Congenital disorders
28 entries in the Congenital Disorders compendium.
Birth defectBirth defects are present at birth and vary widely.1q21.1 copy number variationsRare chromosome 1 variations causing variable developmental outcomes.1q21.1 deletion syndromeRare chromosomal deletion with highly variable symptoms and incomplete penetrance.Aagenaes syndromeRare syndrome of lymphedema and recurrent infant cholestasis.AchondrogenesisSevere congenital bone and cartilage disorders causing early infant death.Achondrogenesis type 1BPerinatal-lethal skeletal disorder from SLC26A2 mutations.AchondroplasiaGenetic disorder causing disproportionate dwarfism due to FGFR3 mutation.Achondroplasia in childrenAchondroplasia is the most common form of dwarfism in children.AcrodysostosisRare congenital syndrome with skeletal, endocrine, and developmental abnormalities.AgenesisFailure of an organ to develop during embryonic growth.AmyoplasiaMost common form of arthrogryposis, causing joint contractures at birth.AniridiaAniridia is a genetic eye condition marked by iris absence.Arachnoid cystFluid-filled sacs on brain or spinal cord lining.Autosomal dominant GTP cyclohydrolase I deficiencyA genetic disorder causing dopa-responsive dystonia without hyperphenylalaninemia.Autosomal recessive GTP cyclohydrolase I deficiencyA rare disorder causing neurotransmitter and phenylalanine metabolism disruption.Boomerang dysplasiaLethal skeletal disorder with boomerang-shaped limb bones.Bosch–Boonstra–Schaaf optic atrophy syndromeRare genetic syndrome with developmental delay and visual impairment.Brugada syndromeGenetic disorder increasing risk of abnormal heart rhythms and sudden death.Burnside–Butler syndromeA disputed syndrome linked to a common, low-penetrance microdeletion.CamptodactylyA condition causing permanently bent fingers or toes.CANDLE syndromeAutoinflammatory disorder with skin lesions, fever, and lipodystrophy.Cat eye syndromeRare genetic syndrome from extra chromosome 22 material.Caudal duplicationRare congenital disorder of caudal duplication and malformations.Caudal regression syndromeRare congenital disorder of lower spine development.Char syndromeAutosomal dominant congenital disease affecting face, heart, and limbs.Animal chimerismAnimal chimeras are organisms with genetically distinct cell populations.Chromosome No. 1 syndromeA lethal genetic syndrome in newts linked to chromosome 1 heteromorphism.Congenital afibrinogenemiaRare inherited disorder causing uncontrollable bleeding due to fibrinogen deficiency.
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