Deep philtrum

Symptom Information:

Symptom ID: HPO:0002002
Synonyms:
Depressed philtrum [HPO:0002002]
Philtrum, deep [HPO:0002002]
Prominent philtrum [HPO:0002002]
Deep philtrum [OMIM:Deep philtrum]
Prominent philtrum [OMIM:Prominent philtrum]
Philtrum deeply grooved [Orphanet:9600]
Deep philtrum (rare) [OMIM:Deep philtrum (rare)]
Quality:
Cross references:
Orphanet:9600 "Philtrum deeply grooved" [Orphanet:9600]
OMIM: "Deep philtrum" [OMIM:Deep philtrum]
OMIM: "Prominent philtrum" [OMIM:Prominent philtrum]
OMIM: "Deep philtrum (rare)" [OMIM:Deep philtrum (rare)]
Is a (Direct Parents):
HPO         Abnormality of the philtrum
Orphanet Abnormality of the mouth
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)
                      Deep philtrum(HPO:0002002)
MedDRA:
Database Frequency: 42 / 7739
Resource:

All diseases associated with this symptom:

14q11.2 microdeletion syndrome (Orphanet:261120)
3q29 microduplication (Orphanet:251038)
Ackerman syndrome (Orphanet:2561)
Acromicric dysplasia (Orphanet:969)
Auriculoocular anomalies - cleft lip (Orphanet:71270)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
Beemer-Ertbruggen syndrome (Orphanet:1237)
Branchio-oculo-facial syndrome (Orphanet:1297)
CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Corpus callosum agenesis - double urinary collecting system (Orphanet:1492)
Dysmorphism - pectus carinatum - joint laxity (Orphanet:2104)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Familial benign copper deficiency (Orphanet:1551)
Hernandez-Aguirre Negrete syndrome (Orphanet:2139)
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome (Orphanet:369837)
Joubert syndrome 10 (OMIM:300804)
KNIEST-LIKE DYSPLASIA WITH PURSED LIPS AND ECTOPIA LENTIS (OMIM:245160)
Keutel syndrome (Orphanet:85202)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Langer-Giedion syndrome (Orphanet:502)
Large congenital melanocytic nevus (Orphanet:626)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marfanoid habitus - intellectual deficit, autosomal recessive (Orphanet:2463)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microphthalmia with limb anomalies (Orphanet:1106)
Monosomy 13q14 (Orphanet:1587)
Nijmegen breakage syndrome (Orphanet:647)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
Noonan syndrome-like disorder with loose anagen hair (Orphanet:2701)
Oculocerebrorenal syndrome (Orphanet:534)
Phocomelia - ectrodactyly - deafness - sinus arrhythmia (Orphanet:2878)
SCARF syndrome (Orphanet:3134)
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Temtamy preaxial brachydactyly syndrome (Orphanet:363417)
Transaldolase deficiency (Orphanet:101028)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
Trismus - pseudocamptodactyly (Orphanet:3377)
Weaver syndrome (Orphanet:3447)
White forelock with malformations (Orphanet:2475)