[…] lateral eyebrows, prominent ears, and persistent fetal fingertip pads.
[ncbi.nlm.nih.gov]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Ventricular septal defect Hole in heart wall separating two lower
[rarediseases.info.nih.gov]
The reason for the disparity in incidence is controversial. characteristic facies long palpebral fissures eversion of the lower eyelid arched eyebrows the sparseness of the
[radiopaedia.org]
[…] hair 0008070 Sparse lateral eyebrow Limited hair on end of eyebrow 0005338 Sparse or absent eyelashes 0200102 Supernumerary nipple Accessory nipple 0002558 Thin skin 0000963
[rarediseases.info.nih.gov]
eyebrows in patient 1 and by sparse eyebrows and teeth anomalies in patient 2.
[nature.com]
[…] hair, long face, high frontal hair line, sparse eyebrows and eyelashes, hypoplastic alae nasi, and low-set ears; and (d) shawl scrotum.
[molecularcytogenetics.biomedcentral.com]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp hair, thinning Sparse
[rarediseases.info.nih.gov]
eyebrow IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA WITH NATAL TEETH, TURNPENNY TYPE HP:0000653 Sparse eyelashes IEA IEA 17.02.2009 MIM:601345 ECTODERMAL DYSPLASIA
[sourceforge.net]
There was some scaling of the scalp and their eyebrows were very sparse or absent.
[doczz.net]
In most cases body hair, axillary hair, and public hair were also sparse. Eyebrows, eyelashes, and beard hairs were not affected.
[omim.org]
Ptosis, microcornea, congenital cataracts, sparse eyebrows, and strabismus are usually present. Epicanthal folds are often seen.
[disorders.eyes.arizona.edu]
The eyebrows, eyelashes, and other body hair may be sparse as well.
[ncbi.nlm.nih.gov]
eyebrows, eyelashes and hair; brother had RTS and died of metastatic osteosarcoma; donor is the son of AG18376/AG18459 (mother) and AG18377 (father); AG18375 is a fibroblast
[catalog.coriell.org]
Other associated symptoms and signs include sparse hair, eyebrows, and eyelashes; slow growth; small stature; teeth and nail abnormalities; and chronic diarrhea and vomiting
[medicinenet.com]
RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy
[repository.javeriana.edu.co]
Underdeveloped Thick, discolored Hair Fine, brittle, slow-growing Total balding (alopecia) Missing in spots for males Sparse eyelashes Sparse eyebrow Absent underarm hair
[nfed.org]
eyebrows and eyelashes, normal teeth Date 2015 Source Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical
[commons.wikimedia.org]
or absent after puberty Body, eyelashes, eyebrows sparse to absent; secondary conjunctivitis, blepharitis Musculoskeletal Tufting of terminal phalanges and thickened skull
[cram.com]
These include epicanthal folds, upward-slanting lid fissures, ptosis, blepharophimosis, sparse eyebrows, and telecanthus.
[disorders.eyes.arizona.edu]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Ventriculomegaly 0002119
[rarediseases.info.nih.gov]
0004283 Optic disc pallor 0000543 Ovoid vertebral bodies 0003300 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Single transverse palmar crease 0000954 Sparse
[rarediseases.info.nih.gov]
Affected individuals show sparse and slowly growing scalp hair as well as sparse eyebrows.
[link.springer.com]
These syndromes have characteristic facial abnormalities such as sparse and slow-growing scalp hair, laterally sparse eyebrows, bulbous pear-shaped nose, elongated and flat
[ncbi.nlm.nih.gov]
Patients have sparse, slowly growing scalp hair, laterally sparse eyebrows, a bulbous tip of the nose, protruding ears, long flat philtrum and thin upper vermillion border
[invitae.com]
The eyes may have very distinct characteristics and may include short palpebral fissures, telecanthus, ptosis, blepharophimosis, epicanthal folds, sparse eyebrows, microphthalmia
[dubowitzsyndrome.net]
eyebrows and hair.
[symptoma.com]
[…] following: Facial changes - One of the cardinal features of Dubowitz syndrome is a narrow and triangular-shaped face with micrognathia, a sloping forehead, and thin and sparse
[symptoma.com]
eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis, thin upper lip and unilateral sensorioneural deafness in one of them.
[ncbi.nlm.nih.gov]
60 Very frequent (99-80%) 42 sparse eyebrow 60 Frequent (79-30%) 43 absent gonadal tissue 60 Very frequent (99-80%)
[malacards.org]
Her face was dysmorphic, which included a triangular shape with a large forehead, alopecia predominant in the fronto-temporal region of the scalp, sparse eyebrows and eyelashes
[e-sciencecentral.org]
The most important hair anomalies in both siblings were sparse eyebrows, pili torti, and pili canaliculi.
[hero.epa.gov]
This syndrome is characterized by stiff sparse hair with the appearance of steel wool, sparse eyebrows and lashes, cleft palate, absence of lacrimal punctae, epiphora, a decreased
[ncbi.nlm.nih.gov]
sparse hair, sparse eyebrows, sparse eyelashes, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, natal teeth, and beaking of the
[accesspediatrics.mhmedical.com]
[…] tremor, and nystagmus), head and neck (pseudohydrocephaly and apparent macrocephaly, small face, prognathism, micrognathia, microstoma, low-set ears, high forehead, decreased eyebrows
[accesspediatrics.mhmedical.com]
Eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs.
[ncbi.nlm.nih.gov]
A one-and-a-half-month-old male baby was brought by his maternal grandmother with complaints of frontoparietal scalp hair recession, sparse eyelashes and eyebrows [Figure
[idoj.in]
Examination of the fifteen individuals alive revealed absent hair from the scalp and eyebrows, absent pubic and axillary hair, and sparse eyelashes on the upper eyelid in
[cags.org.ae]
Some patients may have dry, thin hair and sparse eyebrows, and may have a smooth tongue with missing taste buds.
[sema4.com]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse body hair 0002231 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209
[rarediseases.info.nih.gov]
[…] sweating Sweating, decreased [ more ] 0000966 Photophobia Extreme sensitivity of the eyes to light Light hypersensitivity [ more ] 0000613 Plantar hyperkeratosis 0007556 Sparse
[rarediseases.info.nih.gov]
Her craniofacial features included upslanting palpebral fissures, no medial eyelashes, sparse eyebrows, and lacrimal duct stenosis (Fig. 1A, B).
[karger.com]
[…] hair or bald patches around the temples, and sparse eyebrows.
[contact.org.uk]
Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly
[ncbi.nlm.nih.gov]
On examination, he had scanty scalp hair and sparse eyebrows and eyelashes.
[journals.lww.com]
She had dysmorphic facial features including a triangular shape with a large forehead, sparse eyebrows and eyelashes, alopecia predominant in the fronto-temporal region of
[cags.org.ae]
On examination, the proband had scanty scalp hair, sparse eyebrows and eyelashes, and no secondary sexual characteristics.
[journals.lww.com]
eyebrows and hair.
[invitae.com]
[…] hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal
[mousephenotype.org]
[…] lateral eyebrows velar dysfunction References Stevenson, RE, et al.
[invitae.com]
It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with
[genecards.org]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 1%-4% of people have these symptoms Intestinal
[rarediseases.info.nih.gov]
[…] location Displaced kidney [ more ] 0000086 Erythroderma 0001019 Hydronephrosis 0000126 Short stature Decreased body height Small stature [ more ] 0004322 Skin rash 0000988 Sparse
[rarediseases.info.nih.gov]
Sparse or absent eyebrows Sparse or absent eyelashes Diagnosing Fried Syndrome A physician can diagnose Fried syndrome on the basis of physical features.
[nfed.org]
At present we can identify dry scaly skin; fine sparse and brittle hair, eyebrows, and eyelashes, hypodontia, nail dystrophy, hypohidrosis, and athelia, with deficient hearing
[omicsonline.org]
(a) A female child with sparse scalp hair and absent eyebrows and eyelashes with an old man appearance.
[e-ijd.org]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Spotty hyperpigmentation Spotty increased
[rarediseases.info.nih.gov]
Sparse eyebrow MedGen UID: 371332 •Concept ID: C1832446 • Finding Decreased density/number of eyebrow hairs.
[ncbi.nlm.nih.gov]
[…] and thin eyebrow ; Sparse eyelashes ; Spotty hyperpigmentation ; Wide cranial sutures Associated Genes BANF1 (Withdrawn symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols
[mousephenotype.org]
Figure 2 Facial appearance of the patient with MWS at the age of 22 months showing ocular hypertelorism, frontal bossing, rounded nasal tip, sparse eyebrows, and uplifted
[dovepress.com]
The clinical findings of the patients On dysmorphological examination, all patients had the typical facial features of MWS: uplifted earlobes, sparse eyebrows with medial
[karger.com]
Formal evaluation by geneticist confirmed that all physical features were consistent with MWS: wide forehead with frontal bossing, laterally sparse eyebrows, hypertelorism
[aap.confex.com]
The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists
[ajol.info]
[…] and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth ; Tetralogy of Fallot Associated Genes RNU4ATAC (Withdrawn symbols: RNU4ATAC1, U4atac ) Mouse Orthologs
[mousephenotype.org]
Sparse hair and eyebrows, and dry skin are frequently observed.
[orpha.net]
Sparse eyebrows Glaucoma Undescended testes Small penis Hypothyroidy Small teeth Peripheral retinal pigmentary changes Sparse scalp hair Absent scalp hair Weak eye muscles
[checkorphan.org]
[…] the 24 symptoms listed below: Scaly skin Pituitary gonadotropic hormone deficiency Secondary hypogonadism Delayed puberty Seizures Short stature Long thin fingers Absent eyebrows
[checkorphan.org]
[…] lateral eyebrows XLD - %304050 ALAGILLE SYNDROME Posterior embryotoxin, deep-set eyes, hypertelorism, upslanting palpebral fissures, ectopic pupils, chorioretinal atrophy
[eyewiki.aao.org]
[…] lateral eyebrows/XLD/-/%304050 ALAGILLE SYNDROME/Posterior embryotoxin, deep-set eyes, hypertelorism, upslanting palpebral fissures, ectopic pupils, chorioretinal atrophy
[eyewiki.org]
[…] disorder Pectus carinatum Dental crowding Mitral regurgitation Exotropia Neonatal onset Narrow palate Neck muscle weakness Increased serum pyruvate Mitochondrial inheritance Sparse
[mendelian.co]
One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias
[diseaseinfosearch.org]
eyebrows, depressed nasal bridge, bulbous nose, full lips, sparse hair, arched eyebrows, long eyelashes, ptosis, downslanting palpebral fissures, prominent ears, thick earlobes
[en.wikipedia.org]
The patient had mild but progressive microcephaly (-2 SD) and dysmorphic facial features, including sloping forehead, hypertelorism, sparse eyebrows, depressed nasal bridge
[omim.org]
eyebrows hand abnormalities scoliosis cleft lip and palate Other health issues associated with Aicardi syndrome are: difficulty eating acid reflux gastrointestinal problems
[medicalnewstoday.com]
[…] with Aicardi syndrome have unusual facial features including a short area between the upper lip and the nose (philtrum), a flat nose with an upturned tip, large ears, and sparse
[ghr.nlm.nih.gov]
These features may include sparse eyebrows and eyelashes, and follicular hyperkeratosis (white bumps on the skin).
[stjude.org]
eyebrows and eyelashes Developmental and/or cognitive delays Tumor risks While cancer is not a major feature of Noonan syndrome, people with Noonan syndrome are at a slightly
[chop.edu]
Skin anomalies were uncommon and usually mild, but some patients exhibited sparse eyebrows (10%), hyperkeratosis (11%), and deep palmar creases (38%).
[nature.com]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Reduced/lack of hair on
[rarediseases.info.nih.gov]
Features that are unique to this type include short stature ; bowing of the legs; weak muscle tone; sparse scalp hair and eyebrows; soft, doughy skin; and thin, translucent
[rarediseases.info.nih.gov]
[…] scalp hair, flat face, wide forehead, blue sclerae, abnormal teeth, and cleft palate/bifid uvula) Thin, curly hair; sparse eyebrows and eyelashes Joint contractures and hypermobility
[rarediseases.info.nih.gov]
thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails
[orpha.net]
[…] dysplasia-alopecia syndrome Disease definition Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse
[orpha.net]
