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