Prominent Nasal Root: Causes & Reasons

Possible Causes for Prominent Nasal Root

nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. [orpha.net]

nasal root, hypertelorism, and down- slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. [rareguru.com]

nasal root, precocious skin aging and partial edentulism. [cags.org.ae]

Qazi-Markouizos Syndrome

Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism [malacards.org]

Additional findings included narrow and high-arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. [findzebra.com]

nasal root; Long philtrum Abdomen: Distended abdomen GU: Undescended testes; Eyes; Hypertelorism Limbs: Tapered fingers Radiology: Delayed bone age; Dysharmonic skeletal [findzebra.com]

Warburg Micro Syndrome 3

The patients also present with dysmorphic features, such as beaked nose with a prominent nasal root, large anteverted ears, hypertrichosis, micrognathia, and highly arched [cags.org.ae]

Deep-set eyes, a prominent nasal root, a narrow mouth, elbow contracture, and large anteverted ears are present. [nature.com]

Deep-set eyes, a prominent nasal root, a narrow mouth, a maxillary protrusion, elbow contracture, and large anteverted ears are present. [nature.com]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

nasal root and/or overhanging upper lip. [ncbi.nlm.nih.gov]

Systemic Features: Microcephaly, flexion contractures, prominent nasal root and an overhanging upper lip are common features. [disorders.eyes.arizona.edu]

The disease involves head and neck (microcephaly, micrognathia/retrognathia, upper lip overlaps the lower lip, sloping forehead, long philtrum and prominent nasal root, large [accessanesthesiology.mhmedical.com]

Chudley-Rozdilsky Syndrome

nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding [rareendocrinologynews.com]

[…] ear Prominent ear Prominent ears [ more ] 0000411 5%-29% of people have these symptoms Abnormality of cardiovascular system morphology 0030680 Abnormality of the ribs Rib [rareendocrinologynews.com]

0001376 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Prominent [rareendocrinologynews.com]

Klein-Waardenburg Syndrome

Dystopia canthorum is a prominent and nearly constant (>95%) feature of type 1, and together with the prominent nasal root and increased intercanthal distance may suggest [disorders.eyes.arizona.edu]

nasal root. varying degrees of congenital sensorineural deafness (occurs in one in five patients) neurologic manifestations peripheral neuropathy cerebellar ataxia intellectual [radiopaedia.org]

In 1951, Waardenburg defined 6 main features: (1) dystopia canthorum, (2) prominent broad nasal root, (3) synophrys, (4) white forelock, (5) heterochromia iridis, and (6) [medlink.com]

Microcephalic Osteodysplastic Primordial Dwarfism Type II

nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Proximal [rarediseases.info.nih.gov]

0006297 Hypospadias 0000047 Microtia Small ears Underdeveloped ears [ more ] 0008551 Moyamoya phenomenon 0011834 Postnatal growth retardation Growth delay as children 0008897 Prominent [rarediseases.info.nih.gov]

Ring Chromosome 7

[…] crus of helix 0009899 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal [rarediseases.info.nih.gov]

[…] circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Motor delay 0001270 Narrow mouth Small mouth 0000160 Prominent [rarediseases.info.nih.gov]

Ocular Albinism with Late-Onset Sensorineural Deafness

Although the nasal root was prominent, one affected person had dystopia of the inner canthi or lower puncta. The face in some showed striking freckling of pale skin. [albinismo.it]

Mosaic Trisomy 14

[…] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Prominent [rarediseases.info.nih.gov]

Congenital Deafness with Total Albinism

Although the nasal root was prominent, one affected person had dystopia of the inner canthi or lower puncta. The face in some showed striking freckling of pale skin. [albinismo.it]

Trisomy 9q32

Manifestations such as microcephaly, prominent nasal root, bulbous nose, and down-turned corners of the mouth are common to patients with trisomic segments extending from [semanticscholar.org]

Waardenburg Syndrome Type 4C

[…] more ] 0005214 30%-79% of people have these symptoms Abdominal pain Pain in stomach Stomach pain [ more ] 0002027 Olfactory lobe agenesis Olfactory lobe absence 0001341 Prominent [rarediseases.info.nih.gov]

XFE Progeroid Syndrome

Convex nasal ridge MedGen UID: 66809 •Concept ID: C0240538 • Finding Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. [ncbi.nlm.nih.gov]

The nose appears often also prominent, and the columella low. [ncbi.nlm.nih.gov]

Cerebro-Oculo-Facio-Skeletal Syndrome

Systemic Features: Microcephaly, flexion contractures, prominent nasal root and an overhanging upper lip are common features. [disorders.eyes.arizona.edu]

nasal root and/or overhanging upper lip. [pubmed.ncbi.nlm.nih.gov]

nasal root Overhanging upper lip Genetic Criteria for diagnosis:[5] DNA repair defect in Nucleotide Excision Repair pathway Physical examination Craniofacially, the disorder [eyewiki.org]

Waardenburg Syndrome

• A family had the following manifestations of Waardenburg's syndrome (WS): prominent nasal root, white forelock, premature graying of the hair, freckled pigmentation of pale [jamanetwork.com]

nasal root. varying degrees of congenital sensorineural deafness (occurs in one in five patients) neurologic manifestations peripheral neuropathy cerebellar ataxia intellectual [radiopaedia.org]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 4

nasal root and/or overhanging upper lip. [ncbi.nlm.nih.gov]

Systemic Features: Microcephaly, flexion contractures, prominent nasal root and an overhanging upper lip are common features. [disorders.eyes.arizona.edu]

[…] congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure and facial dysmorphism with prominent [ncbi.nlm.nih.gov]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 2

nasal root and/or overhanging upper lip. [ncbi.nlm.nih.gov]

Systemic Features: Microcephaly, flexion contractures, prominent nasal root and an overhanging upper lip are common features. [disorders.eyes.arizona.edu]

Cerebro-Oculo-Facio-Skeletal Syndrome Type 3

She had small, deep-set eyes, a prominent nasal root and tip, an overhanging upper lip, and mild micrognathia. [atcc.org]

nasal root Overhanging upper lip Genetic Criteria for diagnosis:[5] DNA repair defect in Nucleotide Excision Repair pathway Physical examination Craniofacially, the disorder [eyewiki.org]

SIX2-Related Frontonasal Dysplasia

Craniofrontonasal syndrome (CFNS; MIM 304110) shares clinical features with FND such as hypertelorism, broad nasal tip root, bifid nose, cleft lip and cleft palate. [ctgt.net]

Other prominent features include longitudinal splitting of nails, clinodactyly, abnormal facial proportions, craniosynostosis, low implant of breasts, narrow shoulders, and [ctgt.net]

Warburg-Sjo-Fledelius Syndrome

The patients also present with dysmorphic features, such as beaked nose with a prominent nasal root, large anteverted ears, hypertrichosis, micrognathia, and highly arched [cags.org.ae]

Deep-set eyes, a prominent nasal root, a narrow mouth, elbow contracture, and large anteverted ears are present. [nature.com]

Deep-set eyes, a prominent nasal root, a narrow mouth, a maxillary protrusion, elbow contracture, and large anteverted ears are present. [nature.com]

Syndromic Diarrhea

Infants are born small for gestational age and present with facial dysmorphism including prominent forehead and cheeks, broad nasal root and hypertelorism. [ncbi.nlm.nih.gov]

[…] forehead and cheeks, broad nasal root and hypertelorism; hair abnormalities described as woolly and easily removable; immune disorders resulting from defective antibody production [hal.inserm.fr]

[…] intractable diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring parenteral nutrition; facial dysmorphism characterised by prominent [hal.inserm.fr]

Autosomal Dominant Mental Retardation Type 26

nasal root, pointed nasal tip, short chin (not reminiscent of Down syndrome) IUGR, congenital microcephaly (—2 SD to —5 SD), brain MRI abnormalities (hypomyelination), eye [ncbi.nlm.nih.gov]

[…] speech delay/absent speech, epilepsy, ataxia/ broad-based gait An Angelman-like syndrome with distinct facial features: sparse scalp hair, deep-set eyes, hooded eyelids, prominent [ncbi.nlm.nih.gov]

Blepharo-Naso-Facial Syndrome Type Van Maldergem

root, prominent ears, andA cleft palate suggested the diagnosis of the Eastman-Bixler syndrome. 8 Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial [semanticscholar.org]

American journal of medical genetics 1991 A 5-year-old boy with moderate mental retardation, horseshoe kidneys, tricuspid valve prolapse, and a characteristic face with broad nasal [semanticscholar.org]

Waardenburg Syndrome Type 1

nasal root. varying degrees of congenital sensorineural deafness (occurs in one in five patients) neurologic manifestations peripheral neuropathy cerebellar ataxia intellectual [radiopaedia.org]

It symptoms include hypertelorism or distinctive wide-set eyes as a result of a prominent and broad nasal root or the dystopia canthorum. [medigest.uk]

CAMFAK Syndrome

nasal root Overhanging upper lip Genetic Criteria for diagnosis:[5] DNA repair defect in Nucleotide Excision Repair pathway Physical examination Craniofacially, the disorder [eyewiki.org]

nasal root, short philtrum, and prominent ears [3]. [juniperpublishers.com]

All had severe mental retardation and other findings, such as hypertrichosis, beaked nose with prominent nasal root, short philtrum, and prominent ears. [iamg.in]

Say Barber Miller Syndrome

nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding [pubcasefinder.dbcls.jp]

Convex nasal ridge MedGen UID: 66809 •Concept ID: C0240538 • Finding Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. [ncbi.nlm.nih.gov]

Monosomy 13q

Prominent nasal bridge Protruding nasal bridge, Prominent nasal root, Elevated nasal bridge, Convex bridge of nose, Protruding bridge of nose, High nasal bridge, Convex nasal [rarediseases.oscar.ncsu.edu]

[…] bridge, Prominent bridge of nose [more] Anterior positioning of the nasal root in comparison to the usual positioning for age. [rarediseases.oscar.ncsu.edu]

Eyebrow Duplication - Syndactyly Syndrome

nasal root and medial eyebrows, congenital deafness, heterochromic irides, and hypomelanotic macules. [pediatricsconsultant360.com]

They have a low hairline, a prominent nasal root, and a short philtrum. The tip of the nose appears bulbous. [disorders.eyes.arizona.edu]

[…] sternal plate, low-set, backwards rotated ears, epicanthal folds, thin eyebrows, broad nasal root, prominent nasal tip with flaring nares, long philtrum, small mouth,retractedchin [chr7.org]

Malignant Hyperthermia - Arthrogryposis - Torticollis

[…] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose [rarediseases.info.nih.gov]

Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis Drooping upper eyelid 0000508 Scrotal hypoplasia Smaller than typical growth [rarediseases.info.nih.gov]

[ more ] 0000601 Long palm 0011302 Malignant hyperthermia 0002047 Narrow mouth Small mouth 0000160 Nasal speech Nasal voice 0001611 Pectus excavatum Funnel chest 0000767 Prominence [rarediseases.info.nih.gov]