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11 Possible Causes for Congenital Absence of the Testis, low set, Malformed Ears

  • Noonan Syndrome

    This condition is associated with short stature, heart defects, bleeding disorders, delayed puberty, and skeletal malformations.[columbiadoctors.org] […] nipples, undescended testicles, abnormal facial characteristics (e.g., bright blue or green colored iris, wide-spaced eyes, low-set fleshy ears).[symptoma.com] , choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Congenital absence of heart structure Congenital anomaly[icd9data.com]

  • Synorchism

    […] of male genital organs Excludes1 congenital hydrocele ( P83.5 ) hypospadias ( Q54 .-) Q55.0 Absence and aplasia of testis Inclusion term(s): Monorchism Q55.1 Hypoplasia of[icd10coded.com] malformations.[glowm.com] […] chordee Q54.8 Other hypospadias Q54.9 Hypospadias, unspecified Q55 Other congenital malformations of male genital organs Q55.0 Absence and aplasia of testis Q55.1 Hypoplasia[icd10data.com]

  • Kleiner Holmes Syndrome

    The right sided syndrome, congenital absence of kidney and testis. Saudi J Kidney Dis Transpl. 2011; 22:315-8.[jocr.co.in] The face was slightly asymmetrical, with low-set and malformed ears, broad and bulbous nose, narrow palpebral fissures and absent eyeballs.[annsaudimed.net] , also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, noticeably low[checkrare.com]

  • Congenital Absence of the Penis

    - Absence and aplasia of testis Q55.1 - Hypoplasia of testis and scrotum Q55.2 - Other congenital malformations of testis and scrotum Q55.3 - Atresia of vas deferens Q55.4[icd-code.org] Minor malformations include haemangiomas and naevi ( birthmarks ); skin tags; hydrocoeles; webbing of fingers and toes or supernumerary digits; malformed ears; and pigmented[encyclopedia.com] […] was presence of congenital anomalies in five of the patients which included hydronephrosis, vesico urethral reflux, imperforate anus, cleft lip, cleft palate, beaked nose, low[saudisurgj.org]

  • Congenital Malformation Syndromes due to Exogenous Causes

    […] chordee Q54.8 Other hypospadias Q54.9 Hypospadias, unspecified Q55 Other congenital malformations of male genital organs Q55.0 Absence and aplasia of testis Q55.1 Hypoplasia[pps.ivant.com] A syndrome characterized by growth retardation, severe mental retardation, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth,[icd10data.com] Congenital malformation of testis or scrotum NOS Q55.21 Polyorchism Q55.22 Retractile testis Q55.23 Scrotal transposition Q55.29 Other congenital malformations of testis and[app.drchrono.com]

  • Hypergonadotropic Hypogonadism-Cataract Syndrome

    […] adrenal hyperplasia 6, 7 STAR Congenital adrenal insufficiency, testis function is more severely affected than ovarian function Aromatase deficiency 8-10 CYP19A1 Maternal[endocrine.gr] The other malformations are neurologic (n   5), ears (n   5), dental agenesia (median incisor) or cleft lip and palate (n   4), heart (n   3) and/or orthopedic (n   4).[journals.plos.org] Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.[fpnotebook.com]

  • Congenital Bilateral Absence of Vas Deferens

    What Causes Congenital Bilateral Absence Of Vas Deferens? Congenital bilateral absence of vas deferens is a deformity of male reproductive organ.[tandurust.com] Malformation of ears as sign of malformation of genito-urinary tract . BMJ 1957; 2 : 785–789. 17. Buchta RM , Viseskul C , Gilbert EF , Sarto GE , et al.[nature.com] Oligohydramnios leads to pulmonary agenesis (usually with fatal outcome) and characteristic facies (folds under the eyes, flat nose, low-set ears and a receding chin).[patient.info]

  • Congenital Absence of both Forearm and Hand

    Congenital malformation of testis or scrotum NOS Q55.21 Polyorchism Q55.22 Retractile testis Q55.23 Scrotal transposition Q55.29 Other congenital malformations of testis and[app.drchrono.com] […] of the external ear, fusion defects of the eye, and absence of the normal openings of the gastrointestinal tract.[britannica.com] Facial clefts may be accompanied by other facial anomalies such as abnormally small jaw, and missing ears or nose.[en.wikipedia.org]

  • Congenital Absence of Upper Arm and Forearm with Hand Present

    Congenital malformation of testis or scrotum NOS Q55.21 Polyorchism Q55.22 Retractile testis Q55.23 Scrotal transposition Q55.29 Other congenital malformations of testis and[app.drchrono.com] Individuals with Down syndrome have mental retardation, muscle weakness, downward slant of the eyes, low-set and malformed ears, an abnormal crease in the palm of the hand[my.clevelandclinic.org] Facial clefts may be accompanied by other facial anomalies such as abnormally small jaw, and missing ears or nose.[en.wikipedia.org]

  • Anonychia Congenita Totalis

    […] chordee Q54.8 Other hypospadias Q54.9 Hypospadias, unspecified Q55 Other congenital malformations of male genital organs Q55.0 Absence and aplasia of testis Q55.1 Hypoplasia[pps.ivant.com] ., long philtrum, hypertelorism and low set ear (Figure 3). Her intelligence was normal.[japi.org] Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.[bioportfolio.com]