root (broad/high or other), smooth upper vermillion border, thin upper lip vermillion, retrognathia.
[gene.sfari.org]
root, thin upper lip, and high palate.
[malacards.org]
Abstract We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root, and
[doi.org]
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]
It consists of a white forelock, vitiligo, partial or total heterochromic irides, hyperplastic broad high nasal root, lateral displacement of the medial canthi and lacrimal
[whonamedit.com]
The minor criteria are congenital vitiligo, synophrys, broad high nasal root, hypoplasia of alae nasi, and premature graying of hair.
[healio.com]
nasal root, overbite, high narrow palate, retrognathia, irregular dental implantation, clinodactyly on the 5th finger Leyser (2016) [21] 4 M -/- G-banding del(12)p13.2 -
[mdpi.com]
G-banding, CMA, FISH del(12)p13.33-13.32 4.2 Mb ID, borderline microcephaly, small face, small downslanting palpebral fissures, protruding ears and overfolded ear helices, high
[mdpi.com]
Minor criteria include congenital leukoderma, synophrys/medial eyebrow flare, broad/high nasal root with prominent columella and hypoplastic alae nasi.
[orpha.net]
nasal root Hypoplasia of alae nasi Prematurely greying hair (predominately white by age 30 years) In 1995, Liu, Newton and Read 5 used the same list to define WS2.
[onlinelibrary.wiley.com]
Minor criteria include skin hypopigmentation (congenital leukoderma); synophrys/medial eyebrow flare; broad high nasal root, prominent columella; hypoplastic nasal alae; premature
[kjophthal.com]
Minor Criteria: Skin hypopigmentation (congenital leukoderma), synophrys/medial eyebrow flare, broad/high nasal root, prominent columella, hypoplastic alae nasi, premature
[preventiongenetics.com]
[…] bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Synophrys
[rarediseases.info.nih.gov]
An X-linked recessive mental retardation syndrome (OMIM:309520) characterised by tall stature, hypernasal voice, hyperextensible digits and high nasal root.
[medical-dictionary.thefreedictionary.com]
Definition Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal root
[uniprot.org]
Affected individuals also have a long, thin face with distinctive facial features such as a prominent top of the nose (high nasal root); a short space between the nose and
[medlineplus.gov]
Ear anomalies, micrognathia, and broad nasal root were very common. Cleft lip or palate was reported in 3/11 (27%) whereas high-arched palate was frequent 9/11 (82%).
[link.springer.com]
[…] depressed nasal tip, thin upper lip, down lip corners, micrognathia, high forehead. f P14.
[link.springer.com]
Long palpebral fissure, palpebral eversion, epicanthus, thinning of lateral third of eyebrow, malformed and prominent ear, broad nasal root, thin lips, micrognathia. c P9.
[link.springer.com]
[…] bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Short neck
[rarediseases.info.nih.gov]
Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Prominent nasal
[rarediseases.info.nih.gov]
The minor criteria are congenital vitiligo, synophrys, broad high nasal root, hypoplasia of alae nasi, and premature graying of hair.
[healio.com]
nasal root 52-100% 0-14% medial eyebrow flare 63-70% 7% Type I variable phenotype sesorineural hearing loss congenital, non-progressive, uni- or bilateral most common type
[en.wikibooks.org]
nasal root, and dystopia canthorum (increase in the distance between the inner canthi with normal inter-pupillary distance) [1].
[escholarship.org]
[…] bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Synophrys
[rarediseases.info.nih.gov]
Upon a physical examination, the patient had blue homochromatic irises with a normal visual response, coarse hair texture, pallor of nails, and a slightly broad high nasal
[cureus.com]
The patients had moderate intellectual disability, a high forehead, a broad nasal root, downslanting palpebral fissures, epicanthal folds, retrognathia, hypertelorism, wrinkled
[unboundmedicine.com]
Minor Criteria: Skin hypopigmentation (congenital leukoderma), synophrys/medial eyebrow flare, broad/high nasal root, prominent columella, hypoplastic alae nasi, premature
[preventiongenetics.com]
Minor Criteria : Skin hypopigmentation (congenital leukoderma), synophrys/medial eyebrow flare, broad/high nasal root, prominent columella, hypoplastic alae nasi, premature
[preventiongenetics.com]
Other features include high and broad nasal root and also nasi hypoplasia. A squared jaw is reported in some patients.
[owlapps.net]
The minor criteria are congenital vitiligo, synophrys, broad high nasal root, hypoplasia of alae nasi, and premature graying of hair.
[healio.com]
nasal root 52-100% 0-14% medial eyebrow flare 63-70% 7% Type I variable phenotype sesorineural hearing loss congenital, non-progressive, uni- or bilateral most common type
[en.wikibooks.org]
nasal root, prominent columella Hypoplastic alae nasi Premature gray hair (age Type I Waardenburg syndrome is characterized by evidence of dystopia canthorum and the full
[centogene.com]
nasal root as seen in [Figure 1] and [Figure 2].
[e-fjs.org]
Keywords: Blue eyes, broad high nasal root, Hirschsprung's disease, Shah-Waardenburg syndrome, total colonic aganglionosis, white forelock How to cite this article: Gupta
[e-fjs.org]
nasal root High narrow palate Dental crowding Maxillary hypoplasia Micrognathia/retrognathia Open mouth Frontal hair upsweep Small ears HandLong hyperextensible digits Broad
[docslide.com.br]
Disease description Clinically, Lujan-Fryns syndrome can be distinguished from Opitz-Kaveggia syndrome by tall stature, hypernasal voice, hyperextensible digits and high nasal
[uniprot.org]
nasal root; high, narrow palate; and short philtrum) (Lujan.
[preventiongenetics.com]
[…] is further characterized by a Marfan-like appearance, which include a marfanoid habitus (large head; tall, thin body habitus) and craniofacial changes (long, thin face; high
[preventiongenetics.com]
[…] bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290
[rarediseases.info.nih.gov]
High forehead 0000348 Hypospadias 0000047 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249
[rarediseases.info.nih.gov]
Delayed puberty Delayed pubertal development Delayed pubertal growth Pubertal delay [ more ] 0000823 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal
[rarediseases.info.nih.gov]
[…] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.
[orpha.net]
[…] forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down- slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly.
[rareguru.com]
[…] bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Prominent
[rarediseases.info.nih.gov]
No other associated abnormalities (such as hair or skin hypopigmentation, medial eyebrow flare, broad and high nasal root, hypoplasia of alae nasi, or premature greying of
[bjo.bmj.com]
nasal root Hypoplastic alae nasi Premature grey hair (before age 30 years) WS is associated with neural crest-derived melanocyte deficiency caused by mutations in transcription
[neoreviews.aappublications.org]
Type I WS includes the following primary features: Lateral displacement of the medial canthi and lacrimal puncta (100%) Hyperplastic high nasal root (75%) Hyperplasia of the
[emedicine.medscape.com]
[…] calculate the W index in mm are: inner canthal distance (a), interpupillary distance (b), and outer canthal distance (c) Minor Criteria Skin hypopigmentation Synophyrys Broad/high
[neoreviews.aappublications.org]
nasal root.[6] The facial features are characteristic and include: Deep set eyes Strabismus Myopia Marked nasal root Broad and/or beaked nasal bridge Prominent Cupid's bow
[en.wikipedia.org]
[…] bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Drooling Dribbling 0002307 Dysphagia Poor swallowing Swallowing difficulties
[rarediseases.info.nih.gov]
[…] models to test therapies for Pitt–Hopkins.[4] Signs and symptoms[edit] PTHS can be seen as early as childhood.[5] The earliest signs in infants is the lower face and the high
[en.wikipedia.org]
nasal root. [5] The facial features are characteristic and include: Deep set eyes Strabismus Myopia Marked nasal root Broad and/or beaked nasal bridge Prominent Cupid's bow
[en.wikipedia.org]
[…] models to test therapies for Pitt Hopkins. [3] Signs and symptoms [ edit ] PTHS can be seen as early as childhood. [4] The earliest signs in infants is the lower face and the high
[en.wikipedia.org]
The general manifestations included hearing loss (1/5), broad high nasal root (2/5) and hypoplasia of alae nasi (2/5).
[spandidos-publications.com]
As listed in Table II, the general manifestations included hearing loss (1/5), broad high nasal root (1/5) and hypoplasia of alae nasi (1/5).
[spandidos-publications.com]
The clinical characteristics of the syndrome include lateral displacement of the eye's medial canthi, a hyperplastic broad high nasal root, hyperplasia of the medial portions
[spandidos-publications.com]
nasal root, problems of food and short umbilical cord.
[medicaldb.blogspot.com]
Other features include akineziei fetal intrauterine growth retardation, pulmonary hypoplasia and craniofacial anomalies such as hypertelorism, cleft palate, depressed nose, high
[medicaldb.blogspot.com]
The physical examination showed some peculiar facial dysmorphisms, including microphthalmia, high nasal root and micrognathia.
[bmcmedgenomics.biomedcentral.com]
nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of
[ncbi.nlm.nih.gov]
root, complete absence of the left upper lid, and abnormal hair-line implantation in the corresponding frontal region, high arched palate, neurosensorial deafness and agenesia
[ncbi.nlm.nih.gov]
[…] tip, broad nasal root, abnormal frontal hair implantation, high arched palate, neurosensorial deafness, complete coloboma of the upper left lid, and agenesia of the right
[healio.com]
nasal root, problems of food and short umbilical cord.
[medicaldb.blogspot.com]
Other features include akineziei fetal intrauterine growth retardation, pulmonary hypoplasia and craniofacial anomalies such as hypertelorism, cleft palate, depressed nose, high
[medicaldb.blogspot.com]
[…] bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding
[rarediseases.info.nih.gov]
Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Prominent nasal
[rarediseases.info.nih.gov]
The minor criteria include congenital leucoderma, synophrys or medial eyebrow flare, broad, high nasal root, hypoplasia of the alae nasi, and premature graying of hair.
[indianjotol.org]
