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1,586 Possible Causes for Coloboma, Developmental Delay

  • Mandibulofacial Dysostosis

    Paulo, Bauru, SP, Brazil. [email protected] Abstract We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma[ncbi.nlm.nih.gov] CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients.[ncbi.nlm.nih.gov] The most important manifestations of this syndrome are hypoplastic or absent malar bone, centrofacial over-projection, eyelid coloboma, and micrognathia.[ncbi.nlm.nih.gov]

  • Aicardi's Syndrome

    There is Dandy-Walker malformation, vertebral anomalies, chorioretinopathy, coloboma, and heterotopia of gray matter.[ncbi.nlm.nih.gov] delay.[ncbi.nlm.nih.gov] […] histological data from two previous reports, it becomes likely that the cysts have formed from abnormal migration of neuroretinal tissue through the border of the optic disc coloboma[ncbi.nlm.nih.gov]

  • CHARGE Syndrome

    Here we describe electrophysiology findings in a four-week-old infant born with bilateral coloboma, more extensive in the right eye, as part of CHARGE syndrome.[ncbi.nlm.nih.gov] delay, and genital and ear anomalies.[ncbi.nlm.nih.gov] delay, cardiac anomalies, growth retardation, orofacial clefting, tracheo-oesophageal fistula and characteristic facies) proposed by Blake et al.[ncbi.nlm.nih.gov]

  • 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] Children who survive the neonatal period continue to express developmental delays and exhibit a declining developmental quotient over time.[emedicine.com] […] anomalies are common and include holoprosencephaly (failure of the forebrain to divide properly), facial anomalies such as cleft lip and cleft palate , microphthalmia , colobomas[merckmanuals.com]

  • Uveal Coloboma - Cleft Lip and Palate - Intellectual Disability

    PubMed is a searchable database of medical literature and lists journal articles that discuss Uveal coloboma-cleft lip and palate-intellectual disability.[rarediseases.info.nih.gov] delay, dysmorphic facies, macrocephaly, mental retardation and obesity Yes Unnamed 18 Mental retardation, developmental delay, selective mutism, distinctive facial features[raredr.com] Coloboma of optic nerve [Supplementary Concept] A coloboma similar to autosomal dominant ocular coloboma (OMIM: 120200) both eyes are usually affected and it is frequently[ncbi.nlm.nih.gov]

  • Baraitser-Winter Syndrome 1

    Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.[ncbi.nlm.nih.gov] The severity of intellectual disability/developmental delay and presence of seizures correlates with the degree to which neuronal migration defects are evident.[invitae.com] Cleft lip /palate Enophthalmos Highly arched eyebrow Hypertelorism Iris coloboma Long palpebral fissure Long philtrum Low posterior hairline Microcephaly ... ...[familydiagnosis.com]

  • Uveal Coloboma - Cleft Lip and Cleft Palate - Intellectual Disability

    Homepage Rare diseases Search Search for a rare disease Uveal coloboma-cleft lip and palate-intellectual disability Disease definition Uveal coloboma-cleft lip and palate-intellectual[orpha.net] Some of the anomalies discussed here include In general, children with CFA should be evaluated for other associated physical anomalies and developmental delays that may require[merckmanuals.com] delay, abnormal muscle tone, and abnormal eye movement in December 2012.[hkmj.org]

  • Verheij Syndrome

    Some affected people may also have coloboma, kidney abnormalities, and heart defects.[malacards.org] The signs and symptoms vary but may include slow growth, developmental delay , characteristic facial features, and skeletal abnormalities.[rarediseases.info.nih.gov] The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities.[malacards.org]

  • Baraitser Syndrome

    Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41-3. Pallotta R.[ghr.nlm.nih.gov] Abstract This study reports on two individuals with Temple-Baraitser syndrome, manifesting typical hallux and pollex findings, global developmental delay, and seizures.[ncbi.nlm.nih.gov] Symptoms - Nicolaides–Baraitser syndrome The most common symptoms of Nicolaides–Baraitser syndrome are mild to severe developmental delays with absent or limited speech, seizures[checkorphan.org]

  • Goldberg-Shprintzen Syndrome

    Several reports with variable association of microcephaly, iris coloboma, cleft palate and mental retardation, and regarded as possible variants GSS, are unlikely allelic[humpath.com] Abstract Goldberg-Shprintzen syndrome is a rare autosomal recessive condition that describes the association of Hirschsprung disease with microcephaly, developmental delay[ncbi.nlm.nih.gov] Hypotonia, severe global developmental delay (with greatest impairment in expressive language skills) and moderate to severe intellectual disability are constant features.[orpha.net]

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