Bloom Syndrome
People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]
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]
Reddened areas can also be seen on other areas which are exposed to the sun, such has hands. a high pitched voice changes in the shape of the face, such as a long face and[medic8.com]
Dubowitz Syndrome
Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov]
Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.com]
Mulibrey Nanism Syndrome
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 * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org]
Characteristic features also include yellowish dots in the retinal mid peripheral region, a high-pitched voice and cutaneous naevi flammei.[orpha.net]
Congenital Muscular Dystrophy
BMJ Case Rep. 2014 Mar 6;2014. pii: bcr2013202684. doi: 10.1136/bcr-2013-202684. Author information 1 Department of Paediatrics, Kasturba Medical College, Manipal University, Udupi, Karnataka, India. Abstract A 6-year-old boy born by a third-degree consanguineous marriage presented with progressive muscle weakness and[…][ncbi.nlm.nih.gov]
Spinocerebellar Ataxia Type 20
Handb Clin Neurol. 2012;103:567-73. doi: 10.1016/B978-0-444-51892-7.00038-3. Author information 1 Department of Medicine (Neuroscience), Monash University (Alfred Hospital Campus), Melbourne, Australia. elsdon.storey@med.monash.edu.au Abstract Spinocerebellar ataxia type 20 (SCA20), first reported in 2004, is a slowly[…][ncbi.nlm.nih.gov]
X-linked Hypogonadotropic Hypogonadism without Anosmia
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]
Eunuchism
EUdict (European dictionary) is a collection of online dictionaries for the languages spoken mostly in Europe. These dictionaries are the result of the work of many authors who worked very hard and finally offered their product free of charge on the internet thus making it easier to all of us to communicate with[…][eudict.com]
Pfeiffer-Palm-Teller Syndrome
Voice Annotation Sufficiency: ?[monarchinitiative.org]
Teller: A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressing stiffness of the joints and high-pitched voice in two siblings.[whonamedit.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]
Hypogonadism
Adolescent boys with hypogonadism typically have undeveloped muscles and genitals, a high-pitched voice, and little or no body hair.[patients.uroweb.org]
A high-pitched voice, breasts, little body hair, and smaller muscle mass are all things typically associated with women.[study.com]
Microcephalic Osteodysplastic Primordial Dwarfism Type II
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]