Ichthyosis Prematurity Syndrome (IPS) Overview and nomenclature Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive genodermatosis that forms a distinct, syndromic subtype of autosomal recessive congenital ichthyosis (ARCI). It is defined by a characteristic triad:[1][2][3] Orphanet lists IPS under ORPHA:88621 and also notes the synonym “congenital ichthyosis type 4”. Malacards and other rare‑disease catalogs …
Ichthyosis–Hypotrichosis Syndrome (Autosomal Recessive Congenital Ichthyosis 11, ST14-Related) Overview and nomenclature Ichthyosis–hypotrichosis syndrome is an autosomal recessive genodermatosis characterized by congenital ichthyosis and diffuse, non‑scarring hypotrichosis, often with variable ocular surface involvement and, in some patients, hypohidrosis. It is part of the spectrum of autosomal recessive congenital ichthyosis 11 (ARCI11) caused by biallelic pathogenic variants …
Ichthyosis Variegata (Ichthyosis with Confetti / Congenital Reticular Ichthyosiform Erythroderma) Overview and nomenclature Ichthyosis variegata is an extremely rare form of congenital ichthyosis now more commonly known as ichthyosis with confetti (IWC) or congenital reticular ichthyosiform erythroderma (CRIE). Major reference sources (MedlinePlus Genetics, Orphanet, NORD, keratinopathic ichthyosis reviews) treat these terms as synonyms describing the …
IVIC Syndrome (Instituto Venezolano de Investigaciones Científicas / Oculo‑Oto‑Radial SALL4‑Related Disorder) Overview and nomenclature IVIC syndrome is a very rare autosomal dominant malformation syndrome characterized by upper‑limb anomalies (especially radial‑ray and thumb defects), extraocular motor disturbances, and congenital bilateral non‑progressive mixed hearing loss. The acronym IVIC refers to the Instituto Venezolano de Investigaciones Científicas in …
IRAK4 Deficiency (Immunodeficiency 67) Overview IRAK4 deficiency is a rare, autosomal recessive primary immunodeficiency of innate immunity caused by biallelic loss‑of‑function variants in the IRAK4 gene encoding interleukin‑1 receptor‑associated kinase 4. Major rare‑disease databases classify this condition under the name “immunodeficiency 67” and list multiple synonymous labels, including:[1][2][3][4][5][6] The hallmark of IRAK4 deficiency is marked …
IFAH Syndrome (Ichthyosis–Follicular Atrophoderma–Hypotrichosis / Ichthyosis–Hypotrichosis Syndrome, ARCI11) Overview and nomenclature IFAH syndrome is a very rare inherited keratinization disorder primarily affecting the skin and hair, characterized by congenital ichthyosis, follicular atrophoderma, generalized hypotrichosis, and in many cases hypohidrosis (reduced sweating). It is now understood to be part of the spectrum of autosomal recessive congenital …
IBA57 Deficiency (Multiple Mitochondrial Dysfunctions Syndrome Type 3) – Overview IBA57 deficiency is a rare autosomal recessive mitochondrial disorder caused by pathogenic variants in the IBA57 gene, leading to a neurometabolic disease most commonly classified as multiple mitochondrial dysfunctions syndrome type 3 (MMDS3). Major rare-disease resources, including Orphanet, NORD, OMIM, and MedGen, list “IBA57 deficiency” …