Klinische FragestellungPränatale Anophthalmie/Mikrophthalmie, Differentialdiagnose

NGS +

19. Anophthalmie, Mikrophthalmie, Anophthalmos, Microphthalmos

• Alias: Prenatal anophthalmia/microphthalmia
• Allelic: Atrioventricular septal defect 3 (GJA1)
• Allelic: Cataract 11, syndromic, AR (PITX3)
• Allelic: Craniometaphyseal dysplasia, AR (GJA1)
• Allelic: Culler-Jones syndrome (GLI2)
• Allelic: Erythrokeratodermia variabilis et progressiva 3 (GJA1)
• Allelic: Holoprosencephaly 3 (SHH)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Hypoplastic left heart syndrome 1 (GJA1)
• Allelic: Klippel-Feil syndrome 1, AD (GDF6)
• Allelic: Klippel-Feil syndrome 3, AD (GDF3)
• Allelic: Leber congenital amaurosis 17 (GDF6)
• Allelic: Linear skin defects with multiple congenital anomalies 1 (HCCS)
• Allelic: Multiple synostoses syndrome 4 (GDF6)
• Allelic: Ogden syndrome (NAA10)
• Allelic: Optic nerve hypoplasia + abnormalities of the CNS (SOX2)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Palmoplantar keratoderma with congenital alopecia (GJA1)
• Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Allelic: Schizencephaly (SHH)
• Allelic: Single median maxillary central incisor (SHH)
• Allelic: Syndactyly, type III (GJA1)
• Allelic: Waardenburg syndrome, type 2A (MITF)
• Anterior segment dysgenesis 1, multiple subtypes (PITX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 4 (PITX2)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Brain small vessel disease with/-out ocular anomalies (COL4A1)
• Branchiooculofacial syndrome (TFAP2A)
• CHARGE [Coloboma; Heart anomaly; Atresia, choanal; mental R, Genital + Ear anomal.] syndrome (CHD7)
• COMMAD syndrome (MITF)
• Cardiac-urogenital syndrome (MYRF)
• Cataract 1, multiple types (GJA8)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Colobomatous microphthalmia [panelapp] (FAT1)
• Cryptophthalmos, unilateral or bilateral, isolated (FREM2)
• Curry-Jones syndrome, somatic mosaic (SMO)
• Fraser syndrome 1 (FRAS1)
• Fraser syndrome 2 (FREM2)
• Fraser syndrome 3 (GRIP1)
• Holoprosencephaly 9 (GLI2)
• Kabuki syndrome 1 (KMT2D)
• Linear skin defects with multiple congenital anomalies 2 (COX7B)
• Linear skin defects with multiple congenital anomalies 3 (NDFB11)
• Manitoba oculotrichoanal syndrome (FREM1)
• Microphthalmia with coloboma 3 (VSX2)
• Microphthalmia with coloboma 5 (SHH)
• Microphthalmia with coloboma 6 (GDF3)
• Microphthalmia with coloboma 6, digenic (GDF6)
• Microphthalmia with limb anomalies (SMOC1)
• Microphthalmia, isolated 2 (VSX2)
• Microphthalmia, isolated 3 (RAX)
• Microphthalmia, isolated 4 (GDF6)
• Microphthalmia, isolated 5 (MFRP)
• Microphthalmia, isolated 6 (PRSS56)
• Microphthalmia, isolated 7 (GDF3)
• Microphthalmia, isolated 8 (ALDH1A3)
• Microphthalmia, isolated, with coloboma 8 (STRA6)
• Microphthalmia, isolated, with coloboma 9 (TENM3)
• Microphthalmia, syndromic 1 (NAA10)
• Microphthalmia, syndromic 12 (RARB)
• Microphthalmia, syndromic 15 (TENM3)
• Microphthalmia, syndromic 2 (BCOR)
• Microphthalmia, syndromic 3 (SOX2)
• Microphthalmia, syndromic 5 (OTX2)
• Microphthalmia, syndromic 6 (BMP4)
• Microphthalmia, syndromic 9 (STRA6)
• Microphthalmia/coloboma and skeletal dysplasia syndrome (MAB21L2)
• Nanophthalmos 2 (MFRP)
• Nanophthalmos 4 (TMEM98)
• Neurooculocardiogenitourinary syndrome (WDR37)
• Oculodentodigital dysplasia, AR (GJA1)
• Optic disc anomalies with retinal and/or macular dystrophy (SIX6)
• Papillorenal syndrome (PAX2)
• Pontocerebellar hypoplasia, type 6 (RARS2)
• Warburg micro syndrome 1 (RAB3GAP1)
• Warburg micro syndrome 2 (RAB3GAP2)
• Warburg micro syndrome 3 (RAB18)
• Warburg micro syndrome 4 (TBC1D)