Limited hair on end of eyebrow 0005338 Swelling of proximal interphalangeal joints Swelling of innermost hinge joints 0006253 Thin eyebrow Thin eyebrows 0045074 Thin nail
[rarediseases.info.nih.gov]
Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows Neurological Low muscle tone in infancy (hypotonia) Normal intelligence Voice Deep Diagnosing TRPS1 is
[nfed.org]
Facial characteristics of the syndrome include a rounded nose, long, flat philtrum, a thin and long upper lip, large ears, small lower jaw, thin eyebrows, sparse eyelashes
[fdna.health]
eyebrow Thin eyebrows 0045074 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wide mouth Broad mouth Large mouth [ more ] 0000154 5%-29% of people
[rarediseases.info.nih.gov]
eyebrows - Blepharophimosis / short palpebral fissures - Complete / partial microdontia - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth
[csbg.cnb.csic.es]
eyebrow Not very common - Between 30% and 50% cases Fine hair Commonly - More than 50% cases Thin skin Not very common - Between 30% and 50% cases Short palpebral fissure
[mendelian.co]
[…] and thin eyebrow that can help you solving undiagnosed cases.
[mendelian.co]
eyebrow Thin, sparse eyebrows 0000535 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 Steatocystoma multiplex 0012035
[rarediseases.info.nih.gov]
Diseases related with Autoimmunity and Sparse and thin eyebrow In the following list you will find some of the most common rare diseases related to Autoimmunity and Sparse
[mendelian.co]
eyebrow 33 frequent (33%) HP:0000535 32 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365 33 triphalangeal thumb 60 33 occasional (7.5%) Occasional
[malacards.org]
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]
mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course.
[ab-y-ss.com]
Typical facial features include: Thin eyebrows that meet in the middle Long eyelashes A short upturned nose Thin downturned lips Learn more about the physical characteristics
[gemssforschools.org]
Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.
[cdlsworld.org]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Spotty hyperpigmentation Spotty increased pigmentation
[rarediseases.info.nih.gov]
eyebrow ; Sparse eyelashes ; Spotty hyperpigmentation ; Wide cranial sutures Associated Genes BANF1 (Withdrawn symbols: BAF ) Mouse Orthologs Banf1 (Withdrawn symbols: C78287
[mousephenotype.org]
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 alterations
[mendelian.co]
Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Palmoplantar hyperkeratosis / keratoderma - Tooth shape anomaly - Urticaria Frequent - Absent / decreased / thin
[csbg.cnb.csic.es]
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 Percent
[rarediseases.info.nih.gov]
Some patients may have dry, thin hair and sparse eyebrows, and may have a smooth tongue with missing taste buds.
[sema4genomics.com]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 5%-29% of people have these symptoms Abnormal nasolacrimal
[rarediseases.info.nih.gov]
Physical examination revealed severely dystrophic nails and thin scalp hair, fine eyebrows and eyelashes and thin body hair.
[panafrican-med-journal.com]
Eyebrows are thin or absent. Teeth are usually normal. Treatment: Genetic counseling is indicated.
[skincareguide.ca]
Limited hair on end of eyebrow 0005338 Swelling of proximal interphalangeal joints Swelling of innermost hinge joints 0006253 Thin eyebrow Thin eyebrows 0045074 Thin nail
[rarediseases.info.nih.gov]
Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows Neurological Low muscle tone in infancy (hypotonia) Normal intelligence Voice Deep Diagnosing TRPS1 is
[nfed.org]
He has alopecia and thin lateral eyebrows. Typical bone deformities include short, deformed fingers (right, here shown in the mother).
[movementdisorders.org]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sporadic No previous family history 0003745 Wide nasal
[rarediseases.info.nih.gov]
Dysmorphologic evaluation revealed: narrow face, thick medially sparse eyebrows, hypertelorism, columella below alae nasi, thin lips, retrognathia, low set ears with large
[nature.com]
/dry skin + + + + + - - + 6/8 Thin-sparse hair + + + + + - + - - + 7/10 Thin-sparse eyebrows/eyelashes + + + + + + + + - - + 9/11 Teeth abnormalities + g + h - + i + j - +
[molecularcytogenetics.biomedcentral.com]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Reduced/lack of hair on scalp Scalp
[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]
curly hair; sparse eyebrows and eyelashes Joint contractures and hypermobility Loose, elastic skin on the face The former name for spondylodysplastic Ehlers-Danlos syndrome
[rarediseases.info.nih.gov]
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]
Diseases related with Carcinoma and Sparse and thin eyebrow In the following list you will find some of the most common rare diseases related to Carcinoma and Sparse and thin
[mendelian.co]
Symptoms List: Trichodysplasia-xeroderma syndrome Symptoms and clinical features may include: 1 Clinical Features of Trichodysplasia-xeroderma syndrome : Sparse and thin eyebrow
[familydiagnosis.com]
eyebrow 33 hallmark (90%) HP:0000535 9 alopecia 60 33 frequent (33%) Frequent (79-30%) HP:0001596 10 sparse body hair 60 33 frequent (33%) Frequent (79-30%) HP:0002231 11
[malacards.org]
Limited hair on end of eyebrow 0005338 Swelling of proximal interphalangeal joints Swelling of innermost hinge joints 0006253 Thin eyebrow Thin eyebrows 0045074 Thin nail
[rarediseases.info.nih.gov]
Protruding ear ; Scoliosis ; Short distal phalanx of finger ; Short metacarpal ; Short metatarsal ; Short stature ; Shortening of all phalanges of fingers ; Sparse and thin
[mousephenotype.org]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Triangular face Face with broad temples and narrow
[rarediseases.info.nih.gov]
[…] palm - Syndactyly of toes Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormally placed nipples - Absent / decreased / thin
[csbg.cnb.csic.es]
eyebrow Hypohidrosis Wide intermamillary distance Oral cleft Cleft upper lip Finger syndactyly Hyperlordosis Cleft lip Hypogonadotrophic hypogonadism Toe syndactyly Peripheral
[mendelian.co]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Showing of 52 | Last updated: 2/1/2021 Find a Specialist
[rarediseases.info.nih.gov]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sparse scalp hair Scalp hair, thinning Sparse, thin
[rarediseases.info.nih.gov]
Hemangioma Retinal dystrophy Sparse eyebrow Sparse and thin eyebrow Small nail Carious teeth Carcinoma Nevus Posterior fossa cyst Tubulointerstitial nephritis Scaphocephaly
[mendelian.co]
0000677 Relative macrocephaly Relatively large head 0004482 Short stature Decreased body height Small stature [ more ] 0004322 Slow-growing scalp hair 0100038 Sparse and thin
[rarediseases.info.nih.gov]
[…] anomalies Absent/decreased/thin eyebrows Darker than expected eyebrows Flared eyebrows High arched eyebrows Lateral thinning of eyebrows Synophris/synophrys Thick/bushy eyebrows
[readbag.com]
[…] blindness/amblyopia Vitreous anomalies/hyalitis/persistent vitreous vascularisation Xerophthalmia/dry eyes www.orphanet.net/ 4 of 39 Thesaurus of Clinical Signs and Symptoms Eyebrows
[readbag.com]
[…] myxomatous mitral valve degeneration calcific aortic stenosis Hair: loss of eyebrows and eyelashes thinning and graying of scalp hair in adolescence Joints: polyarticular
[malacards.org]
[…] progressive calcific cardiac valvular disease 33 HP:0006694 8 myxomatous mitral valve degeneration 33 HP:0004764 9 polyarticular arthropathy 33 HP:0005195 10 sparse and thin
[malacards.org]
eyebrow 33 HP:0000535 Symptoms via clinical synopsis from OMIM: 58 Cardiac: mitral valve prolapse calcific mitral stenosis early progressive calcific cardiac valvular disease
[malacards.org]
eyebrow Lipodystrophy Melanocytic nevus Abnormality of dental enamel Venous thrombosis Small for gestational age Microcornea Small hand Irregular hyperpigmentation Lymphedema
[mendelian.co]
eyebrow Fine hair Encephalocele Joint hypermobility Inability to walk Oligohydramnios Congenital visual impairment Hypertonia Atrial septal defect Intellectual disability
[mendelian.co]
Narrow face Short phalanx of finger X-linked dominant inheritance Prominent nose Short metacarpal Prominent nasal bridge Visual loss Blindness Visual impairment Sparse and thin
[mendelian.co]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 X-linked inheritance 0001417 X-linked recessive inheritance
[rarediseases.info.nih.gov]
Perifollicular fibrosis 0030054 Photophobia Extreme sensitivity of the eyes to light Light hypersensitivity [ more ] 0000613 Scarring alopecia of scalp 0004552 Sparse and thin
[rarediseases.info.nih.gov]
Pili torti Flattened and twisted hair 0003777 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more
[rarediseases.info.nih.gov]
60 Very frequent (99-80%) 12 pili torti 60 Very frequent (99-80%) 13 sparse and thin eyebrow 33 HP:0000535 Symptoms via clinical synopsis from OMIM: 58 Skin: photosensitivity
[malacards.org]
[…] hair shaft Thin hair texture [ more ] 0002213 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249
[rarediseases.info.nih.gov]
[…] or missing eyebrows wide-set eyes eyes that don't line up or one eye that wanders (strabismus) back-and-forth eye movements (nystagmus) drooping eyelids a small chin a short
[kidshealth.org]
People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows.
[medlineplus.gov]
[…] very large make the mother uncomfortable cause an early delivery Most children with CFC syndrome are born with some unusual facial features, including: a high forehead very thin
[kidshealth.org]
eyebrows, abnormal nasal root (broad/high or other), smooth upper vermillion border, thin upper lip vermillion, retrognathia.
[gene.sfari.org]
TRPS patients generally present slow-growing and sparse scalp hair, medially thick and laterally thin eyebrows, a bulbous pear-shaped nose, a long flat philtrum, a thin upper
[bmcmedgenet.biomedcentral.com]
eyebrows, abnormal nasal root (broad/high or other), large and dysplastic ears, smooth and long philtrum, everted lower lip, thin upper lip vermillion, high narrow palate
[gene.sfari.org]
eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip.
[globalgenes.org]
Her stature was thin, her fingers long and slender.
[nature.com]
[…] intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features that include prominent forehead, high-arched, thin
[globalgenes.org]
Typical facial characteristics of the syndrome include a concave nasal bridge, small nose, thick and long eyebrows, a thin upper lip, and a downward mouth.
[fdna.health]
[…] hair implantation coinciding a widow's peak, neonatal teeth, thin upper lip, everted lower lip, small chin, low-set ears, preauricular fistulas and short neck.
[cags.org.ae]
long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger
[orpha.net]
Those features include prominent forehead, downslanting long palpebral fissures, depressed nasal bridge, broad nasal tip, long philtrum, heavy and broad eyebrows, anterior
[cags.org.ae]
eyebrow, Heart murmur, Varus deformity of humeral neck, Recurrent pneumonia, Wide intermamillary distance, Severe postnatal growth retardation, Progressive alveolar ridge
[fdna.health]
Recurrent respiratory infections, Splenomegaly, Recurrent bronchitis, Thickened calvaria, Short long bone, Death in childhood, Thoracolumbar kyphoscoliosis, Sparse and thin
[fdna.health]
Individuals with Pitt-Hopkins syndrome have distinctive facial features that include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a pronounced double
[medlineplus.gov]
PTHS phenotype is described including craniofacial dysmorphism with brachycephaly, biparietal narrowing, wide nasal bridge, thin and linear lateral eyebrows, palpebral edema
[mdpi.com]
0100716 Telecanthus Corners of eye widely separated 0000506 Thin upper lip vermilion Thin upper lip 0000219 Tricuspid regurgitation 0005180 Ventricular septal defect Hole
[rarediseases.info.nih.gov]
[…] fingers Absent eyebrows Sparse eyebrows Glaucoma Undescended testes Small penis Hypothyroidy Small teeth Peripheral retinal pigmentary changes Sparse scalp hair Absent scalp
[checkorphan.org]
eyebrow Erysipelas Ventriculomegaly Dermal atrophy Hydrocephalus Hyporeflexia Dilatation Cerebellar hypoplasia Coloboma Severe global developmental delay Corneal opacity
[mendelian.co]
[…] hypogonadism includes the 24 symptoms listed below: Scaly skin Pituitary gonadotropic hormone deficiency Secondary hypogonadism Delayed puberty Seizures Short stature Long thin
[checkorphan.org]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 5%-29% of people have these symptoms Abnormal immunoglobulin
[rarediseases.info.nih.gov]
[…] and soles 0000972 Scoliosis 0002650 Short philtrum 0000322 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Sparse and thin
[rarediseases.info.nih.gov]
hands and buttocks by 3-5 years of age Thin eyebrows and sparse scalp hair Abnormal, brittle nails Eyes Cataracts : lens opacities occur in 50% of children aged 3-7 years
[dermnetnz.org]