Urioste syndrome

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Urioste syndrome
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Specialty scores for Urioste syndrome

Overview

Urioste syndrome is a rare medical syndrome characterized by persistence of mullerian derivatives with renal and craniofacial anomalies with lymphangiectasis, hepatic failure and postaxial polydactyly. The signs and symptoms are observable soon after birth and the disease has a poor prognosis in general.

Incidence:

Exact incidence of Urioste syndrome is not known.

Prevalence:

Urioste syndrome is a very rare disorder and the exact prevalence is not known.

Causes:

Urioste syndrome is caused due to genetic abnormalities leading to persistence of mullerian derivatives.

Risk factors:

Positive family history of Urioste syndrome is a strong risk factor.

Signs and symptoms:

Signs and symptoms of Urioste sydrome include muscular hypotonia (low or weak muscle tone), hepatic failure, postaxial hand polydactyly (extra little finger), abdominal distention, midface retrusion (decreased size of midface), ascites (accumulation of fluid in the abdomen), cleft palate, cryptorchidism (undescended testes), infantile death, overgrowth of gum ridge, redundant neck skin (excess neck skin), short neck, smooth philtrum, splenomegaly, hepatomegaly (enlarged liver), elevated palate, hydronephrosis, hypertelorism (wide-set eyes), hypertrichosis and hypocalcemia (low blood calcium levels).

Other clinical features may include hypoproteinemia, inguinal hernia, low set ears, lymphedema, downslanted palpebral fissures, malar flattening, zygomatic flattening, micrognathia, little lower jaw, micropenis (short penis), proptosis (bulging eye), protein-losing enteropathy, pulmonary lymphangiectasia, flat occiput, generalized hypotonia (decreased muscle tone), alveolar ridge overgrowth, narrow chest, pancreatic lymphangiectasis, polyhydramnios, thickened nuchal skin fold (thickened skin folds of neck), thin upper lip, thyroid lymphangiectasia, ventricular septal defect, ventriculomegaly and wide nasal bridge.

Complications:

Diagnosis:

Management:

There is no permanent cure of the disorder. The treatment is directed toward alleviation of specific symptoms that are present in each individual. Such treatment may require the coordinated efforts of a team of medical specialists, such as pediatricians, surgeons, orthopedists, neurologists, hepatologists, nephrologists, physical therapists, and other health care professionals. For some individuals, treatment may include corrective surgical procedures of hernias, skeletal defects or other malformations. The specific surgical procedures depend upon the nature, severity and location of the anatomical abnormalities. Early intervention is helpful in ensuring that affected children gradually reach their potential. Special services with beneficial clinical outcomes include physical therapy, and other medical, social, and vocational services. Symptomatic and supportive management is the mainline of treatment and genetic counseling has a beneficial role for the affected individuals and their families.

Other names of the condition:

Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly

Mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly

Renal and craniofacial anomalies with persistence of mullerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly