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20 Possible Causes for High Pitched Voice, Hypertrichosis of Eyebrows, Single Transverse Palmar Crease

  • Rubinstein-Taybi Syndrome

    transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched[ncbi.nlm.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • Opitz-Kaveggia Syndrome

    Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] […] fullness, a wide mouth with full lips, and coarse facial features as well as fifth fingernail hypoplasia, absence of terminal phalanges, hypertrichosis, developmental delay[karger.com] […] umbilical artery, single transverse palmar creases, and hypotonia.[nature.com]

  • Pfeiffer-Palm-Teller Syndrome

    transverse palmar crease Cafe-au-lait spot Otitis media Poor suck Recurrent otitis media Pulmonary arterial hypertension Dental crowding Depressivity Gait disturbance Ataxia[mendelian.co] 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]

  • BOD Syndrome

    transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[mendelian.co] The older sister additionally had a high-pitched voice and eczema on the face and limbs.[ncbi.nlm.nih.gov] […] and eyelash hypertrichosis, diffuse hirsutism and, most typically, hypoplastic to absent fifth finger nails and phalanges (Fig. 39.2), although other fingers and/or toes[cambridge.org]

  • Autosomal Dominant Mental Retardation Type 21

    transverse palmar creases Slow growth; congenital heart defect; thyroid dysfunction; developmental delay, especially speech Chromosome analysis in all patients; chromosome[aafp.org] Patients with FHS tend to have an unusually high-pitched voice.[content.sciendo.com] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org]

  • Baraitser Syndrome

    transverse palmar crease Intestinal malrotation Premature birth Growth hormone deficiency Fine hair Hypoglycemia Macrocephaly Frontal bossing Behavioral abnormality Pes planus[mendelian.co] Cutaneous examination revealed a very fine and sparse scalp hair [Figure 4], facial hypertrichosis particularly over the forehead and temples, dense eyebrows and eyelashes[ijpd.in] At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.[ghr.nlm.nih.gov]

  • Acrorenal Mandibular Syndrome

    transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[quizlet.com] Affected individuals may also have a high-pitched voice. Some individuals may experience delayed sexual maturation.[rarediseases.org] Sparse and thin eyebrow Small nail Large fontanelles Enlarged cochlear aqueduct Dilatated internal auditory canal Incomplete partition of the cochlea type II Atresia of the[mendelian.co]

  • Lamellar Ichthyosis

    transverse palmar creases Abnormality of the fingernails Eczema Reduced bone mineral density Systemic lupus erythematosus Osteomyelitis Psoriasiform dermatitis Abnormality[mendelian.co] pitched voice photodistributed erythema Bloom syndrome has increased risk for which cancer?[brainscape.com] , low nasal bridge, hypertrichosis late onset decreased immunoglobulins IgA, IgG, IgM; autoimmune diseases, alopecia areata, chronic giardiasis, eczema, recurrent otitis media[readbag.com]

  • SHORT Syndrome

    transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] […] subluxation of lens Homocysteine and methionine measurements, dilated eye examination Klinefelter syndrome (XXY) Delayed puberty; infertility; small, firm testes; gynecomastia; high-pitched[aafp.org] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com]

  • Char Syndrome

    The syndrome may also include various dermatoglyphics , including transverse flexion creases, distal axial triradius, increased whorls and arches on digits and a single palmar[en.wikipedia.org] At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time.[ghr.nlm.nih.gov] The syndrome may also include various dermatoglyphics, including transverse flexion creases, distal axial triradius, increased whorls and arches on digits and a single palmar[en.wikipedia.org]

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