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529 Possible Causes for Hypospadias, Low Set Ears, Short Neck

  • Down Syndrome

    […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[] Additional external findings included alopecia universalis, penoscrotal hypospadias, ostium secundum type of atrial septal defect, right ventricular cardiac dilatation, diffuse[] Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[]

  • Schinzel-Giedion Syndrome

    Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on[] Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs.[] […] and sclerotic skull base, short neck, and post-axial polydactyly.[]

  • CHARGE Syndrome

    neck Image of Sloping Shoulders Common Limb/Skeletal Absent thumb, extra fingers, vertebral abnormalities ?[] Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.[] Ear abnormalities and deafness – most children with CHARGE syndrome have some level of hearing impairment, varying from mild to profound, along with underdeveloped or low-set[]

  • Goldberg-Shprintzen Syndrome

    Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[] One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias[] […] head – widely spaced eyes – wandering eye – outside corners of the eyes that point downward – high, narrow roof of the mouth – underdeveloped jaw bones – small lower jaw – low-set[]

  • Raine Syndrome

    neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied.[] […] hypoplastic fifth fingers with clinodactyly, digital webbing, abnormal hand creases, short toes, long broad medially deviated halluces,hypoplastic scrotum, cryptorchidism, hypospadias[] Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.[]

  • Jacobsen Syndrome

    Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence[] Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild[] Our patient was delivered by cesarean section and exhibited skull deformities, facial asymmetry, low-set ears, inguinal hernia, flat feet, and crowded toes.[]

  • Schwartz-Jampel Syndrome

    The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[] […] syndrome, hypospadias-dysphagia syndrome, OpitzBBB/G syndrome, Opitz BBBG syndrome, Opitz-Frias syndrome, Opitz G syndrome, Opitz syndrome, hypertelorism with esophageal[] The children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low[]

  • Cerebro-Facio-Thoracic Dysplasia

    MorphologicalEpicanthus 2 2 2 2Hypertelorism Broad short nose Short neck Low-set, posteriorlyangulated ears Synophrys 2 2 Flat face Low hairline 2 Narrow forehead ? ?[] […] giant cell lesion syndrome Cherubism and polyarticular pigmented villonodular synovitis Opitz-BBB syndrome X-linked and AD (indistinguishable clinically) Hypertelorism, hypospadias[] […] findings are mental retardation, characteristic facies, narrow forehead, bushy eyebrows with synophrys, hypertelorism, broad nose, wide philtrum, triangular-shaped mouth, short[]

  • Deletion of the Long Arm of Chromosome 18

    neck (3%) Severe feeding problems (3%) Age of onset, natural history, life span [ edit ] Symptoms are apparent from birth in most cases Natural history: Most patients have[] […] genital malformations may include undescended testes (cryptorchidism); an abnormally small penis (micropenis) and scrotum; and/or abnormal placement of the urinary opening (hypospadias[] neck.[]

  • Trisomy 4p

    […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[] Triangular face in adults * Poor dentition * Elongated chin * Clinodactyly of fifth fingers * Camptodactyly * Hypoplastic fingernails * Hypoplastic toenails * Small penis * Hypospadias[] […] partial trisomy 4p and partial monosomy 8p who had prenatal and postnatal growth retardation, mental retardation, no speech development, mild synophrys, hirsutism, apparently low-set[]

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