The University of Chicago Genetic Services Laboratories KIAA1279
... syndrome include epilepsy, cortical malformations and agenesis of the corpus callosum which have not been well characterized in patients with GOSHS. Despite some resemblance to GOSHS, Shprintzen-Goldberg craniosynostosis syndrome (SGS, OMIM #182212) tends to associate with craniofacial or skeletal a ...
... syndrome include epilepsy, cortical malformations and agenesis of the corpus callosum which have not been well characterized in patients with GOSHS. Despite some resemblance to GOSHS, Shprintzen-Goldberg craniosynostosis syndrome (SGS, OMIM #182212) tends to associate with craniofacial or skeletal a ...
Syndromic Craniosynostosis
... Early surgery is advocated for both but for different reasons: In Apert’s, early surgery is indicated to further dysmorphic growth changes in the cranial base. In Crouzon’s, early surgery is indicated for RICP. Pfeiffer’s Syndrome (Acrocephalosyndactyly Type II) Tessier refers to it as “lo ...
... Early surgery is advocated for both but for different reasons: In Apert’s, early surgery is indicated to further dysmorphic growth changes in the cranial base. In Crouzon’s, early surgery is indicated for RICP. Pfeiffer’s Syndrome (Acrocephalosyndactyly Type II) Tessier refers to it as “lo ...
The Syndrome of Frontonasal Dysplasia, Callosal Agenesis, Basal
... can be established as follow: callosal agenesis, basal encephloceles, mainly sphenoethmoidal type, always present. Facial and ocular anomalies are variable. The former ranges from mild hypertelorism with a median upper lip notch to median cleft involving the lip and the nose, and the later includes ...
... can be established as follow: callosal agenesis, basal encephloceles, mainly sphenoethmoidal type, always present. Facial and ocular anomalies are variable. The former ranges from mild hypertelorism with a median upper lip notch to median cleft involving the lip and the nose, and the later includes ...
Ectrodactyly-Ectodermal Dysplasia Clefting (EEC) Syndrome
... (EEC) Syndrome One of the relatively common ectodermal dysplasia (ED) syndromes that is more complex than others is the ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome. It is often called the EEC syndrome. The word ectrodactyly is derived from the Greek, and means congenital absence ...
... (EEC) Syndrome One of the relatively common ectodermal dysplasia (ED) syndromes that is more complex than others is the ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome. It is often called the EEC syndrome. The word ectrodactyly is derived from the Greek, and means congenital absence ...
Frontonasal dysplasia
Frontonasal dysplasia (FND) (also known as median cleft face syndrome, frontonasal dysostosis, frontonasal malformation or Tessier cleft number 0/14) is a congenital malformation of the midface.For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism (an increased distance between the eyes), a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele (an opening of the skull with protrusion of the brain) or V-shaped hair pattern on the forehead.The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.