Long Philtrum: Causes & Reasons

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Possible Causes for Long Philtrum

Cold-Induced Sweating Syndrome Type 1

All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum, and bilateral camptodactyly [orpha.net]

[…] includes the 21 symptoms listed below: * Excessive muscle contractions * Increased muscle tone in neck * Large face * Chubby cheeks * Broad nose * Anteverted nostrils * Long [checkorphan.org]

FACE : Rounded, chubby with long philtrum, broad nose and anteverted nostrils, increased salivation, frequent startling, with recurrent marked facial muscles contractions [go.gale.com]

Freeman-Sheldon Syndrome

Other dysmorphic features include deep set eyes, broad nasal bridge, long philtrum and 'H' shaped cutaneous dimple on the chin. [ncbi.nlm.nih.gov]

The facies looks immobile with a flat midface, long philtrum, and puckered mouth with whistling shape to lips. [accessanesthesiology.mhmedical.com]

philtrum, small pinched nose and pursed mouth. [ncbi.nlm.nih.gov]

Baraitser-Winter Syndrome

[…] palpebral fissure Long philtrum Low posterior hairline Microcephaly ... ... [familydiagnosis.com]

In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally [bioportfolio.com]

Common facial features include hypoplasia, coloboma of the retina or iris, hypertelorism, ptosis, high-arched brows, broad nasal bridge, long philtrum and pointed chin. [invitae.com]

Sanjad-Sakati Syndrome

[…] narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. [orpha.net]

[…] restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long [orpha.net]

Wiedemann-Steiner Syndrome

[…] eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate [orpha.net]

We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper [ncbi.nlm.nih.gov]

Our patient had a bulbous nose, a wide and depressed nasal bridge, thick eyebrows and hair, long philtrum, low hairline, downturned corners of the mouth (Fig. 1B and C) and [journals.lww.com]

Facioauriculoradial Dysplasia

philtrum midface hypoplasia Chest Ribs Sternum Clavicles And Scapulae: long clavicles hook-shaped clavicle Neurologic Central Nervous System: normal intelligence Skeletal [malacards.org]

The daughter had similar facial features and a long philtrum. [omim.org]

philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343 4 abnormal nasal morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0005105 5 conductive hearing impairment [malacards.org]

Monosomy 1p36 Syndrome

[…] deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deeply set eyes, midface retrusion, wide and depressed nasal bridge, long [ncbi.nlm.nih.gov]

philtrum, and pointed chin. [genome.jp]

All patients had straight eyebrows, deep-set eyes, midface hypoplasia, broad nasal root/bridge, long philtrum, and pointed chin. [pediatrics.aappublications.org]

Weaver Syndrome

In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia [ncbi.nlm.nih.gov]

[…] increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead hypertelorism long [radiopaedia.org]

Craniofacial anomalies consist of a broad forehead, flat occiput, large ears, hypertelorism, long philtrum, and relative micrognathia. [sites.google.com]

Hypertrichotic Osteochondrodysplasia

philtrum Low anterior hairline Low posterior hairline Macrocephaly Prominent forehead ... ... [familydiagnosis.com]

philtrum. [genome.jp]

[…] eyelashes Increased length of eyelashes Unusually long eyelashes [ more ] 0000527 Long philtrum 0000343 Low anterior hairline Low frontal hairline Low-set frontal hairline [rarediseases.info.nih.gov]

Roifman Syndrome

philtrum with thin upper lip, narrow, tubular and upturned nose with hypoplastic alae nasi, widely spaced eyes with long palpebral fissures, prominent lashes, ... [databases.lovd.nl]

[…] palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip. [ncbi.nlm.nih.gov]

[…] alae nasi, long philtrum and thin upper lip, are also associated. [pubcasefinder.dbcls.jp]

Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and [jhu.pure.elsevier.com]

Dysmorphic features included brachycephaly, high forehead with bitemporal narrowing, depressed nasal bridge, long philtrum with a deep groove, and open mouth due to hypotonia [bio2rdf.org]

Clinical examination showed a high anterior hairline, mildly upslanted palpebral fissures, a thin vermillion, a long philtrum, alveolar ridge overgrowth, absence of teeth [databases.lovd.nl]

Cerebro-Costo-Mandibular Syndrome

New manifestations not previously described include microstomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. [ncbi.nlm.nih.gov]

New manifestations not previously described include mi- crostomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. [docslide.com.br]

Acid reflux Acid reflux disease Heartburn [ more ] 0002020 High palate Elevated palate Increased palatal height [ more ] 0000218 Horseshoe kidney Horseshoe kidneys 0000085 Long [rarediseases.info.nih.gov]

Spondyloepiphyseal Dysplasia Type Cantú

philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease of fifth [malacards.org]

philtrum 0000343 Low posterior hairline Low hairline at back of neck 0002162 Microtia Small ears Underdeveloped ears [ more ] 0008551 Multiple rows of eyelashes Extra rows [rarediseases.info.nih.gov]

Other: growth retardation, progressive Voice: high-pitched, coarse voice Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum thickened clavicles Head And Neck Face: long [malacards.org]

Williams-Beuren Syndrome

A combination of specific facial characteristics including a stellate pattern in the iris, long philtrum and puffiness around the eyes; cardiovascular disease - especially [web.archive.org]

[…] genetic disorder characterized especially by hypercalcemia of infants, heart defects (as supravalvular aortic stenosis), characteristic facial features (as an upturned nose, long [merriam-webster.com]

philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and mild to moderate intellectual disability but a high verbal aptitude Comments on Williams syndrome [merriam-webster.com]

Pallister-Killian Syndrome

Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly [ncbi.nlm.nih.gov]

philtrum acral hypoplasia Other anomalies include: anteverted nostrils small and apparently low-set ears simian crease clinodactyly congenital heart disease: may be seen [radiopaedia.org]

philtrum, short neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation. [symptoma.com]

Arterial Tortuosity Syndrome

His facial features were characteristic (D), with elongated face, hypertelorism, and a long philtrum. [onlinejacc.org]

philtrum 0000343 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Pectus carinatum Pigeon chest 0000768 Pectus excavatum Funnel chest 0000767 Soft [rarediseases.info.nih.gov]

Elevated palate Increased palatal height [ more ] 0000218 Ischemic stroke 0002140 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Long [rarediseases.info.nih.gov]

3M Syndrome

(a) Triangle-shaped face with frontal bumps, hypoplastic midface, provided eyebrows, an upturned nose with a fleshy tip, long philtrum, full lips and a pointed chin; (b) Frontal [indianpediatrics.net]

[…] eyelashes, a small fleshy nose with anteverted nares and a long philtrum. [endocrine-abstracts.org]

Classical clinical features of 3-M syndrome include a triangular face with a pointed chin, a long philtrum and full lips. [edm.bioscientifica.com]

Autosomal Recessive Cutis Laxa Type 2A

The characteristic features for ARCL2A are abnormal isoelectric focusing and facial features, including downslanting palpebral fissures and a long philtrum. [mdpi.com]

0001511 Joint hypermobility Double-Jointed Flexible joints Increased mobility of joints [ more ] 0001382 Lipodystrophy Inability to make and keep healthy fat tissue 0009125 Long [rarediseases.info.nih.gov]

philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar flattening Zygomatic flattening 0000272 Microcephaly Abnormally small skull Decreased circumference [rarediseases.info.nih.gov]

14q11-q22 Microdeletion Syndrome

[…] dominant (Long philtrum) Aarskog syndrome (Long philtrum) Aarskog-Scott syndrome (Long philtrum) ... ... [familydiagnosis.com]

philtrum Kyphosis Midface retrusion Proptosis Downturned corners of mouth Dental malocclusion Broad thumb Gingival overgrowth Cranial asymmetry Long eyelashes Patent foramen [mendelian.co]

Deformations of the head include sparse scalp hair, bulbous tip of the nose, long ﬂat philtrum (upper lip), thin upper vermilion border and protruding ears. [nipt.ng]

15q24 Deletion Syndrome

broad medial eyebrows that taper laterally, hypertelorism, long palpebral fissures, high nasal bridge, broad nasal base with flared alae nasi, long philtrum, full lower [academic.oup.com]

long philtrum facial asymmetry long face microretrognathia Head And Neck Mouth: open mouth small mouth high arched palate full lower lip Head And Neck Ears: large ears cupped [malacards.org]

[…] smooth philtrum, and full lower lip. [genome.jp]

Microcephaly - Chorioretinopathy - Lymphedema - Mental Retardation

philtrum with thin upper lip, prominent chin, and prominent ears. [malacards.org]

Note prominent ears, upslanting palpebral fissures, a broad nose, anteverted nares, long philtrum, thin upper lip, micro-retrognathia, a pointed chin, and slender and long [karger.com]

philtrum 0000343 Lymphedema Swelling caused by excess lymph fluid under skin 0001004 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size [rarediseases.info.nih.gov]

Sheldon-Hall Syndrome

philtrum 0000343 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more [rarediseases.info.nih.gov]

[…] finger Permanent flexion of the finger 0100490 Distal arthrogryposis 0005684 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Long [rarediseases.info.nih.gov]

Monosomy 9p

philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism [orpha.net]

Clinical examination showed a moon shaped face, flat occi-put, epicanthus, low nasal bridge, but also trigonocephaly, long philtrum, widely spaced nipples, dolichomesophalangy [publications.fondationlejeune.org]

philtrum (Alfi et al. 1973 Alfi O Donnell GN Crandall BF Derencsenyi A Menon R Deletion of the short arm of chromosome 9 (46, 9p−): a new deletion syndrome. ; Huret et al [cell.com]

Verheij Syndrome

Long philtrum that can help you solving undiagnosed cases. [mendelian.co]

[from ORDO] Show allHide all Abnormality of head or neck Long philtrum Microcephaly Narrow forehead Short neck Short nose Thin upper lip vermilion Wide nasal bridge Abnormality [ncbi.nlm.nih.gov]

Symptoms of Verheij syndrome Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Congenital ocular coloboma Long philtrum Microcephaly [familydiagnosis.com]

Autosomal Recessive Cutis Laxa Type 1C

Long philtrum MedGen UID: 351278 •Concept ID: C1865014 • Finding Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. [ncbi.nlm.nih.gov]

Omodysplasia Type 1

Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small [malacards.org]

Typical facies include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum and small chin. [medical-dictionary.thefreedictionary.com]

Dysmorphic features were frontal bossing, round face, long philtrum and flat nasal bridge. [fdna.health]

Chromosome 6q11-q14 Deletion Syndrome

philtrum Short nose Thin upper lip vermilion Upslanted palpebral fissure ... ... [familydiagnosis.com]

Philtrum Anteverted Nares Thorax Short Sternum Skin Hyperextensible Skin Cardiovascular System Patent Ductus Arteriosus And Ventricular Septal Defect Neck Short Neck And [neo-genetics.com]

philtrum, and earlobes turned inwards. [1] [2] Congenital heart disease is associated with 13q deletion syndrome. [en.wikipedia.org]

Hajdu-Cheney Syndrome

philtrum, flat nasal bridge, coarse hair, low set ears and a low hairline It is associated with osteoporosis, bony deformities and acro-osteolysis. [radiopaedia.org]

[…] loss (conductive or sensorineural) frontal and occipital headaches (due to basilar invagination ) craniofacial features: frontal bossing, widely spaced eyes, micrognathia, long [radiopaedia.org]

At birth, many of these patients look normal or only show mild and unspecific dysmorphic signs, such as downslanted palpebral fissures, flat and broad nasal bridge, long philtrum [accessanesthesiology.mhmedical.com]

Nicolaides-Baraitser Syndrome

philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more [rarediseases.info.nih.gov]

Williams syndrome (WS) is characterized by typical facial features (long philtrum, thick vermilion of the upper and lower lips, and full cheeks), supravalvar aortic stenosis [ncbi.nlm.nih.gov]

Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint dislocation Joint dislocations Recurrent joint dislocations [ more ] 0001373 Long [rarediseases.info.nih.gov]

Geleophysic Dysplasia Type 2

Symptoms of Geleophysic dysplasia type 2 Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Hypertelorism Long philtrum Short nose [familydiagnosis.com]

Aortic valve stenosis ; Autosomal dominant inheritance ; Cone-shaped epiphysis ; Delayed skeletal maturation ; Full cheeks ; Hepatomegaly ; Hypertelorism ; Joint stiffness ; Long [mousephenotype.org]

philtrum - Metacarpal anomalies / Archibald's sign - Philtrum flat / large / featureless / absent cupidon bows - Restricted joint mobility / joint stiffness / ankylosis - [csbg.cnb.csic.es]