Long philtrum

Symptom Information:

Symptom ID: HPO:0000343
Synonyms:
Long philtrum [OMIM:Long philtrum]
Long philtrum [Orphanet:9520]
Long philtrum (1/4 patients) [OMIM:Long philtrum (1/4 patients)]
Long philtrum (39%) [OMIM:Long philtrum (39%)]
Long philtrum (65%) [OMIM:Long philtrum (65%)]
Long philtrum (in 1 patient) [OMIM:Long philtrum (in 1 patient)]
Long philtrum (in some patients) [OMIM:Long philtrum (in some patients)]
Quality:
Cross references:
Orphanet:9520 "Long philtrum" [Orphanet:9520]
OMIM: "Long philtrum" [OMIM:Long philtrum]
OMIM: "Long philtrum (1/4 patients)" [OMIM:Long philtrum (1/4 patients)]
OMIM: "Long philtrum (39%)" [OMIM:Long philtrum (39%)]
OMIM: "Long philtrum (65%)" [OMIM:Long philtrum (65%)]
OMIM: "Long philtrum (in 1 patient)" [OMIM:Long philtrum (in 1 patient)]
OMIM: "Long philtrum (in some patients)" [OMIM:Long philtrum (in some patients)]
Is a (Direct Parents):
Orphanet Abnormality of the mouth
HPO         Abnormality of the philtrum
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 philtrum(HPO:0000288)
                      Long philtrum(HPO:0000343)
MedDRA:
Database Frequency: 262 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16q24.3 microdeletion syndrome (Orphanet:261250)
19p13.12 microdeletion syndrome (Orphanet:254346)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
20p12.3 microdeletion syndrome (Orphanet:261295)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
2q32q33 microdeletion syndrome (Orphanet:251019)
3-hydroxyisobutyric aciduria (Orphanet:939)
3M syndrome (Orphanet:2616)
3q13 microdeletion syndrome (Orphanet:1621)
6q25 microdeletion syndrome (Orphanet:251056)
8p23.1 microduplication syndrome (Orphanet:251076)
8q12 microduplication syndrome (Orphanet:228399)
8q22.1 microdeletion syndrome (Orphanet:178303)
AARSKOG SYNDROME, AUTOSOMAL DOMINANT (OMIM:100050)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIALDYSMORPHISM, AND OTHER CONGENITAL ANOMALIES (OMIM:300887)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Aarskog-Scott syndrome (Orphanet:915)
Achondrogenesis (Orphanet:932)
Achondrogenesis type 1A (Orphanet:93299)
Achondrogenesis type 1B (Orphanet:93298)
Achondrogenesis type 2 (Orphanet:93296)
Acrocallosal syndrome (Orphanet:36)
Acromicric dysplasia (Orphanet:969)
Acroosteolysis, dominant type (Orphanet:955)
Adenylosuccinate lyase deficiency (Orphanet:46)
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 (Orphanet:98791)
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies (Orphanet:1101)
Antley-Bixler syndrome (Orphanet:83)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Arterial tortuosity syndrome (Orphanet:3342)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant omodysplasia (Orphanet:93328)
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 deafness-onychodystrophy syndrome (Orphanet:79500)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive omodysplasia (Orphanet:93329)
Autosomal recessive spondylocostal dysostosis (Orphanet:2311)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome 17 (OMIM:615994)
Bifunctional enzyme deficiency (Orphanet:300)
Blepharonasofacial malformation syndrome (Orphanet:1252)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Brachymorphism - onychodysplasia - dysphalangism (Orphanet:1292)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
C syndrome (Orphanet:1308)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CHROMOSOME 5q12 DELETION SYNDROME (OMIM:615668)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CHST3-related skeletal dysplasia (Orphanet:263463)
COFS syndrome (Orphanet:1466)
COLD-INDUCED SWEATING SYNDROME 1 (OMIM:272430)
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTALDELAY (OMIM:616266)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Central diabetes insipidus (Orphanet:178029)
Cerebro-costo-mandibular syndrome (Orphanet:1393)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Chondrodysplasia, Blomstrand type (Orphanet:50945)
Cold-induced sweating syndrome (Orphanet:157820)
Congenital intrauterine infection-like syndrome (Orphanet:1229)
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (Orphanet:300284)
Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis (Orphanet:352662)
Cornelia de Lange syndrome (Orphanet:199)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Costello syndrome (Orphanet:3071)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniofaciofrontodigital syndrome (Orphanet:363705)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis (Orphanet:171839)
Cutis laxa (Orphanet:209)
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (Orphanet:221145)
DEND syndrome (Orphanet:79134)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Deafness - onychodystrophy (Orphanet:3231)
Delayed speech - facial asymmetry - strabismus - ear lobe creases (Orphanet:3038)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 3p (Orphanet:1620)
Distal trisomy 15q (Orphanet:1707)
Dyschromatosis symmetrica hereditaria (Orphanet:41)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Emanuel syndrome (Orphanet:96170)
Emery-Nelson syndrome (Orphanet:1927)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Epilepsy telangiectasia (Orphanet:1951)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
FACIOCARDIOMELIC SYNDROME (OMIM:612731)
FACIOTHORACOGENITAL SYNDROME (OMIM:227320)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Femoral-facial syndrome (Orphanet:1988)
Fetal akinesia deformation sequence (Orphanet:994)
Fetal valproate syndrome (Orphanet:1906)
Fibrochondrogenesis (Orphanet:2021)
Fine-Lubinsky syndrome (Orphanet:1272)
Flat face - microstomia - ear anomaly (Orphanet:1968)
Freeman-Sheldon syndrome (Orphanet:2053)
Fryns syndrome (Orphanet:2059)
GAPO syndrome (Orphanet:2067)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
GM1 gangliosidosis (Orphanet:354)
Geleophysic dysplasia (Orphanet:2623)
Genitopatellar syndrome (Orphanet:85201)
Goldblatt syndrome (Orphanet:166272)
Grix-Blankenship-Peterson syndrome (Orphanet:2099)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
HAJDU-CHENEY SYNDROME (OMIM:102500)
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT (OMIM:235830)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
HYPERTELORISM AND TETRALOGY OF FALLOT (OMIM:239711)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Histidinuria - renal tubular defect (Orphanet:2158)
Hurler syndrome (Orphanet:93473)
Hypertelorism - hypospadias - polysyndactyly syndrome (Orphanet:2211)
Hypertelorism, Teebi type (Orphanet:1519)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
Intellectual deficit - short stature - hypertelorism (Orphanet:3074)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Jacobsen syndrome (Orphanet:2308)
KBG syndrome (Orphanet:2332)
Langer-Giedion syndrome (Orphanet:502)
Large congenital melanocytic nevus (Orphanet:626)
Lateral meningocele syndrome (Orphanet:2789)
Lathosterolosis (Orphanet:46059)
Lethal multiple pterygium syndrome (Orphanet:33108)
MACROCEPHALY, BENIGN FAMILIAL (OMIM:153470)
MEIER-GORLIN SYNDROME 5 (OMIM:613805)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MOMO syndrome (Orphanet:2563)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Macrocephaly-autism syndrome (Orphanet:210548)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Marden-Walker syndrome (Orphanet:2461)
Marshall syndrome (Orphanet:560)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Mesomelia-synostoses syndrome (Orphanet:2496)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome (Orphanet:329332)
Microlissencephaly - micromelia (Orphanet:50810)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Mitochondrial myopathy and sideroblastic anemia (Orphanet:2598)
Monosomy 22q13 (Orphanet:48652)
Monosomy 9p (Orphanet:261112)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
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)
Non-distal trisomy 13q (Orphanet:1702)
Non-progressive cerebellar ataxia with intellectual deficit (Orphanet:314647)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
Occipital horn syndrome (Orphanet:198)
Oculocerebrorenal syndrome (Orphanet:534)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculootodental syndrome (Orphanet:99806)
Okamoto syndrome (Orphanet:2729)
Omodysplasia (Orphanet:2733)
Opsismodysplasia (Orphanet:2746)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Osteoglophonic dwarfism (Orphanet:2645)
Otodental syndrome (Orphanet:2791)
Overgrowth - macrocephaly - facial dysmorphism (Orphanet:137634)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
Permanent neonatal diabetes mellitus (Orphanet:99885)
Peters-plus syndrome (Orphanet:709)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
Piebaldism (Orphanet:2884)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Pilodental dysplasia - refractive errors (Orphanet:2892)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Pontocerebellar hypoplasia type 3 (Orphanet:97249)
Ptosis - upper ocular movement limitation - absence of lacrimal punctum (Orphanet:228396)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase deficiency (Orphanet:765)
Qazi-Markouizos syndrome (Orphanet:3010)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Ring chromosome 1 (Orphanet:1437)
Ring chromosome 10 (Orphanet:1438)
Roifman syndrome (Orphanet:353298)
SCARF syndrome (Orphanet:3134)
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
SIMOSA CRANIOFACIAL SYNDROME (OMIM:182150)
SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL (OMIM:602613)
Sanjad-Sakati syndrome (Orphanet:2323)
Schwartz-Jampel syndrome (Orphanet:800)
Sheldon-Hall syndrome (Orphanet:1147)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short stature - heart defect - craniofacial anomalies (Orphanet:1088)
Sialuria (Orphanet:3166)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Spondylo-ocular syndrome (Orphanet:85194)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Stickler syndrome type 3 (Orphanet:166100)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (Orphanet:308386)
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (Orphanet:308393)
Syndromic diarrhea (Orphanet:84064)
TEMPLE-BARAITSER SYNDROME (OMIM:611816)
THREE M SYNDROME 1 (OMIM:273750)
THREE M SYNDROME 2 (OMIM:612921)
TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Temtamy syndrome (Orphanet:1777)
Tetrasomy 12p (Orphanet:884)
Tetrasomy 18p (Orphanet:3307)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trisomy 13 (Orphanet:3378)
VERHEIJ SYNDROME (OMIM:615583)
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay (Orphanet:73246)
WHISTLING FACE SYNDROME, RECESSIVE FORM (OMIM:277720)
Weaver syndrome (Orphanet:3447)
Wiedemann-Steiner syndrome (Orphanet:319182)
Williams syndrome (Orphanet:904)
Wrinkly skin syndrome (Orphanet:2834)
X-linked distal arthrogryposis multiplex congenita (Orphanet:1145)
X-linked intellectual deficit, Najm type (Orphanet:163937)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)