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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.
Treatment Thyroid hormone replacement, Speech therapy [ 3 ] Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital disorder characterized by severe mental retardation , brachycephaly, upslanting palpebral fissures , eye abnormalities, and ...
ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. [3] Other frequent symptoms observed in individuals with ICF syndrome include intellectual disability, recurrent and prolonged respiratory infections, and integumentary and digestive system infections. [4]
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome.
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q 34 have been associated with childhood hypotonia , a distinctive facial appearance and developmental disability .
Okamoto syndrome; Other names: Au–Kline syndrome (AKS), [1] neurodevelopmental disorder–craniofacial dysmorphism–cardiac defect–skeletal anomalies syndrome, [2] congenital hydronephrosis with cleft palate, characteristic facies, hypotonia and mental retardation [3] Boy with Okamoto syndrome, showing the characteristic facial features ...
Cenani–Lenz syndactylism is inherited in an autosomal recessive manner. [1] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.
Nezelof syndrome is an autosomal recessive [6] congenital immunodeficiency condition due to underdevelopment of the thymus. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase .