Create issue ticket

29 Possible Causes for Congenital Ear Deformity, Ectopia Lentis, Microphallus

  • CHARGE Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[encyclopedia.com] Microphallus, penile agenesis, hypospadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are reported genital[doi.org]

  • Acrootoocular Syndrome

    Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal[eyewiki.org] […] imperforate anus, renal anomalies (renal hypoplasia or agenesis), limb anomalies (polydactyly, short limbs, syndactyly and nail dysplasia) and genitourinary abnormalities (microphallus[academic.oup.com] Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...[ibis-birthdefects.org]

  • Arthrogryposis Syndrome

    lentis, myopia, high-arched palate, relatively short neck, mitral valve prolapse, mitral regurgitation, atrial septal defect, ventricular septal defect, bicuspid aortic valve[bredagenetics.com] A mild to moderate forms with blepharoptosis, microphallus, cryptorchidism, inguinal hernia, and normal intelligence … Avenues: A National Support Group for Arthrogryposis[ibis-birthdefects.org] Its features include arthrogrypotic finger contractures, a long, thin body habitus and ear deformities. It is autosomal dominant.[gpnotebook.co.uk]

  • Isolated Congenital Alacrima

    […] that are treated in this facility: Anterior uveitis Congenital glaucoma Early-onset non-syndromic cataract Early-onset partial cataract Glaucoma secondary to spherophakia/ectopia[se-atlas.de] WHO-ICD-10 version:2010 Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of eye, ear, face and neck Mode of Inheritance Autosomal[cags.org.ae] Congenital hypopituitarism may present with life-threatening hypoglycemia, hyponatremia, shock and microphallus and/or cryptorchidism.[clinicaladvisor.com]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Ectopia lentis, familial Ectopia lentis, familial is caused by mutations in FBN1 that are predicted to disrupt normal disulfide bond formation and native protein structure[nature.com] Physical examination may reveal microphallus or midline craniofacial abnormalities.[aafp.org] While similar triad of left facial paralysis, bilateral anotia, and cardiac disease, is presented by Pearl, the congenital deformity of external ears in the present case is[indianjotol.org]

  • Isolated Congenital Breast Hypoplasia or Aplasia

    lentis (6%), aniridia (3%), optic atrophy, nystagmus, decreased visual acuity, narrow nasal bridge, broad nasal tip, notched nasal alae, papillomas (lip and gingiva), cleft[iofbonehealth.org] Darwin's tubercle Pointed ear Prominence of auricle Ridge ear Excludes: preauricular sinus (744.46) 744.3 Unspecified anomaly of ear Congenital: anomaly NOS of ear, NEC deformity[theodora.com] Pulmonary artery stenosis Aplasia/Hypoplasia of the testes Acral lentiginous melanoma Blindness Abnormality of the eye Abnormality of eye movement Bilateral cryptorchidism Microphallus[mendelian.co]

  • Pallister W Syndrome

    (congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome[icd9data.com] Hypothyroidism, microphallus, and cryptorchidism have been reported also.[ajnr.org] Genet. 146A: 3198-3201 Powell Chandra Saal syndrome 0 *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital Ear/abnormalities Radius[reference.md]

  • Helsmoortel-van der Aa Syndrome

    […] developmental delay1 PEX6 5190 912 Blepharoptosis myopia ectopia lentis C1862259 ORPHA10498HP:0001263 HP:0011344 Severe global developmental delay1 PEX6 5190 44 Haim-Munk[mseqdr.org] The adrenal hypoplasia, small thyroid and microphallus are presumably secondary to pituitary insufficiency.[analesdepediatria.org] […] with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[findzebra.com]

  • Cutis Laxa-Marfanoid Syndrome

    Top matches: Low match ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1 Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens[mendelian.co] Methylmalonic Aciduria, cblB type Methylmalonic Aciduria and Homocystinuria, cblC Type Methylmalonic Aciduria, mut(0) Type Mevalonic Aciduria Microhaematuria and Protinuria Microphallus[sequencing.com] […] with focal dermal hypoplasia Congenital contractual arachnodactyly (beals syndrome and distal arthrogryposis type 9) AD, fibrillin 2 gene crumpled ears, marfanoid habitus[quizlet.com]

  • Saethre-Chotzen Syndrome

    A point of difference from Marfan syndrome is that ectopia lentis does not occur. Skeletal manifestations include bowed long bones, metaphy- Fig. 1.12.[rrnursingschool.biz] Leukodystrophy with 11q14.2-q14.3 Leukodystrophy is accompanied by epileptic seizure in infants, severe psychomotor disabilities, growth and developmental disorders, microcephaly, microphallus[nipt.ng] Skeletal deformities may require CT and MRI scans as well as x-rays. Cardiac assessment, including echocardiography, for congenital heart disease.[natureblind.blogspot.com]

Similar symptoms