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50 Possible Causes for High Pitched Voice, Hypoplastic Toenails

  • Dubowitz Syndrome

    toenails Underdeveloped toenails 0001800 Joint hyperflexibility Joints move beyond expected range of motion 0005692 Lymphoma Cancer of lymphatic system 0002665 Malabsorption[] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[]

  • BOD Syndrome

    toenails Underdeveloped toenails 0001800 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head[] The older sister additionally had a high-pitched voice and eczema on the face and limbs.[] Brachydactyly Delayed skeletal maturation Fingernail dysplasia Hypoplastic fifth fingernail Hypoplastic toenails Long philtrum Microcephaly Short distal phalanx of toe Toenail[]

  • Pfeiffer-Palm-Teller Syndrome

    toenails Chronic otitis media Nevus flammeus Abnormality of the neck Loss of consciousness Down-sloping shoulders Blue irides Celiac disease Large earlobe Chronic constipation[] 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.[]

  • Laron Syndrome with Immunodeficiency

    toenails Overfolded helix Patent foramen ovale Nasal speech Deep philtrum Relative macrocephaly Coarse hair Low-set, posteriorly rotated ears Umbilical hernia Fetal akinesia[] Patients may have a high-pitched voice and present truncal obesity.[] 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.[]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    toenails Oligodontia Abnormal trabecular bone morphology Epidermal acanthosis Sparse scalp hair Abnormality of the skin Dry skin Congenital sensorineural hearing impairment[] pitched voice Multiple joint contractures Lipoatrophy Hypergonadotropic hypogonadism Aortic valve stenosis Decreased serum estradiol Keratoconjunctivitis Corneal scarring[] […] abnormality of skin Dry hair Cellulitis Anodontia Recurrent skin infections Hemiplegia/hemiparesis Blepharitis Epiphora Sparse body hair Anonychia Abnormality of dental morphology Hypoplastic[]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Physical features can include an abnormally shaped head with a prominent occiput, low-set ears, micrognathia, short sternum, characteristic clenched fists, hypoplastic toenails[] Widely spaced nipples, reduced carrying angle at the elbow, and sparse body hair An IQ of 25 to 70, low nasal bridge, protruding tongue, and flat, low-set ears High-pitched[] Examination at 7.5 months showed a small infant with an unusual high-pitched voice, length 57 cm, weight 4.5 kg and OFC 35.5 cm (all rd centile).[]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    toenails Polydactyly Aplasia/Hypoplasia of the eyebrow Umbilical hernia Freckling Retinopathy Cafe-au-lait spot Narrow mouth Accelerated skeletal maturation Optic nerve hypoplasia[] Aynaci F M - - 2001 We describe a male newborn with bilateral angle bowing of femora, absent fibulae, aplasia of the fingernails, hypoplastic toenails, malformed thumbs, hypospadias[] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[]

  • Baraitser Syndrome

    […] or absent fifth fingernails or toenails.[] Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic[] Abnormality of the fingernails Narrow face Chronic diarrhea Wide anterior fontanel Broad thumb Sloping forehead Abnormality of skin pigmentation Malabsorption Protruding ear Hypoplastic[]

  • Choanal Atresia

    At the age of 2.5 years, he had moderate global developmental delay, short, wide and tapering fingers, and short toes with hypoplastic toenails.[] Use a high-pitched voice, gentle touch, hugs, and kisses.[] […] broad nasal bridge, telecanthus, downward slanting palpebral fissures, prominent ears, mild bilateral clinodactyly of the 5th fingers and bilateral hypoplasia of the 2nd-5th toenails[]

  • Legius Syndrome

    toenails, arthrogryposis, hypotonia, GDD - 46,XX,add(9)( p24) dup9p P230 5.1 MB 22. 8y Obesity, FD, hypotonia, mild ID, speech delay - 46,XX,add(5)( p15.1) del5p P358 P358[] Key characteristics of Bloom syndrome are: Growth deficiency Immunodeficiency Malignancies Predilection to diabetes Distinctive narrow facies High-pitched voice Hypogonadism[] […] kb* 20. 3y Short stature, microcephaly, FD, umbilical hernia, GDD - 46,XY,add(18) (q22) del18q P320 5.2 Mb dup5p P358 13.9 Mb y FD, short neck, CHD, rocker-bottom feet, hypoplastic[]

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