Thin upper lip vermilion

Symptom Information:

Symptom ID: HPO:0000219
Synonyms:
Thin upper lip [HPO:0000219]
THIN UPPER LIPS [HPO:0000219]
Thin vermilion border of upper lip [HPO:0000219]
Thin upper lip vermillon [Orphanet:9160]
Thin upper lip [OMIM:Thin upper lip]
Thin upper lips [OMIM:Thin upper lips]
Thin vermilion border of upper lip [OMIM:Thin vermilion border of upper lip]
Thin/retracted lips [Orphanet:9160]
Thin upper lip (29%) [OMIM:Thin upper lip (29%)]
Thin upper lip (50%) [OMIM:Thin upper lip (50%)]
Thin upper lip (female) [OMIM:Thin upper lip (female)]
Thin upper lip (in 1 patient) [OMIM:Thin upper lip (in 1 patient)]
Quality:
Cross references:
HPO:0000233 "Thin vermilion border" [Orphanet:9160]
Orphanet:9160 "Thin/retracted lips" [Orphanet:9160]
OMIM: "Thin upper lip" [OMIM:Thin upper lip]
OMIM: "Thin upper lips" [OMIM:Thin upper lips]
OMIM: "Thin vermilion border of upper lip" [OMIM:Thin vermilion border of upper lip]
OMIM: "Thin upper lip (29%)" [OMIM:Thin upper lip (29%)]
OMIM: "Thin upper lip (50%)" [OMIM:Thin upper lip (50%)]
OMIM: "Thin upper lip (female)" [OMIM:Thin upper lip (female)]
OMIM: "Thin upper lip (in 1 patient)" [OMIM:Thin upper lip (in 1 patient)]
Is a (Direct Parents):
HPO         Abnormality of upper lip vermillion
HPO         Thin vermilion border
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 lip(HPO:0000159)
                      Thin vermilion border(HPO:0000233)
                         Thin upper lip vermilion(HPO:0000219)
                      Abnormality of upper lip(HPO:0000177)
                         Abnormality of upper lip vermillion(HPO:0011339)
                            Thin upper lip vermilion(HPO:0000219)
MedDRA:
Database Frequency: 112 / 7739
Resource:

All diseases associated with this symptom:

16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
2q23.1 microdeletion syndrome (Orphanet:228402)
3q29 microdeletion syndrome (Orphanet:65286)
8q22.1 microdeletion syndrome (Orphanet:178303)
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA (OMIM:613623)
AICA-ribosiduria (Orphanet:250977)
AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Adenylosuccinate lyase deficiency (Orphanet:46)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant nonsyndromic intellectual deficit (Orphanet:178469)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Axenfeld-Rieger syndrome (Orphanet:782)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Baraitser-Winter syndrome (Orphanet:2995)
Bardet-Biedl syndrome 17 (OMIM:615994)
Brachytelephalangy - dysmorphism - Kallmann syndrome (Orphanet:1295)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CHROMOSOME 1p32-p31 DELETION SYNDROME (OMIM:613735)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
CORNELIA DE LANGE SYNDROME 2 (OMIM:300590)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Cornelia de Lange syndrome (Orphanet:199)
Craniolenticulosutural dysplasia (Orphanet:50814)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 1q (Orphanet:36367)
ECTODERMAL DYSPLASIA SYNDROME WITH DISTINCTIVE FACIAL APPEARANCE ANDPREAXIAL POLYDACTYLY OF FEET (OMIM:129540)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
Ectodermal dysplasia - cutaneous syndactyly syndrome (Orphanet:247827)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
FACIOTHORACOGENITAL SYNDROME (OMIM:227320)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3C (OMIM:609384)
Femoral-facial syndrome (Orphanet:1988)
Fine-Lubinsky syndrome (Orphanet:1272)
GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Growth delay due to insulin-like growth factor I resistance (Orphanet:73273)
HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
HISTIDINURIA DUE TO A RENAL TUBULAR DEFECT (OMIM:235830)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypotonia-speech impairment-severe cognitive delay syndrome (Orphanet:371364)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
Ichthyosis - oral and digital anomalies (Orphanet:2272)
Intellectual deficit, Buenos-Aires type (Orphanet:3079)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
LUJAN-FRYNS SYNDROME (OMIM:309520)
Late-onset localized junctional epidermolysis bullosa - intellectual deficit (Orphanet:231556)
Leprechaunism (Orphanet:508)
Lymphedema - atrial septal defects - facial changes (Orphanet:86915)
MENTAL RETARDATION WITH OPTIC ATROPHY, FACIAL DYSMORPHISM, MICROCEPHALY,AND SHORT STATURE (OMIM:609037)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 (OMIM:614562)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 (OMIM:615075)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 (OMIM:616268)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 (OMIM:614202)
MENTAL RETARDATION, MICROCEPHALY, GROWTH RETARDATION, JOINT CONTRACTURES,AND FACIAL DYSMORPHISM (OMIM:606242)
MENTAL RETARDATION, X-LINKED 30 (OMIM:300558)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Methylmalonic acidemia with homocystinuria (Orphanet:26)
Methylmalonic acidemia with homocystinuria, type cblF (Orphanet:79284)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Miller-Dieker syndrome (Orphanet:531)
Monosomy 13q14 (Orphanet:1587)
Monosomy 18q (Orphanet:1600)
Monosomy 9p (Orphanet:261112)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple synostoses syndrome (Orphanet:3237)
Myhre syndrome (Orphanet:2588)
NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Opitz G/BBB syndrome (Orphanet:2745)
Overgrowth - macrocephaly - facial dysmorphism (Orphanet:137634)
PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER (OMIM:616154)
PMM2-CDG (Orphanet:79318)
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Peters-plus syndrome (Orphanet:709)
Pitt-Hopkins-like syndrome 2 (OMIM:614325)
Prader-Willi syndrome (Orphanet:739)
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 (OMIM:616331)
Recombinant 8 syndrome (Orphanet:96167)
Renpenning syndrome (Orphanet:3242)
Roifman syndrome (Orphanet:353298)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM:614376)
Sialuria (Orphanet:3166)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TRICHORHINOPHALANGEAL SYNDROME, TYPE I (OMIM:190350)
TRICHORHINOPHALANGEAL SYNDROME, TYPE III (OMIM:190351)
Tetrasomy 12p (Orphanet:884)
Timothy syndrome (Orphanet:65283)
Trichorhinophalangeal syndrome type 1 and 3 (Orphanet:77258)
VERHEIJ SYNDROME (OMIM:615583)
Wiedemann-Steiner syndrome (Orphanet:319182)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)