Long Philtrum: Causes & Reasons

Possible Causes for Long Philtrum

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]

philtrum - Malignant hyperthermia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis Frequent - High vaulted / narrow palate - Intellectual [csbg.cnb.csic.es]

[…] 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]

Freeman-Sheldon Syndrome

The clinical spectrum includes cranio-facial: long philtrum mouth puckering microstomia H-shaped chin dimple orbital features hypotelorism 8 : drooping of the upper eyelids [radiopaedia.org]

The clinical spectrum includes cranio-facial: long philtrum mouth puckering microstomia H-shaped chin dimple orbital features hypotelorism 8: drooping of the upper eyelids [radiopaedia.org]

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

Baraitser-Winter Syndrome

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

Show allHide all Abnormality of head or neck Anteverted nares Cleft upper lip Epicanthal fold Highly arched eyebrow Long palpebral fissure Long philtrum Low posterior hairline [ncbi.nlm.nih.gov]

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]

Sanjad-Sakati Syndrome

Figure 2: Lateral image showing large floppy ears, micrognathia, long philtrum, and deep set eyes Click here to view Figure 3: Computed tomography of the brain - bilateral [ijcpjournal.org]

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

On examination, the patient had facial dysmorphism in the form of microcephaly, deep set eyes, beaked nose, low set large floppy ears, high arched palate, long philtrum, thin [ijcpjournal.org]

Wiedemann-Steiner Syndrome

[…] eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Deep set ears Small ear canals Upper vermillion border, thin High-arched palate Long philtrum [databases.lovd.nl]

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]

Common facial features are hypertelorism, wide nasal bridge, long philtrum, thick eyebrows, synophrys, and long eyelashes. [karger.com]

3M Syndrome

The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short [ncbi.nlm.nih.gov]

philtrum, fleshy tipped nose, midface hypoplasia and frontal bossing. [3msyndrome.wordpress.com]

[…] results in significant short stature with a typical adult height of 130cm. 3M syndrome is also associated with distinctive facial dysphorphism; triangular face, pointed chin, long [3msyndrome.wordpress.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]

[…] clavicles ; Long philtrum ; Malar flattening ; Mesomelic arm shortening ; Microtia ; Midface retrusion ; Phocomelia ; Radioulnar synostosis ; Short 2nd metacarpal ; Short [mousephenotype.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]

[…] late-closing anterior fontanel (>3 cm at birth), straight eyebrows, deep-set eyes, broad and depressed nasal bridge, midface retrusion, posteriorly rotated, low-set, abnormal ears, long [orpha.net]

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]

philtrum micrognathia large ears hoarse-low pitched voice hypertonia of muscles mild developmental delay Associations thin-deep-set nails talipes equinovarus widened distal [radiopaedia.org]

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

Hypertrichotic Osteochondrodysplasia

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

philtrum. [genome.jp]

[…] and large philtrum, prominent mouth with full lips and macroglossia. [orpha.net]

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]

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

She is missing, however, some typical facial features, like a long philtrum and thin upper lip (Table 1 ). [ncbi.nlm.nih.gov]

Cerebro-Costo-Mandibular Syndrome

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

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

Figure 1: Showing short forehead, flat bridge of nose, left eye convergent squint, long philtrum, micrognathia, short neck. [fortuneonline.org]

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]

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]

Pallister-Killian Syndrome

Her mouth was broad, and the philtrum was long, continuing into the vermillion border of the upper lip (sometimes referred as Pallister lip). [karger.com]

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]

[…] features described in PKS: frontotemporal alopecia, hypertelorism, anteverted nostrils, long philtrum with “Pallister lip”, hypopigmented streaks. a : frontal view; b : lateral [molecularcytogenetics.biomedcentral.com]

Williams-Beuren Syndrome

[…] 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]

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]

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]

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]

Omodysplasia Type 2

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

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]

Chromosome 6q11-q14 Deletion Syndrome

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

[from OMIM] Show allHide all Abnormality of head or neck Broad nasal tip Epicanthal fold High palate Long philtrum Short neck Short nose Thin upper lip vermilion Upslanted [ncbi.nlm.nih.gov]

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]

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]

philtrum), developmental delay, digital abnormalities, genital abnormalities, and loose connective tissue (manifestation: joint laxity, inguinal hernia). [link.springer.com]

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]

Hajdu-Cheney Syndrome

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 [accesspediatrics.mhmedical.com]

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]

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]

philtrum, low-set and posteriorly rotated ears, and short neck). [malacards.org]

Autosomal Recessive Cutis Laxa Type 2A

philtrum, drooping facial skin). [findexpertmd.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]

[…] and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long [findexpertmd.com]

14q11-q22 Microdeletion Syndrome

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

Clinical description All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's [orpha.net]

[from ORDO] Show allHide all Abnormality of head or neck Blepharophimosis Depressed nasal bridge Epicanthal fold High palate Long philtrum Narrow mouth Short nose Short palpebral [ncbi.nlm.nih.gov]

3M Syndrome Type 2

philtrum (7/7) and full lips (4/7). [pubmed.ncbi.nlm.nih.gov]

Relatively large head, dolichocephaly, triangular face, midface retrusion, thick eyebrows, fleshy nasal tip, long philtrum, full lips, and pointed chin. [ncbi.nlm.nih.gov]

philtrum, prominent mouth and lips, and pointed chin. [nature.com]

Microphthalmia Type Lenz

[…] narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septals, and skeletal anomalies. [semanticscholar.org]

Medicine American journal of medical genetics 1999 The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long [semanticscholar.org]

Sheldon-Hall Syndrome

Note the pointed chin, long philtrum, prominent nasolabial folds, downslanted palpebral fissures, attached ear lobes. [pubmed.ncbi.nlm.nih.gov]

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]