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

  • Down Syndrome

    […] syndrome there is a level of cognitive impairment, as well as the characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set[symptoma.com] Additional external findings included alopecia universalis, penoscrotal hypospadias, ostium secundum type of atrial septal defect, right ventricular cardiac dilatation, diffuse[ncbi.nlm.nih.gov] 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[britannica.com]

  • Schinzel-Giedion Syndrome

    , and a short neck.[semanticscholar.org] Characteristic features include: midface retraction, widely patent fontanelles, hirsutism, choanal stenosis, hypospadias with chordae, club feet and broad ribs.[ncbi.nlm.nih.gov] Midfacial retraction, frontal bossing, deep groove under the eyes, upturned nose, low-set ears, bilateral cryptorchidism, and generalized hypertrichosis were identified on[ncbi.nlm.nih.gov]

  • CHARGE Syndrome

    neck Image of Sloping Shoulders Common Limb/Skeletal Absent thumb, extra fingers, vertebral abnormalities ?[chargesyndrome.org] Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.[ncbi.nlm.nih.gov] 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[gosh.nhs.uk]

  • 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[ncbi.nlm.nih.gov] Features commonly seen in Jacobsen syndrome were short stature, mental retardation, congenital heart disease, cryptorchidism, strabismus, distal hypospadia glandis, and mild[ncbi.nlm.nih.gov] Our patient was delivered by cesarean section and exhibited skull deformities, facial asymmetry, low-set ears, inguinal hernia, flat feet, and crowded toes.[ncbi.nlm.nih.gov]

  • LEOPARD Syndrome

    Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile.[ncbi.nlm.nih.gov] We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic[ncbi.nlm.nih.gov] […] stature Decreased body height Small stature [ more ] 0004322 Sprengel anomaly High shoulder blade 0000912 Webbed neck Neck webbing 0000465 Wide nasal bridge Broad nasal bridge[rarediseases.info.nih.gov]

  • Cri Du Chat Syndrome

    neck Studies show that facial characteristics change over time , in particular, lengthening of the face and coarsening of features.[findresources.co.uk] Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism.[ncbi.nlm.nih.gov] set ears and short IV metacarpals has not changed with advancing age.[ncbi.nlm.nih.gov]

  • Ring Chromosome 9

    neck and we diagnosed this patient as ring chromosome 9 by chromosomal analysis.[ncbi.nlm.nih.gov] […] had trigonocephaly, upslanting palpebral fissures, small face, micrognathia, high arched palate, low set ears, hypertrichosis and broad eyebrows, short neck and glanduler hypospadias[questia.com] A 680-gmale fetus (Figure 3) was delivered with hypertelorism,down-slanted palpebral fissures, low-set ears, narrowhands and feet, and a micropenis.[documents.tips]

  • Acroosteolysis Dominant Type

    […] mouth with dental anomalies, low-set ears, and short neck.[iofbonehealth.org] […] difficulties for feeding in infancy / growth delay - Flat cheek bones / malar hypoplasia - Hepatomegaly / liver enlargement (excluding storage disease) - Hydrocephaly - Hypospadias[csbg.cnb.csic.es] This can cause birth defects such as skull deformities, cleft lip, low set ears, bushy eyebrows, and down slanted eyes.[diseaseinfosearch.org]

  • Patau Syndrome

    Other characteristics may include a short neck; loose skin folds over the back of the neck; and/or the presence of a benign lesion or birthmark consisting of abnormal clusters[rarediseases.org] Malrotation : Dysfunction of the rotation of the intestine during the embryological development Hyperplasia of the biliary tracts Malformations of the genito-urinary tract Hypospadia[flexikon.doccheck.com] Cutis aplasia (missing portion of the skin/hair) Prominent heel Microcephaly Low-set ears Cleft palate or hare lip Collection Procedure • Amniotic fluid Discard the first[cytogenx.com]

  • Anencephaly

    The other parts of the body were similar to humans with broad shoulders and a short neck.[ncbi.nlm.nih.gov] Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms.[ncbi.nlm.nih.gov] […] of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short[ncbi.nlm.nih.gov]

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