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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[] Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[] Microphallus, penile agenesis, hypospadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are reported genital[]

  • 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[] […] imperforate anus, renal anomalies (renal hypoplasia or agenesis), limb anomalies (polydactyly, short limbs, syndactyly and nail dysplasia) and genitourinary abnormalities (microphallus[] Microtia - Congenital Ear Institute evaluates and operates hundreds of children born with a congenital ear deformity known as microtia/atresia ...[]

  • Arthrogryposis Syndrome

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

  • 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[] WHO-ICD-10 version:2010 Congenital malformations, deformations and chromosomal abnormalities Congenital malformations of eye, ear, face and neck Mode of Inheritance Autosomal[] Congenital hypopituitarism may present with life-threatening hypoglycemia, hyponatremia, shock and microphallus and/or cryptorchidism.[]

  • 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[] Physical examination may reveal microphallus or midline craniofacial abnormalities.[] 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[]

  • 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[] 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[] Pulmonary artery stenosis Aplasia/Hypoplasia of the testes Acral lentiginous melanoma Blindness Abnormality of the eye Abnormality of eye movement Bilateral cryptorchidism Microphallus[]

  • 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[] Hypothyroidism, microphallus, and cryptorchidism have been reported also.[] Genet. 146A: 3198-3201 Powell Chandra Saal syndrome 0 *Abnormalities, Multiple *Heart Defects, Congenital *Pterygium *Limb Deformities, Congenital Ear/abnormalities Radius[]

  • 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[] The adrenal hypoplasia, small thyroid and microphallus are presumably secondary to pituitary insufficiency.[] […] with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity.[]

  • 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[] Methylmalonic Aciduria, cblB type Methylmalonic Aciduria and Homocystinuria, cblC Type Methylmalonic Aciduria, mut(0) Type Mevalonic Aciduria Microhaematuria and Protinuria Microphallus[] […] with focal dermal hypoplasia Congenital contractual arachnodactyly (beals syndrome and distal arthrogryposis type 9) AD, fibrillin 2 gene crumpled ears, marfanoid habitus[]

  • 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.[] Leukodystrophy with 11q14.2-q14.3 Leukodystrophy is accompanied by epileptic seizure in infants, severe psychomotor disabilities, growth and developmental disorders, microcephaly, microphallus[] Skeletal deformities may require CT and MRI scans as well as x-rays. Cardiac assessment, including echocardiography, for congenital heart disease.[]

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