People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose.
[diseaseinfosearch.org]
Other characteristics include a high-pitched voice, dilated blood vessels appearing on the skin and in the eyes, hyper- and hypo-pigmentation, infertility in males due to
[brighthub.com]
Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,
[cancer.gov]
Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.
[ncbi.nlm.nih.gov]
[…] hoarse voice.
[ncbi.nlm.nih.gov]
[…] psychological status of ten people with the Dubowitz syndrome, an autosomal recessive condition characterized by intrauterine and postnatal growth retardation, microcephaly, and high-pitched
[ncbi.nlm.nih.gov]
The patient had short stature and high-pitched voice with the same characteristic craniofacial features as his sibling. Psychomotor development was normal.
[academic.oup.com]
161 cm for males and from 126 to 151 cm for females Delayed puberty Hands and feet appear relatively large in relation to body Intrauterine growth deficiency Performance High-pitched
[datagenno.com]
pitched voice, delayed puberty, insulin resistance with type 2 diabetes, and an increased risk for Wilm’s tumor.
[sema4.com]
She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.
[termedia.pl]
pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality
[rarediseases.info.nih.gov]
[…] these symptoms Ectopic kidney Abnormal kidney location Displaced kidney [ more ] 0000086 Scoliosis Abnormal curving of the spine 0002650 1%-4% of people have these symptoms High
[rarediseases.info.nih.gov]
[…] sounds 0001618 High pitched voice 0001620 Limb ataxia 0002070 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Palatal myoclonus 0010530 Postural tremor 0002174
[rarediseases.info.nih.gov]
[…] who have these symptoms is not available through HPO Adult onset Symptoms begin in adulthood 0003581 Autosomal dominant inheritance 0000006 Dysphonia Inability to produce voice
[rarediseases.info.nih.gov]
Affiliated tissues include heart, cerebellum and kidney, and related phenotypes are ectopic kidney and high pitched voice Disease Ontology : 12 A Seckel syndrome that has
[malacards.org]
High pitched voice Growth abnormality Growth delay Short stature Small for gestational age IMPORTANT NOTE: NIH does not independently verify information submitted to the
[ncbi.nlm.nih.gov]
pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality
[rarediseases.info.nih.gov]
Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.
[mendelian.co]
[…] palate, Hypergonadotropic hypogonadism, Hyperextensible skin, High pitched voice, Joint hypermobility, Muscular hypotonia, Prolonged bleeding time, Umbilical hernia, Sparse
[fdna.health]
Brachydactyly, Coarse facial features, Downslanted palpebral fissures, Cutis laxa, Decreased body weight, Cryptorchidism, Gingival overgrowth, Short stature, Ichthyosis, High
[fdna.health]
[…] such as progeroid appearance, microcephaly, short stature, diffuse multiple pigmented nevi on the face and trunk (Figure 1a and b), sleep disorder, sensorineural deafness, high-pitched
[nature.com]
[…] physical differences, such as: Short height Low weight compared to their height Lack of strength A thick trunk and thin limbs Shorter/thinner vocal cords that result in a high-pitched
[verywellhealth.com]
The abnormal structures in the face may be the reason these patients often have a high pitched voice (reported in 9 cases).
[rarediseases.org]
which retained a childlike and other-worldly flexibility and treble pitch (a high-pitched voice).
[en.wikipedia.org]
[…] in a rebellion against Qin Shi Huang.[102] Castrato singers[edit] Eunuchs castrated before puberty were also valued and trained in several cultures for their exceptional voices
[en.wikipedia.org]
Affected individuals may also have a high-pitched voice. Some individuals may experience delayed sexual maturation.
[rarediseases.org]
A small larynx (due to the reduced growth of cartilage) can mean the voice is likely to remain high pitched (even in boys after puberty).
[en.wikipedia.org]
pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypospadias 0000047
[rarediseases.info.nih.gov]
[…] bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Global developmental delay 0001263 Gray matter heterotopia 0002282 High
[rarediseases.info.nih.gov]
Gonadotropin deficiency frequently manifests in puberty, when boys present with eunuchoid body proportions but normal height, a high-pitched voice, prepubertal testes, and
[symptoma.com]
Here, boys present with eunuchoid body proportions, a high-pitched voice, prepubertal testes, and delayed penile growth, while lack of menstrual bleeding is the clinical hallmark
[symptoma.com]
They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH
[ncbi.nlm.nih.gov]
Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature
[ncbi.nlm.nih.gov]
Genitalia : Small gonads and external genitalia Other features : include neonatal hypoglycaemia, high pitched voice, decreased sweating.
[genetics4medics.com]
Article Access Statistics Viewed 7077 Printed 202 Emailed 9 PDF Downloaded 182 Comments [Add] Cited by others 2 Click on image for details. CASE REPORT Year : 2004 | Volume : 52 | Issue : 4 | Page : 496-498 Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama[…]
[neurologyindia.com]
Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus.
[whonamedit.com]
pitched voice ; Hip contracture ; Hyporeflexia ; Inguinal hernia ; Intellectual disability ; Joint contracture of the hand ; Kyphoscoliosis ; Long eyelashes in irregular
[mousephenotype.org]
[…] vertebrae ; Coxa valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High
[mousephenotype.org]
[…] quality most evident during high pitched voice productions, respectively.
[ncbi.nlm.nih.gov]
Character of a patient with Unilateral Recurrent Laryngeal Nerve Injury weak voice high pitched voice air wasting voice frustrated Talkativeness scale: whole range
[medicalgeek.com]
Deviation of the petiole of the epiglottis to the side of cricothyroid weakness during extreme high pitch voice is a relatively new diagnostic laryngoscopic sign of EBSLN
[omicsonline.org]
Pfeiffer-Palm-Teller syndrome is a very rare dysmorphic syndrome described in two sibs and characterized by a short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched
[malacards.org]
FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: PPT syndrome, Short stature unique facies enamel hypoplasia progressive joint stiffness and high-pitched
[rareguru.com]
A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressive stiffness of the joints, and high-pitched voice in two siblings. J.
[omim.org]
Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched
[datagenno.com]
Short stature Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features
[littlepeopleuk.org]
voice Intelligence normal Mental retardation Skeletal Angular scaphoid and trapezium bones (in some patients) Bowed short femora Bowed tibiae Brachymesophalangy (in some
[datagenno.com]
The patient had a high-pitched voice, hoarseness, a characteristic bird-like facial appearance with a beak-shaped nose, canities and juvenile cataracts.
[ncbi.nlm.nih.gov]
Although our APS/AWS patient had overlapping features with Werner syndrome (WS), such as high-pitched voice, scleroderma, lipoatrophy and atherosclerosis, several cardinal
[ncbi.nlm.nih.gov]
voice, and flat feet.
[ommbid.mhmedical.com]
[…] ageing of the face, sunken cheeks, small jaw Small stature (usually less than 1.6m tall), muscle weakness Thickened, tight and shiny skin over joints, leading to ulcers High-pitched
[dermnetnz.org]
[…] atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked nose and high-pitched
[ncbi.nlm.nih.gov]
Patients may also have hyperextensibility, hernias, scoliosis and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.
[exeterlaboratory.com]
Hyperextensibility, hernias and scoliosis reflect a connective tissue abnormality, and aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis may be present
[ncbi.nlm.nih.gov]
Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.
[malacards.org]
The sibs showed the typical clinical features of Laron syndrome: they were very short and obese, had acromicria, small genitalia (in the boys), and a high-pitched voice.
[cags.org.ae]
Patients may have a high-pitched voice and present truncal obesity.
[symptoma.com]
A high-pitched voice may also be present and obesity is common in the adults, especially women.
[rarediseases.org]
pitched voice; Hydrocephalus; Microdontia; Micrognathia; Midface retrusion; Orbital craniosynostosis; Osteopenia; Recurrent fractures; Scoliosis; Shallow orbits; Short stature
[mousephenotype.org]
Normal neurologic development has been reported, but abnormal crying (high-pitched voice), and gait and generalized hypotonia are common.
[accessanesthesiology.mhmedical.com]
FEATURES Classification bone, developmental, eye, genetic Phenotypes Autosomal dominant inheritance; Communicating hydrocephalus; Coronal craniosynostosis; Frontal bossing; High
[mousephenotype.org]
high-pitched, coarse voice Chest Ribs Sternum Clavicles And Scapulae: pectus excavatum thickened clavicles Head And Neck Face: long philtrum round face midface hypoplasia
[malacards.org]
pitched voice 0001620 Hoarse voice Hoarseness Husky voice [ more ] 0001609 Hypoplastic iliac wing 0002866 Malar flattening Zygomatic flattening 0000272 Midface retrusion
[rarediseases.info.nih.gov]
[…] stature, disproportionate short limb Head And Neck Mouth: large mouth thick lower lip Skeletal Pelvis: hypoplastic iliac wings Growth Other: growth retardation, progressive Voice
[malacards.org]
[…] physical traits including: A bigger head Large eyes A small lower jaw A thin nose with a "beaked" tip Ears that stick out Veins you can see Slow and abnormal tooth growth A high-pitched
[webmd.com]
[…] tightening of skin on trunk and extremities (scleroderma) Loose, aged-looking skin Head too large for face Prominent scalp veins Prominent eyes Small lower jaw (micrognathia) High-pitched
[knowyourdisease.com]
[…] resistance • Hip dislocation • Stiff joints • Muscles and body fat are diminished • Abnormal and delayed formation of the tooth • Micrognathia or the lower jaw is smaller • High-pitched
[myhealthyfeeling.com]
[…] characteristics; i.e., a fully or mostly feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty), high-pitched
[en.wikipedia.org]
The physical characteristics include: normal facial features, childlike high pitched voice, proportioned body, and abnormal genitalia.
[howlingpixel.com]
voice, sparse facial hair, hypogonadism (dysfunctional gonads ), oligozoospermia (low sperm count ), small testes, micropenis (an ususually small penis), advanced bone maturation
[ipfs.io]
If you have presbycusis, you may experience: Cannot hear soft or high-pitched voices. Not understanding words, especially when there is background noise.
[lifehearinghealth.com]
Low-pitched voices seem easier to hear than high-pitched voices 6. You hear ringing or buzzing sounds in your ears (tinnitus) How is age-related hearing loss treated?
[hiddenhearing.co.uk]
A high-pitched voice was alsonoted.
[documents.tips]
[…] relatively small face, prominent eyes and scalpveins, very sparse to absent scalp hair, absent eyebrowsand lashes, a patent anterior fontanelle, centrofacial cy-anosis, high-pitched
[documents.tips]
voice, thin lips, protruded ears, anda beaked nose with sculptured tip.
[documents.tips]
[…] abnormality – it can be weak or high pitched Recurrent chest infections Hoarse voice Crying abnormality – soft, weak or absent Barking cough Respiratory distress Wheezing
[kingscollegehospitaldubai.com]
Signs and symptoms of Laryngeal Web Abnormal cry (weak, soft or absent) Abnormal voice (high pitched or weak) Chest infections Croup (barking cough) Hoarseness Shortness of
[jewelautismcentre.com]
High pitched voice MedGen UID: 66836 •Concept ID: C0241703 • Finding An abnormal increase in the pitch (frequency) of the voice.
[ncbi.nlm.nih.gov]
High pitched voice Ear malformation Hearing impairment Growth abnormality Cachexia Failure to thrive Severe short stature Etiology Mori T, Yousefzadeh MJ, Faridounnia M,
[ncbi.nlm.nih.gov]
[…] subcutaneous fat Corneal scarring Microcephaly Scoliosis Abnormality of the nervous system Intellectual disability, mild Poor coordination Ventriculomegaly Abnormality of the voice
[ncbi.nlm.nih.gov]
