Abnormality of the philtrum

Symptom Information:

Symptom ID: HPO:0000288
Abnormal philtrum [HPO:0000288]
Abnormality of the paralabial region [HPO:0000288]
Philtrum anomaly [Orphanet:9000]
Abnormal philtrum [OMIM:Abnormal philtrum]
Anomalies of mouth, lip and philtrum [Orphanet:9000]
Anomaly of mouth, lip and philtrum [Orphanet:9000]
Cross references:
Orphanet:9000 "Anomalies of mouth, lip and philtrum" [Orphanet:9000]
OMIM: "Abnormal philtrum" [OMIM:Abnormal philtrum]
Is a (Direct Parents):
HPO         Abnormality of the mouth
Orphanet Abnormality of the mouth
Is a (Whole tree): HPO:
    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)
Database Frequency: 54 / 7739

All diseases associated with this symptom:

10q22.3q23.3 microduplication syndrome (Orphanet:276422)
14q12 microdeletion syndrome (Orphanet:261144)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p13.11 microdeletion syndrome (Orphanet:261236)
16q24.3 microdeletion syndrome (Orphanet:261250)
19p13.12 microdeletion syndrome (Orphanet:254346)
1q44 microdeletion syndrome (Orphanet:238769)
22q11.2 microduplication syndrome (Orphanet:1727)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2q31.1 microdeletion syndrome (Orphanet:251014)
AREDYLD syndrome (Orphanet:1133)
Ackerman syndrome (Orphanet:2561)
Acrofacial dysostosis, Catania type (Orphanet:1786)
Acrofacial dysostosis, Palagonia type (Orphanet:1787)
C syndrome (Orphanet:1308)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Craniolenticulosutural dysplasia (Orphanet:50814)
Crossed polysyndactyly (Orphanet:2935)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 17q (Orphanet:1597)
Distal monosomy 6p (Orphanet:96125)
Facial dysmorphism - shawl scrotum - joint laxity (Orphanet:1778)
Faciocardiorenal syndrome (Orphanet:1973)
Fetal alcohol syndrome (Orphanet:1915)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Geleophysic dysplasia (Orphanet:2623)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Holoprosencephaly (Orphanet:2162)
Intellectual deficit - sparse hair - brachydactyly (Orphanet:3051)
Jacobsen syndrome (Orphanet:2308)
Langer-Giedion syndrome (Orphanet:502)
Lateral meningocele syndrome (Orphanet:2789)
Monosomy 18p (Orphanet:1598)
Multiple sulfatase deficiency (Orphanet:585)
Neurofaciodigitorenal syndrome (Orphanet:2673)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Perlman syndrome (Orphanet:2849)
Pilodental dysplasia - refractive errors (Orphanet:2892)
Polysyndactyly - cardiac malformation (Orphanet:2934)
Rosselli-Gulienetti syndrome (Orphanet:90339)
Short stature - wormian bones - dextrocardia (Orphanet:2863)
Synostosis - microcephaly - scoliosis (Orphanet:3268)
Telecanthus - hypertelorism - strabismus - pes cavus (Orphanet:3293)
Toluene embryopathy (Orphanet:1920)
Transaldolase deficiency (Orphanet:101028)
Trisomy 17p (Orphanet:261290)
Trisomy 20p (Orphanet:261318)
Trisomy 4p (Orphanet:1738)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Zimmermann-Laband syndrome (Orphanet:3473)
Zlotogora-Ogur syndrome (Orphanet:3253)