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522 Possible Causes for Cryptorchidism, Retrognathia, Short Neck

  • Rudiger's Syndrome

    neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] […] physi- cal examination, it was verified the presence of: bilateral cleft lip and complete cleft palate (involving hard and soft palate), micrognathia, abnormal low-set ears, short[redalyc.org]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[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]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov] Noonan syndrome (NS) is a genetic condition presenting with typical facies, cardiac defects, short stature, variable developmental deficit, cryptorchidism, skeletal, and other[ncbi.nlm.nih.gov]

  • Robinow-Like Syndrome

    […] ears Low set ears Lowset ears [ more ] 0000369 Nail dysplasia Atypical nail growth 0002164 Narrow palate Narrow roof of mouth 0000189 Oral cleft Cleft of the mouth 0000202 Retrognathia[rarediseases.info.nih.gov] In women, there is hypoplasia of the clitoris and the labia minora, the men - the small size of the penis with or without cryptorchidism him.[health-and-beaty.blogspot.com] […] upper portion of limb 0008905 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body[rarediseases.info.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] Urogenital anomalies One patient had cryptorchidism and another unilateral vesicoureteral reflux and multicystic renal dysplasia.[doi.org]

  • 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[jhu.pure.elsevier.com] A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years[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]

  • Aarskog-Scott Syndrome

    She exhibited ocular hypertelorism ( Figure-1 ), up-slanting palpebral fissures, malar hypoplasia, anteverted nostrils, slight retrognathia, clinodactyly of the fifth fingers[scielo.br] Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[ncbi.nlm.nih.gov] Genitourinary Manifestations 'shawl' scrotum (80%) cryptorchidism (75%) inguinal hernia (60%) 3.[web.archive.org]

  • Dubowitz Syndrome

    […] microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dysplastic auricles, and retrognathia[ncbi.nlm.nih.gov] The features include: a small, narrow and asymmetrical face; a high, broad and sloping forehead; widely spaced eyes; broad nasal bridge; and short, webbed neck.[cafamily.org.uk] Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects.[ncbi.nlm.nih.gov]

  • Trisomy 4p

    […] share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia[ncbi.nlm.nih.gov] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[ncbi.nlm.nih.gov] […] nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 30%-79% of people have these symptoms Camptodactyly of finger Permanent flexion of the finger 0100490 Cryptorchidism[rarediseases.info.nih.gov]

  • Autosomal-Recessive Robinow Syndrome

    Midface retrusion ; Missing ribs ; Nail dysplasia ; Nevus flammeus ; Pectus excavatum ; Posteriorly rotated ears ; Proptosis ; Radial deviation of finger ; Renal duplication ; Retrognathia[mousephenotype.org] […] facies anomalies fetal facies hypertelorism 3 frontal bossing 3 long philtrum 3 hypogenitalism micropenis in males hypoplasia of the clitoris and labia minora in females. cryptorchidism[radiopaedia.org] […] thick / curved lashes / trichomegaly / polytrichia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia[csbg.cnb.csic.es]

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