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Autosomal dominant inherited syndrome with maxillary hypoplasia, mild malar hypoplasia, cleft lip/palate, choanal atresia, hearing loss, photophobia and blepharophimosis, dacryocystitis, cryptorchidism, hypogonadotropic hypogonadism renal agenesis or dysplasia, hydronephrosis, occasionally mental retardation, central diabetes insipidus.

EEC Syndrome; Cleft Lip/Cleft Palate-LobsterClaw Deformity Syndrome; Ectrodactyly-Cleft Lip/Palate Syndrome; Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome; Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome; Split Hand-Cleft Lip/Palate and Ectodermal (SCE) Dysplasia; Walker-Clodius Syndrome.

More than 250 cases have been published in the medical literature.

Autosomal dominant inheritance with variable phenotypic expression. The gene locus has been mapped to 7p11.2-q21.3 (EEC1). The chromosome 19-linked variety is referred to as EEC2. EEC3 has been mapped to 3q27, which is also the location for the limb-mammary and the ADULT Syndrome. A number of sporadic cases have been described.

Cardinal features are ectrodactyly of hands and feet, ectodermal dysplasia with severe keratitis, and cleft lip/palate. There are variable manifestations, and no sign is obligatory for the diagnosis.

Facial features included cleft lip with or without cleft palate (72% of patients), maxillary hypoplasia, mild malar hypoplasia, partial anodontia, microdontia, and choanal atresia. Mental retardation (7%), growth hormone deficiency, hypopituitarism, and central diabetes insipidus (rare) are additional features. Genitourinary malformations (50% of patients) include renal dysplasia and agenesis. Conductive hearing loss is present in approximately 14% of patients. Lacrimal duct anomalies result in repeated infections of the eyes. Ectodermal dysplasia consists of complete/partial adontia, microdontia, oligodontia, enamel hypoplasia, dental caries, and slow-growing, dysplastic nails. Feeding difficulties in the presence of the cleft predispose to pulmonary aspiration and subsequent chest infections. Malnutrition and anemia are major problems resulting from poor oral intake and loss of proteins from skin ulcers. Hypohidrosis secondary to hypoplastic sweat glands may result in abnormal body temperature regulation. Abnormal bleeding tendency has been reported.

Perform a thorough examination to exclude active infections commonly involving the chest, urinary system, or eyes. Chest physiotherapy may be required to help clear retained copious secretions (recurrent aspirations). Assess airway for difficult intubation that may be related to clefting. Because an abnormal bleeding tendency may occur, the patient's blood should be crossed and typed, and blood should be readily available for transfusion. Chest radiograph, complete blood count with white cell differentiation, coagulation screen, and urinalysis should be obtained prior to anesthesia. Cooperation may be limited in patients with mental retardation and hearing impairment (approximately 10% of patients). Sedative and/or anxiolytic premedication and/or the presence of the primary caregiver during induction of anesthesia may be helpful.

Difficult laryngoscopy and tracheal intubation may be associated with cleft lip/palate and maxillary hypoplasia. Avoid trauma to the cleft with the laryngoscope blade. Tracheal intubation and controlled ventilation with humidification are essential to cope with the often thick and copious secretions. Wide fluctuations of body temperature secondary to impaired thermoregulation may require close monitoring and facilities to maintain normothermia. The fragile skin condition secondary to malnutrition requires extreme care ...

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