The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Genetic diseases are determined by two genes, one received from the father and one from the mother.Дominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease.

Trichorhinophalangeal syndrome type I is a rare genetic disorder with autosomal dominant inheritance. In some cases, affected individuals may also experience frequent respiratory infections. Individuals with TRPS1 may also exhibit other physical abnormalities including abnormal prominence of the breast bone (pectus carinatum), an unusual вЂњwing-likeвЂќ shape of the shoulder blades (scapula), abnormal side-to-side curvature of the spine (scoliosis), and/or backward curvature of the spine (lordosis). (For more information on Legg-Calve-Perthes disease, see the Related Disorders section of this report.) These include progressive degeneration of the end portion (head) of the thigh bone (capital femoral epiphyseal osteonecrosis). Some individuals with TRPS1 may develop hip problems similar to those of people with Legg-Calve-Perthes disease. In some cases, affected individuals may develop pain and limitation of movements in the hips and/or hands inflammation and swelling (arthritis) in the fingers, elbows, and/or spine may also develop. In rare cases, affected individuals may also have an abnormally short forearm bone (ulna) and/or flat feet (pes planus).ДЄs individuals with TRPS1 age, most exhibit delayed bone age and growth retardation, resulting in short stature. In some cases, the nails may be unusually thin and malformed (dysplastic). In addition, certain bones in the hands (metacarpals) and feet (metatarsals) may be abnormally short and curved. In most cases, affected individuals exhibit abnormalities of the fingers and/or toes including permanent fixation of the fifth fingers in a bent position (clinodactyly) and/or abnormal вЂњcone-shapedвЂќ bones in the fingers (middle phalanges) and toes (epiphyseal coning). In some cases, extra (supernumerary) teeth may also be present. Affected individuals may also have abnormally large (prominent) ears, an unusually small lower jaw (micrognathia), and/or small, discolored, and abnormally soft (carious) teeth that may be abnormally positioned (malocclusion). In many cases, the eyebrows may be unusually thick near the nose and abnormally sparse by the temples.Д¬haracteristic facial features may include a rounded (bulbous), вЂњpear-shapedвЂќ nose a thin upper lip an abnormally long groove (philtrum) on the upper lip, and/or a groove in the chin. Affected individuals may lose most or all of their scalp hair (alopecia) at a young age, in some cases, by the second decade of life. The hair of affected infants may be markedly thin and sparse at birth (congenital) and is usually fine and brittle and/or may grow slowly. Most cases are characterized by thin, sparse scalp hair, unusual facial features, and multiple abnormalities affecting the вЂњgrowing endsвЂќ (epiphyses) of certain bones, especially those in the hands and feet. The range and severity of symptoms of individuals with trichorhinophalangeal syndrome type I may vary from case to case. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.

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