[…] incomplete puberty Scoliosis Short stature Unusually fair skin Underdeveloped genitals Strabismus Small hands and feet Distinctive facial features such as a narrow forehead, almond-shaped
[childrensmercy.org]
The clinical appearance of PWS includes dysmorphic facial features with almond-shaped eyes, a narrow bifrontal diameter, and a thin upper lip; short stature; central obesity
[ncbi.nlm.nih.gov]
Different from western patients, the 20 Asian patients exhibited at least five of the following typical features: prominent forehead, narrow face, almond-shaped eyes, small
[ncbi.nlm.nih.gov]
[…] include: cleft palate, usually of the soft palate (the roof of the mouth nearest the throat which is behind the bony palate); heart problems; similar faces (elongated face, almond-shaped
[wiki.ggc.edu]
Typical facial features include a long face, small almond shaped eyes, a wide bridged nose, and malformations of the ear.
[genedx.com]
eyes, wide nose, small ears); eye problems; feeding problems that include food coming through the nose (nasal regurgitation) because of the palatal differences; middle-ear
[wiki.ggc.edu]
A flattened face — especially across the nose — and upward-slanted, almond-shaped eyes are two of the common physical features of Down syndrome.
[everydayhealth.com]
Individuals with DS may have certain physical attributes including: Almond-shaped eyes with striking Brushfield spots (small, white, crescent-shaped markings) on the irises
[babycenter.com]
Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue
[cdc.gov]
[…] type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped
[ncbi.nlm.nih.gov]
They suggest that the typical facial features are: a broad face, midface hypoplasia, almond shaped eyes, hypertelorism, depressed nasal bridge, prominent columella, hypoplastic
[fdna.health]
[…] disability type Nascimento (MIM #300860), due to mutations in (MIM *312180), is normally seen as a craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped
[eyesoftheelephants.com]
bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary
[eyewiki.aao.org]
Abnormality of head or neck Almond-shaped palpebral fissure Dental crowding Epicanthal fold High palate Long face Narrow face Prominent nasal bridge Upslanted palpebral fissure
[ncbi.nlm.nih.gov]
[…] pigmentation of trabecular meshwork, deposited pigment on Schwalbe's line AD - %600510 PRADER-WILLI SYNDROME Refractive errors, strabismus, upslanting palpebral fissures, almond-shaped
[eyewiki.aao.org]
Upon examination, he presented with short stature, neck webbing, and craniofacial dysmorphic features comprising full cheeks, prominent widened nasal bridge, almond-shaped
[bmcmedgenet.biomedcentral.com]
Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity
[icd10data.com]
(Osteogenesis imperfecta) AD - Connective tissue disorder - Mutation type 1 collagen Binge eating, hypotonia, hypogonadism, feeding problem in infancy Dysmorphic facies- almond-shaped
[quizlet.com]
The patients had similar mild dysmorphic features, including prominent high forehead, horizontal low-set eyebrows, mild epicanthus, almond-shaped eyes, short nose with prominent
[findzebra.com]
The eyes have been described as "almond-shaped". Strabismus and nystagmus are commonly present.
[disorders.eyes.arizona.edu]
You are here Search For A Disorder Clinical Characteristics Ocular Features: Poor visual acuity described as central in origin with poor eye contact.
[disorders.eyes.arizona.edu]
These may include inverted nipples, poor muscle tone, almond shaped eyes which are crossed, a large forehead, an unusual distribution of body fat, and abnormal genitals.
[myriad.com]
Clinical description Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears.
[orpha.net]
Dysmorphic features include frontal bossing, almond-shaped eyes, long eyelashes, depressed nasal bridge, and large, posteriorly rotated ears.
[ncbi.nlm.nih.gov]
Dysmorphic features include short stature, facial dysmorphism (including a high, narrow forehead, hypertelorism, almond-shape eyes, large and low set ears, and micrognathia
[orpha.net]
The baby displayed various features of facial dysmorphism (microcephaly, almond-shaped eye, abnormally high but narrow forehead, ocular hypertelorism, depressed nasal bridge
[bmcmedgenet.biomedcentral.com]
Weaver syndrome is a congenital overgrowth disorder that often displays tall stature, dysmorphic facial features (hypertelorism, broad forehead, almond-shaped eyes, pointed
[taylorfrancis.com]
Almond-shaped eyes Immovable, curved fingers and/or toes Changes in muscle tension (reduced muscle tension in the torso and/or increased muscle tension in the arms and legs
[krebs-praedisposition.de]
I have typical characteristics of Weaver Syndrome; large birth size, accelerated growth, atypical face view (big ears, big tongue, small chin, almond-shaped eyes), tall in
[rumeysagelgi.com]
Her facial features had typical beaked nose, low-set, large ears, almond-shaped eyes, narrow forehead, coarse hair, and hypertelorism (Fig. 1).
[scielo.mec.pt]
The baby displayed various features of facial dysmorphism (microcephaly, almond-shaped eye, abnormally high but narrow forehead, ocular hypertelorism, depressed nasal bridge
[ncbi.nlm.nih.gov]
14-month-old girl with infantile nephrotic syndrome having a protein to creatinine ratio of 6.1, microcephaly, low-set ears, hypertelorism, beaked nose, narrow-forehead, almond-shaped
[scielo.mec.pt]
bushy eyebrows/XLD/SLC9A6/#300243 CK SYNDROME/Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes/XLR/NSDHL/#300831 COCKAYNE SYNDROME/Pigmentary
[eyewiki.org]
bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary
[eyewiki.aao.org]
[…] pigmentation of trabecular meshwork, deposited pigment on Schwalbe’s line/AD/-/%600510 PRADER-WILLI SYNDROME/Refractive errors, strabismus, upslanting palpebral fissures, almond-shaped
[eyewiki.org]
These may include inverted nipples, poor muscle tone, almond shaped eyes which are crossed, a large forehead, an unusual distribution of body fat, and abnormal genitals.
[myriad.com]
These may or may not include: a broad forehead a uni-brow thick and/or arched eyebrows eye abnormalities almond-shaped eyes a short up-turned nose other nasal abnormalities
[2q23.org]
Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip. Poor sucking reflex.
[mayoclinic.org]
[…] addition, the patient displayed psychomotor retardation, developmental delay and a long face, phenotypes which become evident with developing CdCS, however, she also had almond-shaped
[spandidos-publications.com]
[…] determined that the patient presented features that have not previously been described in other patients, such as transverse flexion creases, a downturned mouth, a long face and almond-shaped
[spandidos-publications.com]
[…] clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped
[pubmed.ncbi.nlm.nih.gov]
eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis.
[pubmed.ncbi.nlm.nih.gov]
Facial characteristics include small ears with a squared upper ear, almond shaped eyes, flattened bridge of the nose, pear-shaped nose, and small mouth and chin.
[day2dayparenting.com]
Children with DiGeorge often have elongated faces, almond-shaped eyes and unusual outer ears.
[psychcentral.com]
Facial phenotype is characterized by a broad face, flat midface, synophrys and/or prominent eyebrows, almond shaped eyes, low nasal bridge, prominent columella of the nose
[link.springer.com]
[…] type Nascimento (MIM #300860), caused by mutations in UBE2A (MIM *312180), is characterized by craniofacial dysmorphism (synophrys, prominent supraorbital ridges, deep-set, almond-shaped
[ojrd.biomedcentral.com]
The facial phenotype is characterized by a broad face, flat midface, almond shaped eyes, ocular hypertelorism, low nasal bridge, prominent columella of the nose, hypoplastic
[link.springer.com]
[…] include: Developmental delays Speech and language delays that may be significant; learning difficulties Abnormal facial features that include: Large-sized head and forehead Almond-shaped
[dovemed.com]
eyes Eyebrows that meet at the center Low-set ears Upturned nose High-arched palate Small mouth Children are known to grow tall Feeding difficulties Abdominal pain and constipation
[dovemed.com]
Facial phenotype is characterized by a broad face, flat midface, synophrys and/or prominent eyebrows, almond shaped eyes, low nasal bridge, prominent columella of the nose
[ojrd.biomedcentral.com]
bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary
[eyewiki.aao.org]
Deletion of chromosome 22; usually de novo but may be inherited in an autosomal dominant manner Cleft palate; congenital heart defect; speech delay; elongated face with almond-shaped
[aafp.org]
bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary
[eyewiki.aao.org]
[…] intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped
[mendelian.co]
[…] pigmentation of trabecular meshwork, deposited pigment on Schwalbe's line AD - %600510 PRADER-WILLI SYNDROME Refractive errors, strabismus, upslanting palpebral fissures, almond-shaped
[eyewiki.aao.org]
bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary
[eyewiki.aao.org]
bushy eyebrows/XLD/SLC9A6/#300243 CK SYNDROME/Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes/XLR/NSDHL/#300831 COCKAYNE SYNDROME/Pigmentary
[eyewiki.org]
[…] pigmentation of trabecular meshwork, deposited pigment on Schwalbe's line AD - %600510 PRADER-WILLI SYNDROME Refractive errors, strabismus, upslanting palpebral fissures, almond-shaped
[eyewiki.aao.org]
They also have unique pixie-like facial features--almond shaped eyes, oval ears, full lips, small chins, narrow faces, and broad mouths.
[agentorangequiltoftears.com]
The characteristic phases include an abnormally high but narrow forehead, ocular hypertelorism, almond-shaped eyes, pinched nose, large, and low-set ears with or without ear
[sjkdt.org]
These may include inverted nipples, poor muscle tone, almond shaped eyes which are crossed, a large forehead, an unusual distribution of body fat, and abnormal genitals.
[counsyl.com]
Deletion of chromosome 22; usually de novo but may be inherited in an autosomal dominant manner Cleft palate; congenital heart defect; speech delay; elongated face with almond-shaped
[aafp.org]
Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity
[icd10data.com]
eyes; wide nose with hypoplastic alae nasi; small ears; slender, hyperextensible fingers Learning disabilities ± mild MR; psychiatric disorder in 10% High-resolution chromosome
[aafp.org]
H3O - Hypotonia and weakness - Hypogonadism - Hyperphagia - Obesity + Short stature + Almond-shaped eyes + Small hands and feet with tapering of fingers + Hypopigmentation
[brainscape.com]
bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped eyes XLR NSDHL #300831 COCKAYNE SYNDROME Pigmentary
[eyewiki.aao.org]
[…] pigmentation of trabecular meshwork, deposited pigment on Schwalbe's line AD - %600510 PRADER-WILLI SYNDROME Refractive errors, strabismus, upslanting palpebral fissures, almond-shaped
[eyewiki.aao.org]
The patient exhibited a shy demeanor, short statue, microcephaly and minor dysmorphic facial and body features, including long philtrum, frontal bossing, almond shaped eyes
[spandidos-publications.com]