Long philtrum
Symptom Information:
Symptom ID: | HPO:0000343 | |||||||
Synonyms: |
|
|||||||
Quality: | ||||||||
Cross references: |
|
|||||||
Is a (Direct Parents): |
|
|||||||
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) |