The locus for LAH2 (characterized by sparse or absent scalp, axillary and body hair, and sparse eyebrows and eyelashes) has been mapped to 3q27.3 and mutations in the lipase-H
[orpha.net]
He had sparse hairs on scalp, eyebrows and eyelashes at birth.
[ijtrichology.com]
The scalp hair is sparse to absent, eyebrows and eyelashes are normal or short and sparse, and the body hairs are normal or sparse.
[nature.com]
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]
(Belgium) - >38y - - - RTS2 Growth delay, plantar hyperkeratosis, sparse hair, eyelashes and eyebrows, enamel defects, osteopenia, diarrhea in infancy, hypogonadism, chronic
[databases.lovd.nl]
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]
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]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 5%-29% of people have these symptoms Abnormal
[rarediseases.info.nih.gov]
[…] and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia.
[moh-it.pure.elsevier.com]
[…] 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]
[…] reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse
[moh-it.pure.elsevier.com]
Abstract We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped
[ncbi.nlm.nih.gov]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Triangular face Face with broad temples and
[rarediseases.info.nih.gov]
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]
Unique facial features of the syndrome include a small head, a triangular or narrow face, droop eyes, ears set too low, sparse hair and eyebrows, and a small jaw.
[fdna.health]
[…] or absent eyebrows Sparse or thin head hair Malformed ears Low-set ears Wide-set eyes The cause of DS is not known.
[forgottendiseases.org]
[…] scalp hair Flexural areas eczema Delayed teeth eruption Dental caries Syndactyly of second toes Brachyclinodactyly of fifth fingers Hair is sparse on lateral eyebrows Syndactyly
[syndrome.org]
60 Very frequent (99-80%) 42 sparse eyebrow 60 Frequent (79-30%) 43 absent gonadal tissue 60 Very frequent (99-80%)
[malacards.org]
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]
/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal
[ab-y-ss.com]
sparse hair, sparse eyebrows, sparse eyelashes, prominent scalp veins, entropion, greatly widened anterior fontanelles, malar hypoplasia, natal teeth, and beaking of the
[accessanesthesiology.mhmedical.com]
She had prominent scalp veins, facial dysmorphism sparse eyebrows and hair and significant developmental delay.
[ashg.org]
[…] tremor, and nystagmus), head and neck (pseudohydrocephaly and apparent macrocephaly, small face, prognathism, micrognathia, microstoma, low-set ears, high forehead, decreased eyebrows
[accessanesthesiology.mhmedical.com]
[…] by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair; sparse
[medical-dictionary.thefreedictionary.com]
He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss.
[ncbi.nlm.nih.gov]
[…] eyelashes and eyebrows; obstructed lacrimal puncta/epiphora; bilateral stenosis of external auditory canals; microsomia; hypodontia; cone-shaped incisors; enamel hypoplasia
[medical-dictionary.thefreedictionary.com]
Facial features include long palpebral fissures with eversion of the lower lateral eyelid, sparse and arched eyebrows, depressed nasal tip, and large prominent earlobes.
[dnatesting.uchicago.edu]
[…] 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]
[…] lateral eyebrows, prominent ears, and persistent fetal fingertip pads.
[ncbi.nlm.nih.gov]
[…] 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]
Some STHAG4 patients manifest mild features of ectodermal dysplasia, including sparse hair, sparse eyebrows, short eyelashes, abnormalities of the nails, sweating anomalies
[genecards.org]
Some patients may have dry, thin hair and sparse eyebrows, and may have a smooth tongue with missing taste buds.
[sema4genomics.com]
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]
Hair abnormalities included sparse eyelashes and eyebrows with total absence of scalp hair [Figure - 1].
[ijdvl.com]
[…] 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 hair and eyebrows, dry skin, short limbs and dislocation of the hips and elbows are other common features.
[childnervoussystem.blogspot.com]
[…] 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]
Newborns and children also have a specific phenotype, characterized by facial dimorphism: "coarse" facies, high forehead, sparse lashes and eyebrows, shallow supraorbital
[symptoma.com]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse hair 0008070 Thick upper lip vermilion Full upper lip Increased volume of upper lip Plump upper lip Prominent upper
[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 ; Sparse lateral eyebrow ; Spasticity ; Strabismus ; Tetralogy of Fallot ; Thin upper lip vermilion ; Triangular face ; Upslanted palpebral fissure ; Ventricular septal
[mousephenotype.org]
[…] lateral eyebrow Telecanthus Thin upper lip vermilion Triangular face Upslanted palpebral fissure Wide nasal bridge Abnormality of limbs Clinodactyly of the 5th finger Narrow
[ncbi.nlm.nih.gov]
eyebrows and hair.
[invitae.com]
[…] 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]
[…] and thin eyebrow ; Sparse eyelashes ; Spotty hyperpigmentation ; Wide cranial sutures Associated Genes BANF1 (Withdrawn symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols
[mousephenotype.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]
[…] and thin eyebrow Very Common - Between 80% and 100% cases Insulin resistance Very Common - Between 80% and 100% cases Other less frequent symptoms Patients with BANF1 gene
[mendelian.co]
Frontal bossing, prominent supraorbital ridge, sunken cheeks, thick lips, low-set ears, scanty eyebrows and hypotrichosis with fine, sparse and brittle scalp hair but normal
[ncbi.nlm.nih.gov]
HED is associated with typical facial features such as a protruding forehead, sparse and fine eyebrows and eyelashes, wrinkles under the eyes, characteristic periorbital hyperpigmentation
[orpha.net]
Hair abnormalities included sparse eyelashes and eyebrows with total absence of scalp hair [Figure - 1].
[dx.doi.org]
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]
[…] 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]
[…] scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal
[databases.lovd.nl]
[…] scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal
[databases.lovd.nl]
[…] scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); ptosis (HP:
[databases.lovd.nl]
Sparse eyebrow Hypotrichosis of eyebrow Decreased density/number of eyebrow hairs.
[rarediseases.oscar.ncsu.edu]
He was also presenting sparse scalp hair, sparse eyebrow, webbed neck, hypertelorism, low-set dysplastic ear, generalized hypotonia.
[3billion.io]
People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows.
[medlineplus.gov]
They also have absent or sparse eyebrows and eyelashes. In some children, the nails are dystrophic, with broad flat nails, and/or fast growing.
[rarediseases.org]
[…] and twisted hair (pili torti) and absent or sparse eyebrows, hypohidrosis, dry skin, palmoplantar keratoderma, abnormal teeth (delayed eruption, microdontia/hypodontia, and
[dovemed.com]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Showing of 52 | Last updated: 2/1/2021 Find
[rarediseases.info.nih.gov]
[…] and thin eyebrow Sparse eyelashes Very frequently present symptoms in 80-99% of the cases: Bilateral cleft lip and palate Ectodermal dysplasia Finger syndactyly Macrotia
[dovemed.com]
Features Sex Tight/thick facial skin Blepharophimosis Telecanthus Reduced facial movement Arched/ sparse eyebrows Frontal upsweep Pinna anomaly Bulbous nose Long philtrum
[docksci.com]
Both subjects show typical NMLFS facial features, including tight, glistening facial skin, laterally sparse eyebrows, telecanthus, blepharophimosis, bulbous nasal tip, micrognathia
[docksci.com]
Fixed elbow flexion MedGen UID: 870595 •Concept ID: C4025044 • Finding Sparse and thin eyebrow MedGen UID: 924309 •Concept ID: C4282407 • Finding Decreased density/number
[ncbi.nlm.nih.gov]
He was also presenting sparse scalp hair, sparse eyebrow, webbed neck, hypertelorism, low-set dysplastic ear, generalized hypotonia.
[3billion.io]
Cutaneous findings usually include sparse, curly hair with sparse eyebrows and lashes, hyperkeratosis, keratosis pilaris, hemangioma, ichthyosis, progressively forming nevi
[invitae.com]
Patient’s front view: coarse face and asymmetry due to left hypoplasia, high and prominent forehead, hypoplastic supraorbital ridges, sparse and friable hair, eyebrows and
[ijponline.biomedcentral.com]
[…] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Squamous cell carcinoma 0002860 Trichiasis
[rarediseases.info.nih.gov]
[…] hair or areas of baldness (alopecia), often affecting the eyebrows or eyelashes absent, small, or abnormal nails abnormal teeth reduced sweating an increased risk for developing
[rarediseases.info.nih.gov]
[…] percentage of people may have recurrent or chronic inflammation of the mucous membrane of the eye ( conjunctivitis ). [4] Other features of KID syndrome may include: [4] [1] sparse
[rarediseases.info.nih.gov]