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1,642 Possible Causes for Coloboma, Polydactyly

  • Patau Syndrome

    Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Heart defects Structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus[cytogenx.com]

  • Branchio-Oculo-Facial Syndrome

    An infant presenting with anophththalmia/coloboma and subtle craniofacial symptoms was found to have a family history of congenital cataracts and colobomas in her mother.[ncbi.nlm.nih.gov] This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome.[ncbi.nlm.nih.gov] She also exhibited a rare feature of preaxial polydactyly. Her brother had a lethal phenotype with multiorgan failure. We also report a novel variant in TFAP2A gene.[ncbi.nlm.nih.gov]

  • Frontonasal Dysplasia

    […] normal and non-consanguineous parents and presenting, among other signs, brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas[ncbi.nlm.nih.gov] This form of frontonasal dysplasia was documented previously in a few other cases with various combinations of postaxial polydactyly, tibial hypoplasia, epibulbar dermoid,[ncbi.nlm.nih.gov] Ten eyes in seven patients (30 percent) had severe structural anomalies, such as optic nerve hypoplasia, optic nerve colobomas, microphthalmia, cataract, corneal dermoid,[ncbi.nlm.nih.gov]

  • Partial Trisomy 13 in Patau Syndrome

    Eye pathology is noted: microphthalmia, colobomas, opacification of a cornea. The nose is flat, wide, with the sunk-down bridge of the nose and the stupid involved tip.[en.medicalmed.de] The absence of polydactyly, hernias, urogenital abnormalities, and haemangiomas contrast this condition with both trisomy 13 and duplication of 13q14-22-- qter.[ncbi.nlm.nih.gov] […] fingers or toes (polydactyly) THE EXTRA DIGIT SEEMS TO ALWAYS BE BENT BACK DEFORMED AS WELL Hernias: umbilical hernia, inguinal hernia Hole, split, or cleft in the iris (coloboma[documentingreality.com]

  • Meckel-Gruber Syndrome

    […] pulmonary hypoplasia additional findings situs inversus facial dysmorphies shortened bones congenital heart defect pancreatic cysts accessory Spleen genital malformation coloboma[neocyst.de] The pathologic reports revealed type I polycystic kidney, bile duct proliferation, fibrosis of the portal area, encephalocele and polydactyly.[ncbi.nlm.nih.gov] Patients diagnosed with MKS, and that have additional features of ductal plate malformation and/or retinal coloboma, should be tested for TMEM67 mutations since, in any case[ciliajournal.biomedcentral.com]

  • Meckel Syndrome Type 7

    […] pulmonary hypoplasia additional findings situs inversus facial dysmorphies shortened bones congenital heart defect pancreatic cysts accessory Spleen genital malformation coloboma[neocyst.de] Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] […] sign ( MTS ) hypotonia developmental delay Additional clinical findings may include tachypnea and/or apnea, abnormal eye movements, retinal dystrophy, renal disease, ocular colobomas[invitae.com]

  • Retinitis Pigmentosa

    , and comedogenic acne syndrome, Microphthalmia, isolated, with coloboma 10 AD/AR 8 7 RDH12 Retinitis pigmentosa, Leber congenital amaurosis AD/AR 23 102 RDH5 Fundus albipunctatus[blueprintgenetics.com] The two siblings showed signs of RP and polydactyly.[ncbi.nlm.nih.gov] […] are more likely to develop symptoms of RP earlier than those diagnosed with type two Laurence-Moon-Bardet-Beidl Syndrome – the symptoms of this syndrome can include RP, polydactyly[svrc.vic.edu.au]

  • Laurence Moon Syndrome

    […] buildup of connective tissue and scarring of liver at birth 0002612 Displacement of the urethral meatus 0100627 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Iris coloboma[rarediseases.info.nih.gov] Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] CONGENITO OCULARE ISOLATO O SINDROMICO (le patologie sottoelencate, pur incluse nel gruppo, sono codificate come indicato tra parentesi) COLOBOMA CONGENITO DELL’IRIDE COLOBOMA[amaram.it]

  • Pallister-Hall Syndrome

    Congenital absence of eyelash Congenital atresia of external auditory canal Congenital atrophy of optic nerve Congenital blepharophimosis Congenital blepharophimosis Congenital coloboma[icdlist.com] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome. Eur J Med Genet . March/2012. 55(3):211-5. [Medline] . [Full Text] .[emedicine.medscape.com]

  • Polydactyly

    Drusen and colobomas are sometimes seen in the optic nerve while occasional patients have typical chorioretinal colobomas. The eyebrows are often highly arched.[disorders.eyes.arizona.edu] Complications Complications related to polydactyly is associated with the surgical intervention for managing polydactyly.[symptoma.com] Disorder; Polydactyly * UPercin and Percin (2003) An Unusual Syndactyly * RPeters’ Anomaly-Microphthalmia-Arhinia * UPfeiffer-Angerstein-Bowing-Bone Dysplasia * RPfeiffer-Mayer-Coloboma[ncbi.nlm.nih.gov]

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