[…] lateral eyebrows, prominent ears, and persistent fetal fingertip pads.
[…] 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
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
[…] 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
eyebrows in patient 1 and by sparse eyebrows and teeth anomalies in patient 2.
[…] hair, long face, high frontal hair line, sparse eyebrows and eyelashes, hypoplastic alae nasi, and low-set ears; and (d) shawl scrotum.
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp hair, thinning Sparse
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
There was some scaling of the scalp and their eyebrows were very sparse or absent.
In most cases body hair, axillary hair, and public hair were also sparse. Eyebrows, eyelashes, and beard hairs were not affected.
Ptosis, microcornea, congenital cataracts, sparse eyebrows, and strabismus are usually present. Epicanthal folds are often seen.
The eyebrows, eyelashes, and other body hair may be sparse as well.
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
Other associated symptoms and signs include sparse hair, eyebrows, and eyelashes; slow growth; small stature; teeth and nail abnormalities; and chronic diarrhea and vomiting
RTS is associated with short stature, sparse eyelashes, sparse eyebrows and sparse scalp hair, skeletal abnormalities, premature aging, photosensitivity, ungueal dystrophy
Underdeveloped Thick, discolored Hair Fine, brittle, slow-growing Total balding (alopecia) Missing in spots for males Sparse eyelashes Sparse eyebrow Absent underarm hair
eyebrows and eyelashes, normal teeth Date 2015 Source Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical
or absent after puberty Body, eyelashes, eyebrows sparse to absent; secondary conjunctivitis, blepharitis Musculoskeletal Tufting of terminal phalanges and thickened skull
These include epicanthal folds, upward-slanting lid fissures, ptosis, blepharophimosis, sparse eyebrows, and telecanthus.
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Ventriculomegaly 0002119
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
Affected individuals show sparse and slowly growing scalp hair as well as sparse eyebrows.
These syndromes have characteristic facial abnormalities such as sparse and slow-growing scalp hair, laterally sparse eyebrows, bulbous pear-shaped nose, elongated and flat
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
The eyes may have very distinct characteristics and may include short palpebral fissures, telecanthus, ptosis, blepharophimosis, epicanthal folds, sparse eyebrows, microphthalmia
eyebrows and hair.
[…] 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
eyebrows, absence of breast tissue, absent ovaries, mild-moderate dorsal kyphosis, thin upper lip and unilateral sensorioneural deafness in one of them.
60 Very frequent (99-80%) 42 sparse eyebrow 60 Frequent (79-30%) 43 absent gonadal tissue 60 Very frequent (99-80%)
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
The most important hair anomalies in both siblings were sparse eyebrows, pili torti, and pili canaliculi.
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
sparse hair, sparse eyebrows, sparse eyelashes, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, natal teeth, and beaking of the
[…] tremor, and nystagmus), head and neck (pseudohydrocephaly and apparent macrocephaly, small face, prognathism, micrognathia, microstoma, low-set ears, high forehead, decreased eyebrows
Eyebrow, eyelash, and body hair may also be sparse or absent; patients may have a few pubic and axillary hairs.
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
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
Some patients may have dry, thin hair and sparse eyebrows, and may have a smooth tongue with missing taste buds.
[…] 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
[…] sweating Sweating, decreased [ more ] 0000966 Photophobia Extreme sensitivity of the eyes to light Light hypersensitivity [ more ] 0000613 Plantar hyperkeratosis 0007556 Sparse
Her craniofacial features included upslanting palpebral fissures, no medial eyelashes, sparse eyebrows, and lacrimal duct stenosis (Fig. 1A, B).
[…] hair or bald patches around the temples, and sparse eyebrows.
Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly
On examination, he had scanty scalp hair and sparse eyebrows and eyelashes.
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
On examination, the proband had scanty scalp hair, sparse eyebrows and eyelashes, and no secondary sexual characteristics.
eyebrows and hair.
[…] hair ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal
[…] lateral eyebrows velar dysfunction References Stevenson, RE, et al.
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
[…] 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
[…] location Displaced kidney [ more ] 0000086 Erythroderma 0001019 Hydronephrosis 0000126 Short stature Decreased body height Small stature [ more ] 0004322 Skin rash 0000988 Sparse
Sparse or absent eyebrows Sparse or absent eyelashes Diagnosing Fried Syndrome A physician can diagnose Fried syndrome on the basis of physical features.
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
(a) A female child with sparse scalp hair and absent eyebrows and eyelashes with an old man appearance.
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Spotty hyperpigmentation Spotty increased
Sparse eyebrow MedGen UID: 371332 •Concept ID: C1832446 • Finding Decreased density/number of eyebrow hairs.
[…] and thin eyebrow ; Sparse eyelashes ; Spotty hyperpigmentation ; Wide cranial sutures Associated Genes BANF1 (Withdrawn symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols
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
The clinical findings of the patients On dysmorphological examination, all patients had the typical facial features of MWS: uplifted earlobes, sparse eyebrows with medial
Formal evaluation by geneticist confirmed that all physical features were consistent with MWS: wide forehead with frontal bossing, laterally sparse eyebrows, hypertelorism
The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists
[…] and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth ; Tetralogy of Fallot Associated Genes RNU4ATAC (Withdrawn symbols: RNU4ATAC1, U4atac ) Mouse Orthologs
Sparse hair and eyebrows, and dry skin are frequently observed.
Sparse eyebrows Glaucoma Undescended testes Small penis Hypothyroidy Small teeth Peripheral retinal pigmentary changes Sparse scalp hair Absent scalp hair Weak eye muscles
[…] the 24 symptoms listed below: Scaly skin Pituitary gonadotropic hormone deficiency Secondary hypogonadism Delayed puberty Seizures Short stature Long thin fingers Absent eyebrows
[…] lateral eyebrows XLD - %304050 ALAGILLE SYNDROME Posterior embryotoxin, deep-set eyes, hypertelorism, upslanting palpebral fissures, ectopic pupils, chorioretinal atrophy
[…] lateral eyebrows/XLD/-/%304050 ALAGILLE SYNDROME/Posterior embryotoxin, deep-set eyes, hypertelorism, upslanting palpebral fissures, ectopic pupils, chorioretinal atrophy
[…] disorder Pectus carinatum Dental crowding Mitral regurgitation Exotropia Neonatal onset Narrow palate Neck muscle weakness Increased serum pyruvate Mitochondrial inheritance Sparse
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
eyebrows, depressed nasal bridge, bulbous nose, full lips, sparse hair, arched eyebrows, long eyelashes, ptosis, downslanting palpebral fissures, prominent ears, thick earlobes
The patient had mild but progressive microcephaly (-2 SD) and dysmorphic facial features, including sloping forehead, hypertelorism, sparse eyebrows, depressed nasal bridge
eyebrows hand abnormalities scoliosis cleft lip and palate Other health issues associated with Aicardi syndrome are: difficulty eating acid reflux gastrointestinal problems
[…] 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
These features may include sparse eyebrows and eyelashes, and follicular hyperkeratosis (white bumps on the skin).
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
Skin anomalies were uncommon and usually mild, but some patients exhibited sparse eyebrows (10%), hyperkeratosis (11%), and deep palmar creases (38%).
[…] 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
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
[…] 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
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
[…] 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