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]
[…] lips with a long philtrum.[en.wikipedia.org]
[…] narrow face Deep-set, small eyes Beaked nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum. 9 Reply[dailyrounds.org]
Crisponi Syndrome
philtrum).[ncbi.nlm.nih.gov]
[…] 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]
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]
Tel Hashomer Camptodactyly Syndrome
Clinical description Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth.[orpha.net]
Additional features may include spina bifida at C1, hypertelorism, long philtrum, and underdevelopment of the thenar and hypothenar eminences.[accessanesthesiology.mhmedical.com]
philtrum 0000343 Mitral valve prolapse 0001634 Skeletal dysplasia 0002652 Small hypothenar eminence 0010487 Small thenar eminence 0001245 Spina bifida 0002414 Talipes equinovarus[rarediseases.info.nih.gov]
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]
Children born with the rare congenital condition Freeman-Sheldon syndrome (FSS) have a characteristic facial appearance: microstomia, a long philtrum, 'H-shaped' chin abnormality[ncbi.nlm.nih.gov]
philtrum, high-arched palate, scoliosis, bilateral post-axial polydactyly of the feet and pes varus.[ncbi.nlm.nih.gov]
Three M 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]
Femoral Hypoplasia
The most common features include hypoplasia of the femora and a characteristic facies with a short nose, long philtrum, thin upper lip and micrognathia.[ncbi.nlm.nih.gov]
Two had the characteristic facial pattern of upslanted palpebral fissures, long philtrum with thin upper lip, micrognathia, and hypoplastic alae nasi.[ncbi.nlm.nih.gov]
Femoral hypoplasia/unusual facies syndrome Relevant markers: Absent femur Absent kidney Bowed femur Fractured femur Hypoplastic femur/s Long philtrum Low set ear/s Mandibular[phenotip.com]
Qazi-Markouizos Syndrome
philtrum Microdontia Delayed and Dysharmonic Skeletal Maturation increased size Disproportionate Muscle Fibres .[qa.virinchihospitals.com]
philtrum, mouth held open, high-arched and narrow palate, microdontia), delayed bone age with abnormal ossification, pectus excavatum, seizures, and mental retardation.[accessanesthesiology.mhmedical.com]
Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[doi.org]
Cornelia De Lange Syndrome
There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism.[ncbi.nlm.nih.gov]
We experienced a case of newborn with CdLS showing bushy eyebrows and synophrys, long curly eyelashes, long philtrum, downturned angles of the mouth and thin upper lips, cleft[ncbi.nlm.nih.gov]
[…] nose with anteverted nortrils thin lips with long philtrum microbrachycephaly, microcephaly or brachycephaly upper limb malformations short 1 st metacarpal oligodactyly acheiria[radiopaedia.org]
Frontonasal Dysplasia
philtrum.[ncbi.nlm.nih.gov]
philtrum with prominent bilateral swellings, and midline notch in the upper lip and alveolus.[rdm.ox.ac.uk]
[…] features were severe hypertelorism, downward slanted palpebral fissures, bilateral epicanthal folds, a grossly deformed nose with notched alae nasi, absent nasal tip and long[ncbi.nlm.nih.gov]
Aarskog Syndrome
The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov]
philtrum widow's peak hair anomaly ear anomalies dental anomalies (missing teeth, delayed eruption, enamel hypoplasia) ocular ophthalmic anomalies 2 optic nerve hypoplasia[radiopaedia.org]
[…] manifestations of this syndrome include short stature decreased bone age craniofacial anomalies hypertelorism broad forehead broad nasal bridge short nose with anteverted nostrils long[radiopaedia.org]