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Heart disorders (Congenital heart defects) Hemifacial microsomia; Holoprosencephaly; Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
Birth defect is a widely used term for a congenital malformation, i.e. a congenital, physical anomaly that is recognizable at birth, and which is significant enough to be considered a problem.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
A physical disability is a limitation on a person's physical functioning, mobility, dexterity or stamina. [1] Other physical disabilities include impairments which limit other facets of daily living , such as respiratory disorders , blindness , epilepsy [ 2 ] and sleep disorders .
Minor physical anomalies (MPAs) are relatively minor (typically painless and, in themselves, harmless) congenital physical abnormalities consisting of features such as low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.
About 3% of newborns have a "major physical anomaly", meaning a physical anomaly that has cosmetic or functional significance. [21] Developmental defects manifest in approximately 3% to 5% of newborns in the United States, between 2% to 3% of which are teratogen-induced. [22] Congenital disorders are responsible for 20% of infant deaths. [23]
Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. [1] [2] They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein.
Deformity can be caused by a variety of factors: Arthritis and other rheumatoid disorders; Chronic application of external forces, e.g. artificial cranial deformation Chronic paresis, paralysis or muscle imbalance, especially in children, e.g. due to poliomyelitis or cerebral palsy