Create issue ticket

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[] (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched[] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[]

  • Opitz-Kaveggia Syndrome

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

  • 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[] Voice Annotation Sufficiency: ?[] Teller: A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressing stiffness of the joints and high-pitched voice in two siblings.[]

  • BOD Syndrome

    transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[] The older sister additionally had a high-pitched voice and eczema on the face and limbs.[] […] 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[]

  • 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[] Patients with FHS tend to have an unusually high-pitched voice.[] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[]

  • Baraitser Syndrome

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

  • Acrorenal Mandibular Syndrome

    transverse palmar crease - Pelvic dysplasia Other feats: Craniofacial - brachycephaly, flat occiput, prominent epicanthal folds, speckled irises (Brushfield spots), 3 fontanelles[] Affected individuals may also have a high-pitched voice. Some individuals may experience delayed sexual maturation.[] 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[]

  • Lamellar Ichthyosis

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

  • SHORT Syndrome

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

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

Similar symptoms