Additional Disease Briefs

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syndactyly type 5

Also known as: SD5, SDTY5, postaxial syndactyly with metacarpal synostosis, syndactyly with associated metacarpal and metatarsal fusion, syndactyly with metacarpal and metatarsal fusion, syndactyly, type 5, syndactyly, type V


syndactyly type 6

Also known as: mitten hand, syndactyly, mitten type, unilateral syndactyly of digits 2-5


syndactyly type 8

Also known as: FGF16 non-syndromic syndactyly, MF4, fusion of metacarpals 4 and 5, metacarpal 4-5 fusion, metacarpal 4-5 fusion, X-linked recessive, metacarpals 4 and 5 fusion, non-syndromic syndactyly caused by mutation in FGF16



syndactyly-telecanthus-anogenital and renal malformations syndrome

Also known as: STAR, STAR syndrome, STAR syndrome, X-linked dominant, Star syndrome, syndactyly with renal and anogenital malformations, syndactyly, telecanthus, anogenital and renal malformations, syndactyly-telecanthus-anogenital and renal malformations syndrome, toe syndactyly, telecanthus, and anogenital and renal malformations, toe syndactyly, telecanthus, anogenital and renal malformations



syndromic microphthalmia type 5

Also known as: MCOPS5, OTX2 syndromic microphthalmia, OTX2-related eye disorders, microphthalmia syndromic 5, microphthalmia, syndromic 5, microphthalmia, syndromic type 5, retinal dystrophy, early-onset, with or without pituitary dysfunction, syndromic microphthalmia caused by mutation in OTX2, syndromic microphthalmia type 5, syndromic microphthalmia/anophthalmia due to OTX2 mutation


syndromic multisystem autoimmune disease due to ITCH deficiency

Also known as: ADMFD, ITCH E3 ubiquitin ligase deficiency, autoimmune disease, multisystem, with facial dysmorphism, autoimmune disease, syndromic multisystem, syndromic multisystem autoimmune disease, syndromic multisystem autoimmune disease due to ITCH deficiency



syndromic recessive X-linked ichthyosis

Also known as: recessive X-linked ichthyosis with extracutaneous manifestations, syndrome associated with recessive X-linked ichthyosis, syndromic RXLI, syndromic X-linked ichthyosis, syndromic recessive X-linked ichthyosis