IllnessAnophthalmia, microphthalmia: differential diagnosis

NGS +

[Sanger]

Group of disorders: Microphthalmia-anophthalmia-coloboma

ORPHA:1104 Anophthalmia plus syndrome

ORPHA:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome Keyword: Anophthalmia-heart and pulmonary anomalies-mental retardation syndr.

ORPHA:1102 Anophthalmia-hypothalamo-pituitary insufficiency syndrome

ORPHA:1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

ORPHA:77298 Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:98938 Colobomatous microphthalmia Synonym: Microphthalmia-anophthalmia-coloboma syndrome

ORPHA:2542 Isolated microphthalmia-anophthalmia-coloboma Synonym: Isolated anophthalmia-microphthalmia syndrome Keyword(s) : Primitive anophthalmia ; Microphthalmia-anophthalmia-coloboma spectrum

ORPHA:2470 Matthew-Wood syndrome Synonym: Anophthalmia-pulmonary hypoplasia syndrome

ORPHA:1106 Microphthalmia with limb anomalies Synonym: Waardenburg anophthalmia syndrome

ORPHA:98555 Microphthalmia-anophthalmia-coloboma Synonym: Anophthalmia-microphthalmia syndrome Keyword: Microphthalmia-anophthalmia-coloboma spectrum

ORPHA:35612 Nanophthalmos Synonym: Nanophthalmia

ORPHA:178364 Syndromic microphthalmia type 5 Synonym: Syndromic microphthalmia/anophthalmia due to OTX2 mutation

ORPHA:202948 Syndromic microphthalmia-anophthalmia-coloboma Keyword: Microphthalmia-anophthalmia-coloboma spectrum

• Alias: Anophthalmia-microphthalmia syndrome
• Alias: Anophthalmos, microphthalmos
• Alias: Microphthalmia-anophthalmia-coloboma
• Allelic: Aniridia (PAX6)
• Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Allelic: Basal cell nevus syndrome (PTCH1)
• Allelic: Bifid nose with/-out anorectal + renal anomalies (FREM1)
• Allelic: CHARGE [Coloboma, Heart anom., choanal Atresia, Retard., Genital/Ear anom.] syndrome (CHD7)
• Allelic: Cardiac-urogenital syndrome (MYRF)
• Allelic: Cataract 34, multiple type (FOXE3)
• Allelic: Cataract 40, XL (NHS)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Encephalitis/encephalopathy, mild, reversible myelin vacuolization (MYRF)
• Allelic: Facioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
• Allelic: Growth hormone deficiency with pituitary anomalies (HESX1)
• Allelic: Holoprosencephaly 3 (SHH)
• Allelic: Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Allelic: Keratitis (PAX6)
• 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: Morning glory disc anomaly (PAX6)
• Allelic: Multiple synostoses syndrome 4 (GDF6)
• Allelic: Nance-Horan [cataract-dental] syndrome (NHS)
• Allelic: Ogden syndrome [growth failure, delayed psychomotor development, dysmorphisms] (NAA10)
• Allelic: Optic disc anomalies with retinal and/or macular dystrophy (SIX6)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Pallister-Hall-like syndrome (SMO)
• Allelic: Persistent hyperplastic primary vitreous, AR (ATOH7)
• Allelic: Pituitary hormone deficiency, combined, 5 (HESX1)
• Allelic: Pituitary hormone deficiency, combined, 6 (OTX2)
• Allelic: Retinal dystrophy, early-onset, with/-out pituitary dysfunction (OTX2)
• Allelic: Ring dermoid of cornea (PITX2)
• Allelic: Schizencephaly (SHH)
• Allelic: Single median maxillary central incisor (SHH)
• Allelic: Temtamy syndrome [Ment. retard., craniofacial dysmorph., coloboma] (C13orf57)
• Allelic: Trigonocephaly 2 (FREM1)
• Anophthalmia (PAX6)
• Anophthalmia, microphthalmia (RAX, SIX6)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
• Anterior segment dysgenesis 4 (PITX2)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Anterior segment dysgenesis 7, with sclerocornea (PXDN)
• Axenfeld-Rieger syndrome, type 1 (PITX2)
• Axenfeld-Rieger syndrome, type 3 (FOXC1)
• BMP4-Related Syndromic Microphthalmia (BMP4)
• Bilateral microphthalmia, short stature + facial dysmorphism [panelapp] (OLFM2)
• Bosma arhinia microphthalmia syndrome (SMCHD1)
• Branchiooculofacial syndrome (TFAP2A)
• Cataract 9, multiple types (CRYAA)
• Cerebrooculofacioskeletal syndrome 4 (ERCC1)
• Coloboma, ocular, AR (SALL2)
• Coloboma, ocular, with/-out hearing impairment, cleft lip/palate, mental retardation (YAP1)
• Colobomatous microphthalmia [panelapp] (FAT1)
• Curry-Jones syndrome, somatic mosaic (SMO)
• Focal dermal hypoplasia (PORCN)
• Fraser syndrome 3 [cryptophthalmus + other malformations] (GRIP1)
• Fraser syndrome [cryptophthalmus + other malformations] (FRAS1)
• Holoprosencephaly 7 (PTCH1)
• Isolated Microphthalmia (MFRP)
• Joubert syndrome 22 (PDE6D)
• Kabuki syndrome 1 (KMT2D)
• Manitoba oculotrichoanal syndrome (FREM1)
• Martsolf [cataract-mental retardation-hypogonadism] syndrome (RAB3GAP2)
• Microphthalmia with cataract 2 (SIX6)
• 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, Kabuki syndrome 1 (KMT2D)
• Microphthalmia, coloboma, micrognathia, diaphragmatic hernia [panelapp] (TMX3)
• 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 7 (ABCB6)
• Microphthalmia, isolated, with coloboma 8 (STRA6)
• Microphthalmia, isolated, with coloboma 9 (TENM3)
• Microphthalmia, syndromic 1 (NAA10)
• Microphthalmia, syndromic 11 (VAX1)
• Microphthalmia, syndromic 13 (HMGB3)
• Microphthalmia, syndromic 14 (MAB21L2)
• Microphthalmia, syndromic 15 (TENM3)
• Microphthalmia, syndromic 2 (BCOR)
• Microphthalmia, syndromic 3 (SOX2)
• Microphthalmia, syndromic 5 (OTX2)
• Microphthalmia, syndromic 6 (BMP4)
• Microphthalmia, syndromic 7 (HCCS)
• Microphthalmia, syndromic 9 (STRA6)
• Microphthalmia/coloboma + skeletal dysplasia syndrome (MAB21L2)
• Nanophthalmos 2 (NFRP)
• Nanophthalmos 4 (TMEM98)
• Nanophthalmos [panelapp] (MYRF)
• Nanophthalmos, high hyperopia (MYRF)
• OTX2-related syndromic microphthalmia 4 (OTX2)
• Oculogastrointestinal neurodevelopmental syndrome (CAPN15)
• Optic nerve hypoplasia and abnormalities of the central nervous system (SOX2)
• Orofaciodigital syndrome IX [panelapp] (SCLT1)
• Papillorenal [renal coloboma] syndrome (PAX2)
• Renpenning [mental retardation, XL syndromic] syndrome (PQBP1)
• Septooptic dysplasia [optic nerve hypopl., pituitary hypoplasia, midline brain anomalies] (HESX1)
• Warburg micro syndrome 1 (RAB3GAP1)
• Warburg micro syndrome 12 (RARB)
• Warburg micro syndrome 2 (RAB3GAP2)
• Warburg micro syndrome 3 (RAB18)
• Warburg micro syndrome 4 (TBC1D20)