Smooth philtrum

Symptom Information:

Symptom ID: HPO:0000319
Synonyms:
Flat philtrum [HPO:0000319]
Indistinct philtrum [HPO:0000319]
Philtrum, smooth [HPO:0000319]
Simple philtrum [HPO:0000319]
Flat philtrum [Orphanet:9640]
Flat philtrum [OMIM:Flat philtrum]
Simple philtrum [OMIM:Simple philtrum]
Smooth philtrum [OMIM:Smooth philtrum]
Philtrum flat/large/featureless/absent cupidon bows [Orphanet:9640]
Dysmorphism [MedDRA:10066054]
Congenital anomalies of ear, face, and neck [MedDRA:10066054]
Face malformation [MedDRA:10066054]
Face malformation NOS [MedDRA:10066054]
Facial dysmorphism [MedDRA:10066054]
Other specified congenital anomalies of face and neck [MedDRA:10066054]
Other specified congenital anomaly of face and neck [MedDRA:10066054]
Unspecified congenital anomalies of face and neck [MedDRA:10066054]
Flat philtrum [MedDRA:10066054]
Facial dysmorphism (68%) [OMIM:Facial dysmorphism (68%)]
Facial dysmorphism (in some patients) [OMIM:Facial dysmorphism (in some patients)]
Facial dysmorphism (in up to 90%) [OMIM:Facial dysmorphism (in up to 90%)]
Smooth philtrum (in some patients) [OMIM:Smooth philtrum (in some patients)]
Smooth philtrum (rare) [OMIM:Smooth philtrum (rare)]
Quality:
Cross references:
Orphanet:9640 "Philtrum flat/large/featureless/absent cupidon bows" [Orphanet:9640]
OMIM: "Flat philtrum" [OMIM:Flat philtrum]
OMIM: "Simple philtrum" [OMIM:Simple philtrum]
OMIM: "Smooth philtrum" [OMIM:Smooth philtrum]
OMIM: "Facial dysmorphism (68%)" [OMIM:Facial dysmorphism (68%)]
OMIM: "Facial dysmorphism (in some patients)" [OMIM:Facial dysmorphism (in some patients)]
OMIM: "Facial dysmorphism (in up to 90%)" [OMIM:Facial dysmorphism (in up to 90%)]
OMIM: "Smooth philtrum (in some patients)" [OMIM:Smooth philtrum (in some patients)]
OMIM: "Smooth philtrum (rare)" [OMIM:Smooth philtrum (rare)]
UMLS:C1142533 "Flat philtrum" [Orphanet:9640]
Is a (Direct Parents):
HPO         Abnormality of the philtrum
Orphanet Broad philtrum
Orphanet Abnormality of the mouth
MedDRA Musculoskeletal disorders congenital NEC
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)
                      Smooth philtrum(HPO:0000319)
MedDRA:
Musculoskeletal and connective tissue disorders(MedDRA:10028395)
    Musculoskeletal and connective tissue disorders congenital(MedDRA:10028396)
       Musculoskeletal disorders congenital NEC(MedDRA:10029513)
          Smooth philtrum(HPO:0000319)
Database Frequency: 72 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
17p11.2 microduplication syndrome (Orphanet:1713)
17q11 microdeletion syndrome (Orphanet:97685)
17q11.2 microduplication syndrome (Orphanet:139474)
17q12 microduplication syndrome (Orphanet:261272)
2q32q33 microdeletion syndrome (Orphanet:251019)
8q22.1 microdeletion syndrome (Orphanet:178303)
AREDYLD syndrome (Orphanet:1133)
Acrocallosal syndrome (Orphanet:36)
Adenylosuccinate lyase deficiency (Orphanet:46)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 (OMIM:616001)
Bifunctional enzyme deficiency (Orphanet:300)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Blepharophimosis-intellectual deficit syndrome, Verloes type (Orphanet:293725)
Brachytelephalangy - dysmorphism - Kallmann syndrome (Orphanet:1295)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
COG1-CDG (Orphanet:263508)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Congenital short bowel syndrome (Orphanet:2301)
Cranioectodermal dysplasia 4 (OMIM:614378)
Craniofacial dysplasia-osteopenia syndrome (Orphanet:314555)
Craniolenticulosutural dysplasia (Orphanet:50814)
DPM1-CDG (Orphanet:79322)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal monosomy 1q (Orphanet:36367)
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET (OMIM:129540)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 (OMIM:614744)
FACIOTHORACOGENITAL SYNDROME (OMIM:227320)
Femoral-facial syndrome (Orphanet:1988)
Floating-Harbor syndrome (Orphanet:2044)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Geleophysic dysplasia (Orphanet:2623)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
Gómez-López-Hernández syndrome (Orphanet:1532)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT (OMIM:235830)
Hennekam syndrome (Orphanet:2136)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Hyperlysinemia, type I (OMIM:238700)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED (OMIM:300048)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Lateral meningocele syndrome (Orphanet:2789)
MEIER-GORLIN SYNDROME 2 (OMIM:613800)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17 (OMIM:615009)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MOMO syndrome (Orphanet:2563)
Mandibulofacial dysostosis - macroblepharon - macrostomia (Orphanet:357158)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Methylmalonic acidemia with homocystinuria, type cblC (Orphanet:79282)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Opitz G/BBB syndrome (Orphanet:2745)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
Pachygyria - epilepsy - intellectual deficit - dysmorphism (Orphanet:94084)
RIENHOFF SYNDROME (OMIM:615582)
SENER SYNDROME (OMIM:606156)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Sialuria (Orphanet:3166)
Singleton-Merten dysplasia (Orphanet:85191)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Waardenburg syndrome type 1 (Orphanet:894)
Wrinkly skin syndrome (Orphanet:2834)
X-linked Opitz G/BBB syndrome (Orphanet:306597)