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10 Possible Causes for Elbow Contracture, Nasal Voice, Round Face in Infancy

  • Cold-Induced Sweating Syndrome Type 1

    He has bilateral elbow and bilateral finger contractures.[neurology.org] face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing[forgottendiseases.org] Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity[orpha.net]

  • Optic Atrophy-Intellectual Disability Syndrome

    contracture Abnormal tibial torsion Hand dysfunction Kyphosis Lordosis Scoliosis Femoral retroversion Torticollis Hip dysplasia Hip contractures Hallux valgus Knee contractures[pediatrics.aappublications.org] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] A nasal tone to the voice and weakness of coughing are early signs of damage to these nerves.[britannica.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    There may be hyperextensibility of wrist and interphalangeal joints but contractures of elbow and knee.[nature.com] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] Hoarse voice ... bowel/bladder diverticulae, rectal prolapse, joint limitation or laxity ... lax skin ... some degree of mental retardation ...[ibis-birthdefects.org]

  • Cold-Induced Sweating Syndrome Type 2

    […] of the elbows.[nature.com] face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing[forgottendiseases.org] Clinical description Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity[orpha.net]

  • Syndactyly - Polydactyly - Ear Lobe Syndrome

    […] flexion contracture Opisthotonus Limited elbow extension 2-3 toe syndactyly Cubitus valgus Radial deviation of finger Poor suck Sensorimotor neuropathy Sparse scalp hair[mendelian.co] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] arachnodactyly Congenital deformities of fingers Congenital deformities of limbs Congenital elbow dislocation, bilateral Congenital elbow dislocation, unilateral Congenital[se-atlas.de]

  • Conductive Deafness - Ptosis - Skeletal Anomalies Syndrome

    […] synostosis Clinodactyly of the 5th fingers Large joint contractures Camptodactyly “Hockey stick” palmar creases (link leads to Google images) Testing Sensory Testing Assess[medicalhomeportal.org] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] […] deletion syndrome aka velo-cardio facial syndrome/DiGeorge syndrome Gene: 22q11.2 deletion Inheritance: AD (14% inherited) very variable expressivity Clinical feat: hyper nasal[quizlet.com]

  • Marfanoid Habitus with Situs Inversus

    Overfolded helix Dolichocephaly Postnatal growth retardation Elbow flexion contracture Ectopia lentis Clubbing Abnormality of the genital system Widely spaced teeth Sacral[mendelian.co] Prominent metopic ridge Failure to thrive in infancy Spastic diplegia Cupped ear Poor suck Abnormal hair laboratory examination Midface retrusion Nasal speech Pyloric stenosis[mendelian.co] […] bridge Macroorchidism Long nose Mania Emotional lability Schizophrenia Abnormality of the voice Abnormality of the genitourinary system Impaired social interactions Aplasia[mendelian.co]

  • Kondoh Syndrome

    In addition, she had hearing loss and mild flexion contracture of the right elbow.[genome.jp] In infancy, the face is round with disproportionate prominence of forehead and become longer in adolescence, with prominence of the pointed chin.[ojrd.biomedcentral.com] His voice feature could not be con-firmed because of his tracheotomy. He became progressivelymicrocephalic.[dokumen.tips]

  • Thyro-Cerebro-Renal Syndrome

    […] extension Clubbing Esophagitis Hemangioma Low posterior hairline High myopia Blue sclerae Hypertrichosis Long eyelashes Elbow flexion contracture Aspiration Proximal placement[mendelian.co] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] A nasal tone to the voice and weakness of coughing are early signs of damage to these nerves.[britannica.com]

  • X-Linked Syndromic Mental Retardation Type 12

    […] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1[ojrd.biomedcentral.com] A nasal tone to the voice and weakness of coughing are early signs of damage to these nerves.[britannica.com] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com]

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