Spoon shaped White spots Hair Sparse Thin Slow growing Thin eyebrows Neurological Low muscle tone in infancy (hypotonia) Normal intelligence Voice Deep Diagnosing Trichorhinophalangeal
[nfed.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]
Homepage Rare diseases Search Search for a rare disease Disease definition A rare genetic disease characterized by sparse scalp hair, lateral thinning of eyebrows, mild facial
[orpha.net]
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]
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 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]
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]
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 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]
Dysmorphic features included hypertrichosis, thick eyebrows/prominent supra-orbital ridges, thin upper or thick lower vermillion and upturned nose, suggesting overlap with
[frontiersin.org]
thin lips, and a triangular face with widely spaced eyes.
[frontiersin.org]
[…] individuals were not consistent, and included synophrys, mild hypertelorism, broad and high nasal bridge, micrognathia, maxillary overbite, round face with deep-set eyes, bushy eyebrows
[frontiersin.org]
highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae.[4]
[en.wikipedia.org]
[…] and upturned eyebrows, posteriorly rotated ears, flat nasal bridge, low hanging columella, thin upper lip, downturned corners of mouth and breast hypertelorism.
[bmcpediatr.biomedcentral.com]
Both sisters have somewhat unusual eyebrow configuration, abnormal nasal alae, and thin upper lips.
[eje.bioscientifica.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]
eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Squamous cell carcinoma 0002860 Trichiasis Ingrown
[rarediseases.info.nih.gov]
[…] dystrophy Poor nail formation 0008404 Pes cavus High-arched foot 0001761 Recurrent corneal erosions Recurrent breakdown of clear protective layer of eye 0000495 Sparse and thin
[rarediseases.info.nih.gov]
Herein, we reported a 3-year-old girl evaluated for facial dysmorphism (long and connected eyebrows, big mouth, wide nasal bridge, high palatine arch, low set ears, and thin
[go.gale.com]
People with cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse or absent eyelashes and eyebrows.
[medlineplus.gov]
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]
She had triangular face, microcephaly, thin hairs, arched eyebrows, blepharophimosis, broad nasal bridge and slight superior lip.
[ec.bioscientifica.com]
[…] palm - Syndactyly of toes Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormally placed nipples - Absent / decreased / thin
[csbg.cnb.csic.es]
eyebrow Sparse eyelashes Very frequently present symptoms in 80-99% of the cases: Bilateral cleft lip and palate Ectodermal dysplasia Finger syndactyly Macrotia Macrotia
[dovemed.com]
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 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]
brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both
[orpha.net]
[…] syndrome Disease definition Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin
[orpha.net]
[…] 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]
[…] 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]
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]
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]
The facial phenotype included prominent forehead, hypertelorism, high anterior hairline, thin eyebrows, mild synophrys, anteverted nostrils with hypoplastic alae nasi, high-arched
[elsevier.es]
Her stature was thin, her fingers long and slender.
[nature.com]
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]
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]
Though PTHS patients often have characteristic facial features such as a narrow forehead, thin lateral eyebrows, wide nasal bridge, ridge, or tip, flared nasal alae, full
[jtggjournal.com]
Head and neck anomalies may include microcephaly, broad forehead, alopecia, thin eyebrows, overfolded (“crumpled”) ears with dysplastic helices, flat midface with flat nose
[accessanesthesiology.mhmedical.com]
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]
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]
[…] including eyelid ptosis, arched eyebrows, a thin upper lip, angulated ears, coarse hair, and micrognathia. f, g Same individuals at the age of 4 years with similar facial
[karger.com]
Craniofacial features include widely spaced eyes with downslanted palpebral fissures, highly arched eyebrows, ptosis, malar flattening, long philtrum, thin vermilion of the
[ncbi.nlm.nih.gov]
[…] features. h, i Individual at the age of 6 years with facial characteristics including eyelid ptosis, arched eyebrows, a thin upper lip, angulated eyes, and flattening of
[karger.com]
