fine hair Thin with decreased number of sweat pores
[datagenno.com]
Symptoms - Rapp-Hodgkin syndrome * Thin skin * Reduced number of sweat pores * Sparse hair * Fine hair * Pili canaliculi * Small nails * Missing teeth * Small teeth * Conical
[checkorphan.org]
Sparse, fine hair (hypotrichosis) Can be brittle, coarse or wiry with pili torti Patchy alopecia (lack of hair) Eyebrows, eyelashes and body hair may also be sparse or absent
[nfed.org]
Hair: brittle hair sparse, fine hair slow-growing hair absent cuticular scale narrow hair shaft more Head And Neck Teeth: hypodontia shell teeth peg-shaped teeth Clinical
[malacards.org]
The features of trichodental syndrome were observed in a young female in which sparse, fine, lustreless and slow growing hairs were associated with bigeminismus of inferior
[moh-it.pure.elsevier.com]
sparse hair missing or small teth small spoon shaped nails toenails
[cram.com]
Fine hair MedGen UID: 98401 •Concept ID: C0423867 • Finding Hair that is fine or thin to the touch.
[ncbi.nlm.nih.gov]
Stiff skin MedGen UID: 478445 •Concept ID: C3276815 • Finding An induration (hardening) of the skin Sparse hair MedGen UID: 1790211 •Concept ID: C5551005 • Finding Reduced
[ncbi.nlm.nih.gov]
hair Sparse hair Stiff skin Thickened skin Abnormality of the musculoskeletal system Broad ribs Camptodactyly Cone-shaped epiphysis Enlarged vertebral pedicles Generalized
[ncbi.nlm.nih.gov]
Definition An inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic
[uniprot.org]
Disease definition Hawkinsinuria is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion
[orpha.net]
fine hair, pear-shaped nose and variable growth retardation.
[ncbi.nlm.nih.gov]
Abstract The tricho-rhino-phalangeal syndrome is characterized by sparse fine hair, bulbous nose, and brachydactyly.
[ncbi.nlm.nih.gov]
On examination, frontotemporal alopecia was observed with fine, sparse hair on other part of the scalp.
[ijpd.in]
fine sparse hair.
[wikidata.org]
It is characterized by disproportionate short stature, fine sparse hair, ligamentous laxity, hematological abnormalities with anemia, a predisposition to malignant tumors,
[ncbi.nlm.nih.gov]
[…] by disproportionate short stature, fine and sparse hair, deficient cellular immunity and a predisposition to malignancy.
[ncbi.nlm.nih.gov]
The typical patient is a child with sparse fine hair that can easily be pulled out.
[ncbi.nlm.nih.gov]
LAS should be suspected in people with sparse fine hair that is able to be painlessly removed from the scalp without effort, and often tangled hair at the back of the head
[aocd.org]
The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing.
[rasopathiesnet.org]
She has short stature, microcephaly, broad forehead with high hair implantation; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair, synophris; ocular
[ncbi.nlm.nih.gov]
She has short stature, microcephaly, broad forehead with high hair implantation, central verticil; sparse and fine hair, areas of alopecia; arched eyebrows with upturned hair
[ashg.org]
[…] anhidrotic type of ectodermal dysplasia resulting in the absence of sweating, febrile episodes, recurrent pulmonary infections, conical and missing teeth, scaly skin and fine
[ncbi.nlm.nih.gov]
The infant was noted to have mildly xerotic skin, fine sparse hair, and periorbital wrinkling, all features suggestive of ectodermal dysplasia.
[ncbi.nlm.nih.gov]
A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the
[ncbi.nlm.nih.gov]
Scalp hair may be sparse, short, fine, dry, or there may be a complete absence of hair.
[ncbi.nlm.nih.gov]
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 fine vellus hair was noted over the eyebrow with generalized hypotrichosis. Short and sparse eyelashes were also noted. Axillary and pubic hair was not developed.
[ijpd.in]
Thin body hair Fine scalp hair Thin scalp hair Sparse scalp hair (in some patients) Hairs can be painlessly plucked with little force.
[nfed.org]
Thin body hair Fine scalp hair Thin scalp hair Sparse scalp hair (in some patients) Hairs can be painlessly plucked with little force.
[nfed.org]
sparse hair, eyebrows and eyelashes.
[omicsonline.org]
In infancy, she had sparse and fine scalp hair and abnormal nails. Her hair remained sparse despite various treatments and she became totally bald at the age of 4 years.
[ijdvl.com]
Other features of this syndrome include intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia, cerebral
[cags.org.ae]
Revesz syndrome An extremely rare condition (OMIM:268130) characterised by bilateral exudative retinopathy, intrauterine growth retardation, fine sparse hair, reticulated
[medical-dictionary.thefreedictionary.com]
The features of the seemingly syndrome were intrauterine growth retardation, fine sparse hair, fine reticulate skin pigmentation, ataxia because of cerebellar hypoplasia,
[cags.org.ae]
[…] and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
[rarediseases.info.nih.gov]
[…] rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine
[rarediseases.info.nih.gov]
(unknown) - - 0 - - CHIME;GPIBD5 She presented craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma,
[databases.lovd.nl]
Clinical signs can involve skin (early onset of migratory ichthyosiform dermatosis, sparse fine hair, thick palms and soles), head (brachycephaly, flat and broad nasal root
[accessanesthesiology.mhmedical.com]
Characteristic facial features include brachycephaly; fine, sparse hair; hypertelorism; epicanthal folds; small, low set or cupped ears; flat, broad nasal root and tip; short
[dnatesting.uchicago.edu]
Other frequent features include sparse, fine hair and abnormal nails.
[ncbi.nlm.nih.gov]
These syndromes may include: Sparse, fine hair on the head, eyebrows, and lashes Missing or cone-shaped teeth Typical facial features including protuberant forehead, flattened
[bundoo.com]
Sparse fine vellus hair was noted over the eyebrow with generalized hypotrichosis. Short and sparse eyelashes were also noted. Axillary and pubic hair was not developed.
[ijpd.in]
sparse hair, eyebrows and eyelashes.
[omicsonline.org]
The clinical features include sparse, fine hair, missing or conical-shaped teeth, decreased sweat and mucous glands, hypoplastic skin, and heat intolerance with exercise or
[amsdottorato.unibo.it]
View an Insights Newsletter outlining treatment for Congenitally Missing Teeth Hair: The scalp hair is absent, sparse, fine, lightly pigmented, or abnormal in texture.
[dentalimplants-usa.com]
Yellow-orange thick skin on palms and soles Fine, dry, sparse, slow growing hair Eyes Small cornea Small eyes Short opening between the eye lids Skin fold of the upper eyelid
[nfed.org]
Costello syndrome: Characterized by growth problems, developmental delay or intellectual disability, coarse facial features, curly or sparse fine hair, soft skin with deep
[aafp.org]
In addition to cone-shaped epiphyses (zapfenepiphysen), these individuals have sparse, fine hair and a somewhat pear-shaped nose.
[jamanetwork.com]
On examination, frontotemporal alopecia was observed with fine, sparse hair on other part of the scalp.
[ijpd.in]
Salient Features 2-6 TRPS I Hair : Sparse, fine, slow growing and brittle scalp hair. Eyebrows sparse laterally. Facial features : Pear shaped nose with bulbous tip.
[genetics4medics.com]
[…] 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); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481)
[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]
[…] clenching Abnormality of the eye Cataract Myopia Optic atrophy Visual impairment Abnormality of the integument Brittle hair Fine hair Sparse eyelashes Sparse hair Abnormality
[ncbi.nlm.nih.gov]
Fine hair MedGen UID: 98401 •Concept ID: C0423867 • Finding Hair that is fine or thin to the touch.
[ncbi.nlm.nih.gov]
[from OMIM] Show allHide all Abnormality of head or neck Depressed nasal bridge Narrow forehead Short nose Sparse eyebrow Triangular mouth Abnormality of limbs Clubfoot Hand
[ncbi.nlm.nih.gov]
Those affected had Figure 2 Family 1, III.4, showing the sparse,fine scalp hair.
[doczz.net]
[…] scalp hair Fine hair Hypertelorism Abnormal nasolacrimal system morphology Cleft upper lip Microcephaly Scoliosis Renal agenesis Microphthalmia Severe short stature Strabismus
[mendelian.co]
The ectodermal features consisted of fine and sparse hair, thin and opalescent nails, finger tip pads, generalized cutaneous pigmentation, but no hyperkeratosis.
[genome.jp]
Clinical aspects Hypotrichosis: fine, sparse head hair; sparse eyelash and eyebrows. Hypodontia: early loss of decidual teeth; few permanent teeth.
[accesspediatrics.mhmedical.com]
Hypotrichosis: fine, sparse head hair; sparse eyelash and eyebrows. Hypodontia: early loss of decidual teeth; few permanent teeth.
[accessanesthesiology.mhmedical.com]
There was diffuse fine scaling over the scalp with sparseness of hair. The body hair and sweating were normal. Ophthalmologic examination did not reveal any abnormality.
[ncbi.nlm.nih.gov]
Christ-Siemens-Touraine syndrome - congenitally defective or absent sweat glands, smooth, finely wrinkled skin, sunken nose, malformed and missing teeth, sparse fragile hair
[medical-dictionary.thefreedictionary.com]
Yellow-orange thick skin on palms and soles Fine, dry, sparse, slow growing hair Eyes Small cornea Small eyes Short opening between the eye lids Skin fold of the upper eyelid
[nfed.org]
[…] abnormalities, including: dry, brittle hair generalized depigmentation of hair fine hair sparse hair, or alopecia areata Teeth abnormalities in affected individuals may include
[encyclopedia.com]
hair, Supernumerary nipple, Sparse or absent eyelashes, Fine hair, Sparse ...
[mousephenotype.org]
ORPHA:235 Hallermann-Streiff Syndrome Sparse scalp hair, Sparse hair, Sparse eyebrow, Sparse eyelashes, Fine hair OMIM:234100 Iniencephaly Myelomeningocele, Hydrocephalus,
[mousephenotype.org]
Hypoplasia Fair hair, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse facial hair, Fine hair OMIM:250250 Aase-Smith Syndrome I Hydrocephalus, Dandy-Walker malformation
[mousephenotype.org]
[…] upsweep * Widely spaced eyes * Prominent lower lip * Small ears * Simple ears * Face wrinkles * Fine hair * Sparse hair * Epicanthal folds * Short space between eyelids *
[checkorphan.org]
[…] span * Affable personality * Extroverted personality * Temper tantrums when frustrated * Short stature * Large head * Large anterior fontanel * Prominent forehead * Frontal hair
[checkorphan.org]
There were no skull abnormalities, and the hair was sparse, very fine and blonde.
[analesdepediatria.org]
The child had very fine and sparse hair, and the lower limbs appeared disproportionately shorter than the upper limbs.
[karger.com]
It is a multi-systemic disorder characterized by short stature, blond fine sparse hair, but this may be quite variable, and defective cellular immunity predominantly affecting
[atlasgeneticsoncology.org]
Children with CFC Syndrome usually have sparse, slow growing, fine or thick, curly scalp hair that is abnormally dry and brittle.
[rarediseases.org]
Skin, hair and nails Most patients have some kind of ectodermal abnormality, either of skin, hair or nails.
[rarediseases.org]
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]
The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing.
[rasopathiesnet.org]
[…] findings such as sparse, curly, fine or thick, woolly, or brittle hair, and possible absent eyelashes and eyebrows; and the nails may be dystrophic or fast growing.
[egl-eurofins.com]
fine hair, facial and/or perianal papillomata, loose soft skin with deep palmar and plantar creases, and developmental delay/ intellectual disability.
[chginc.org]
