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Palant cleft palate syndrome

Overview

A rare genetic disorder characterized by a cleft palate, unusual facial features, mental retardation and limb abnormalities.

Symptoms - Palant cleft palate syndrome

* Feeding difficulties * Retarded mental development * Retarded motor development * Developmental milestone retardation * Short stature * Cleft palate * Almond-shaped eyes * Deep-set eyes * Narrow space between eyelids * Mongoloid slant to eyes * Epicanthal folds * Bulbous nose * Low hair line * Camptodactyly of 4th and 5th fingers * Broad distal phalanges of toes * Syndactyly of 2nd and 3rd toes * Valgus foot deformity

Causes - Palant cleft palate syndrome

Cleft lip or palate most commonly occurs as an isolated birth defect. Isolated cleft lip with or without cleft palate and cleft palate only are the result of a disruption in the normal development of the orofacial structures. This disruption in development is thought to be the result of a combination of genetic and environmental factors. Cleft lip or cleft palate may also occur as part of a chromosomal or Mendelian syndrome (cleft defects are associated with over 300 syndromes). Exposures to specific teratogens during fetal development may also produce these defects. Cleft lip with or without cleft palate occurs in approximately 1 in 1,000 births among Whites; the incidence is higher in Asians (1.7 in 1,000) and Native Americans (over 3.6 in 1,000) but lower in Blacks (1 in 2,500). A family history of cleft defects increases the risk of a couple having a child with a cleft defect. Likewise, an individual with a cleft defect is at an increased risk for having a child with a cleft defect. Children with cleft defects and their parents or adult individuals should be referred for genetic counseling for accurate diagnosis of cleft type and recurrence risk counseling. Recurrence risk information is based on family history, the presence or absence of other physical or cognitive traits within a family, and prenatal exposure information.

Prevention - Palant cleft palate syndrome

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Diagnosis - Palant cleft palate syndrome

* Fever Tests * Ear Infection Tests * Flu Tests

Prognosis - Palant cleft palate syndrome

Prognosis of Palant cleft palate syndrome: severe mental and motor retardation

Treatment - Palant cleft palate syndrome

* Neonatal support is largely nutritional –Patients with velopharyngeal insufficiency are at risk for aspiration –Breastfeeding may or may not be possible depending on the location and size of the defect –Specialized bottles and nipples may be required to accomplish adequate feeding * Surgical correction (usually in 2–4 stages) with surgical priorities being prevention of regurgitation and aspiration, enabling of speech production, and cosmetic result –In patients with delayed surgical correction, a prosthesis may be necessary to compensate for velopharyngeal insufficiency and to enhance speech development –Speech therapy –Monitoring for otitis media –Referral to a geneticist for genetic testing and consideration of risk with subsequent pregnancies

Resources - Palant cleft palate syndrome

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