD SYNDROME 1 (OMIM:151100)
LEOPARD SYNDROME 2 (OMIM:611554)
LIG4 syndrome (Orphanet:99812)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Laurence-Moon syndrome (Orphanet:2377)
Legius syndrome (Orphanet:137605)
Lethal multiple pterygium syndrome (Orphanet:33108)
Leukocyte adhesion deficiency (Orphanet:2968)
Lichstenstein syndrome (Orphanet:2390)
Lymphedema - atrial septal defects - facial changes (Orphanet:86915)
MEGAEPIPHYSEAL DWARFISM (OMIM:249230)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, X-LINKED 91 (OMIM:300577)
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE (OMIM:612947)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY (OMIM:615760)
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA (OMIM:608624)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MOMO syndrome (Orphanet:2563)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marshall syndrome (Orphanet:560)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Metaphyseal acroscyphodysplasia (Orphanet:1240)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Microcephaly - deafness - intellectual deficit (Orphanet:2533)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly - seizures - intellectual deficit - heart disease (Orphanet:2519)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Microcornea - glaucoma - absent frontal sinuses (Orphanet:2536)
Miller-Dieker syndrome (Orphanet:531)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies (Orphanet:369897)
Moebius syndrome (Orphanet:570)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18p (Orphanet:1598)
Monosomy 18q (Orphanet:1600)
Monosomy 22q13 (Orphanet:48652)
Monosomy 5p (Orphanet:281)
Monosomy 9p (Orphanet:261112)
Monosomy 9q22.3 (Orphanet:77301)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Mucolipidosis type 2 (Orphanet:576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Multiple congenital anomalies - hypotonia - seizures syndrome (Orphanet:280633)
Myotonia permanens (Orphanet:99735)
NOONAN SYNDROME 1 (OMIM:163950)
NOONAN SYNDROME 4 (OMIM:610733)
NOONAN SYNDROME 8 (OMIM:615355)
Neonatal adrenoleukodystrophy (Orphanet:44)
Neuralgic amyotrophy (Orphanet:2901)
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency (Orphanet:88639)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Non-distal monosomy 10q (Orphanet:1581)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome (Orphanet:648)
Noonan syndrome with multiple lentigines (Orphanet:500)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OTOFACIOOSSEOUS-GONADAL SYNDROME (OMIM:601976)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculodentodigital dysplasia (Orphanet:2710)
Okamoto syndrome (Orphanet:2729)
Okihiro syndrome (Orphanet:93293)
Omphalocele syndrome, Shprintzen-Goldberg type (Orphanet:3164)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
PEHO syndrome (Orphanet:2836)
PEHO-like syndrome (Orphanet:99807)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 2B (OMIM:202370)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PHAVER syndrome (Orphanet:2876)
PTERYGIUM COLLI, ISOLATED (OMIM:177990)
Penoscrotal transposition (Orphanet:2842)
Perlman syndrome (Orphanet:2849)
Peroxisomal acyl-CoA oxidase deficiency (Orphanet:2971)
Pfeiffer-Palm-Teller syndrome (Orphanet:2871)
Phocomelia, Schinzel type (Orphanet:2879)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Pontocerebellar hypoplasia, type 9 (OMIM:615809)
Postaxial polydactyly - dental and vertebral anomalies (Orphanet:2916)
Potocki-Shaffer syndrome (Orphanet:52022)
Progeroid syndrome, Petty type (Orphanet:2963)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Pyruvate dehydrogenase E3-binding protein deficiency (Orphanet:255182)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic dysplasia, Patterson-Lowry type (Orphanet:2831)
Ring chromosome 6 (Orphanet:1448)
Ring chromosome 8 (Orphanet:1450)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome (Orphanet:783)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SCARF syndrome (Orphanet:3134)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Scalp-ear-nipple syndrome (Orphanet:2036)
Schilbach-Rott syndrome (Orphanet:2353)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Sialuria (Orphanet:3166)
Sillence syndrome (Orphanet:3168)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spinocerebellar ataxia - dysmorphism (Orphanet:1185)
Spondyloepimetaphyseal dysplasia, Geneviève type (Orphanet:168454)
Stickler syndrome (Orphanet:828)
Subaortic stenosis - short stature (Orphanet:3191)
Summitt syndrome (Orphanet:3210)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 (OMIM:234050)
Tetrasomy 12p (Orphanet:884)
Tetrasomy 18p (Orphanet:3307)
Tetrasomy X (Orphanet:9)
Toluene embryopathy (Orphanet:1920)
Toriello-Lacassie-Droste syndrome (Orphanet:3339)
Trigonocephaly - broad thumbs (Orphanet:3365)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Trisomy 12p (Orphanet:1699)
Trisomy 18 (Orphanet:3380)
Trisomy 20p (Orphanet:261318)
Trisomy X (Orphanet:3375)
Trisomy Xq28 (Orphanet:1762)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
VAN MALDERGEM SYNDROME 1 (OMIM:601390)
VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Velo-facial-skeletal syndrome (Orphanet:3424)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Warsaw breakage syndrome (Orphanet:280558)
Weaver syndrome (Orphanet:3447)
White forelock with malformations (Orphanet:2475)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wolf-Hirschhorn syndrome (Orphanet:280)
Wrinkly skin syndrome (Orphanet:2834)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)
X-linked mandibulofacial dysostosis (Orphanet:1131)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
Zunich-Kaye syndrome (Orphanet:3474)
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME (OMIM:601321)