narrow palpebral fissures (1 patient) Cardiovascular Heart: ventricular septal defect (1 patient) atrial septal defect (1 patient) patent foramen ovale (1 patient) Genitourinary
[malacards.org]
fissures Widely spaced eyes Fullness of the upper eyelids Small, simple ears (≤10th percentile) Open mouth Long narrow face Broad thumbs and halluces Congenital anomaly
[0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk]
Abnormalities: hyperbilirubinemia abnormal liver function tests Head And Neck Eyes: pigmentary retinopathy stippled pigmentation (cat's paw) choroidoretinal degeneration (1 patient) long
[malacards.org]
Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears
[humpath.com]
RAPADILINO SYNDROME Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate Statements Identifiers Sitelinks Wikipedia
[wikidata.org]
[from MedlinePlus Genetics] Show allHide all Abnormality of head or neck Blepharophimosis Cleft palate High palate High, narrow palate Long face Narrow palpebral fissure Short
[ncbi.nlm.nih.gov]
[…] eyelashes Long palpebral fissures Palpebral fissures, downslanting Palpebral fissures, vertically narrow Hypertelorism Epicanthus Ectropion of lateral third of lower eyelid
[databases.lovd.nl]
The common facial features include thick eyebrows, long eyelashes, downslanting, and narrow palpebral fissures, wide nasal bridge, and broad nasal tip.
[ncbi.nlm.nih.gov]
[…] eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate
[mendelian.co]
Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous
[malacards.org]
[…] corners of eyes that slant up (upslanting palpebral fissures); • Long bulbous nose with a low-hanging separation between the nostrils (overhanging columella); • Shortened
[secure.ssa.gov]
The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum.
[malacards.org]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
palpebral fissures tend to become horizontal, and premature grey hair appears.
[orpha.net]
With increasing age, the following features develop: hypotonia changes to hypertonia, face becomes long and narrow and supraorbital arch prominent, dental malocclusions arise
[orpha.net]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
fissures Long, narrow face (especially with bitemporal narrowing) Developmental Delay: Early developmental delay and learning disability Mild to severe intellectual retardation
[krebs-praedisposition.de]
He had high forehead, long narrow face, down slanted palpebral fissure, large ears, right eye strabismus, and left eye estropia. Fortunately, he had no hearing deficits.
[journals.lww.com]
Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures.
[malacards.org]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Downturned corners of mouth Full cheeks High palate High, narrow palate Long palpebral fissure
[ncbi.nlm.nih.gov]
narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia
[orpha.net]
[…] characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long
[orpha.net]
Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability
[orpha.net]
He had high forehead, long narrow face, down slanted palpebral fissure, large ears, right eye strabismus, and left eye estropia. Fortunately, he had no hearing deficits.
[journals.lww.com]
Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
[medlineplus.gov]
fissures, malar flushing, long and narrow face, small pointed chin with unusual macrocephaly.[4,5] Their milestones are usually delayed with associated intellectual impairment
[journals.lww.com]
[…] face, arched eyebrows with mild synophrys, downslanting palpebral fissures, prominent columella, small alae nasi, high, narrow palate and relatively little facial expression
[hal.inria.fr]
[…] hypotonia with feeding difficulties in infancy, significant motor delay, profound speech impairment, intellectual disability and a characteristic craniofacial phenotype (long
[hal.inria.fr]
[…] antimongoloid palpebral fissures; large, malformed, low-set ears; micrognathy; long philtrum; short neck; cardiopathy; profound encephalopathy with lack of suck and swallow
[link.springer.com]
He had facial asymmetry, strabismus involving the left eye, narrow down-slanting palpebral fissures, prominent nose, overhanging columella, long philtrum, small pointed chin
[pediatricneurosciences.com]
Similar to seven other published cases, the facial dysmorphism was characteristic: prominent nose, narrow palpebral fissures, slight anti-mongoloïd slant, low-set ears, long
[link.springer.com]
[…] face with narrow palpebral fissures, long slender nose, arched palate, see RAPADILINO syndrome absent vasa, see Congenital bilateral absence of the vas deferens AC deficiency
[ghr.nlm.nih.gov]
[…] congenita absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation, see Genitopatellar syndrome absent thumbs, dislocated joints, long
[ghr.nlm.nih.gov]
Affected individuals may also have distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, palpebral fissures downward sloping, high, narrow
[ivami.com]
Characteristic facial findings include craniosynostosis, long narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, low-set ears and high palate.
[preventiongenetics.com]
He had facial asymmetry, strabismus involving the left eye, narrow down-slanting palpebral fissures, prominent nose, overhanging columella, long philtrum, small pointed chin
[pediatricneurosciences.com]
(a) Facial asymmetry, strabismus involving the left eye, narrow down-slanting palpebral fissures, prominent nose, overhanging columella, long philtrum, small pointed chin,
[ncbi.nlm.nih.gov]
Similar to seven other published cases, the facial dysmorphism was characteristic: prominent nose, narrow palpebral fissures, slight anti-mongoloïd slant, low-set ears, long
[link.springer.com]
[…] 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]
fissures Downturned corners of mouth Long palpebral fissure Long philtrum Narrow nose Thin upper lip vermilion Underdeveloped nasal alae Abnormality of limbs Brachydactyly
[ncbi.nlm.nih.gov]
Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic
[pubcasefinder.dbcls.jp]
Abnormality of head or neck Abnormal facial shape Bulbous nose Downslanted palpebral fissures Downturned corners of mouth Long palpebral fissure Low posterior hairline Narrow
[ncbi.nlm.nih.gov]
Previously reported facial dysmorphisms included brachycephaly, coarse face, hypertelorism, high-set/broad/thick eyebrows, large blue irises, long narrow palpebral fissures
[frontiersin.org]
eversion of the lower lids, long eyelashes, epicanthal folds, low-set/posteriorly-rotated ears, mid-face hypoplasia, full cheek, depressed/broad nasal bridge, short nose
[frontiersin.org]
[…] bone 0003016 Narrow palpebral fissure Small opening between the eyelids 0045025
[rarediseases.info.nih.gov]
] 0000369 Lumbar hyperlordosis Excessive inward curvature of lower spine 0002938 Malar flattening Zygomatic flattening 0000272 Metaphyseal widening Broad wide portion of long
[rarediseases.info.nih.gov]
[…] fold Flat face Long face Low anterior hairline Microdontia Narrow mouth Short neck Short palpebral fissure Thin upper lip vermilion Upslanted palpebral fissure Wide nasal
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Blepharophimosis Broad neck Carious teeth Cleft palate Depressed nasal bridge Downslanted palpebral fissures Epicanthal
[ncbi.nlm.nih.gov]
[…] bridge Abnormality of limbs 2-3 toe syndactyly Clinodactyly of the 5th finger Long fingers Pes planus Short palm Tapered finger Abnormality of the breast Wide intermamillary
[ncbi.nlm.nih.gov]
and 2(b)), long downslanting palpebral fissures and hypertelorism (Figure 2(b)), and high arched palate.
[hindawi.com]
To the best of our knowledge, this case also adds previously unreported features to the phenotype, namely, the finding of long palpebral fissures, opposed to the more frequent
[hindawi.com]
Mild craniofacial dysmorphy was present including dolichocephaly, narrow bifrontal diameter, frontal bossing, prominent occiput, low set ears and retrognathia (Figures 2(a
[hindawi.com]
Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, microbrachycephaly, long narrow face, upslanting palpebral
[diki.pl]
Synopsis craniofacial anomalies mandibular hypoplasia (very hypoplastic mandible) narrow head downslanting palpebral fissures slight webbing of the neck low-set posteriorly
[humpath.com]
fissures, eye abnormalities, highly arched palate, preauricular skin tags and small mandible.
[diki.pl]
[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]
Abnormality of head or neck Blepharophimosis Depressed nasal bridge Epicanthal fold High palate Long philtrum Narrow mouth Short nose Short palpebral fissure Triangular face
[ncbi.nlm.nih.gov]
fissure Triangular face Wide nose Abnormality of the cardiovascular system Patent ductus arteriosus Patent foramen ovale Ventricular septal defect Abnormality of the eye
[ncbi.nlm.nih.gov]
smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate.
[malacards.org]
Dysmorphic features: bitemporal narrowing, receding short forehead, metopic prominence or craniosynostosis, abnormal head shape, epicanthal folds, short palpebral fissures
[gene.sfari.org]
[…] disorder characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing
[malacards.org]