Preferred Label : Craniotelencephalic dysplasia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Daum et al. (1958) described a 6-month-old child with frontal bone protrusion, encephalocele,
craniosynostosis, and developmental retardation. Jabbour and Taybi (1964) reported
a similarly affected child whose condition they designated craniotelencephalic dysplasia.
Hughes et al. (1983) reported 2 affected sisters and described the autopsy findings
in 1. These included septooptic dysplasia (optic nerve hypoplasia and absent septum
pellucidum), agenesis of the corpus callosum, lissencephaly, and arhinencephaly. In
1 sib, the forehead had the appearance of a frontal encephalocele. See septooptic
dysplasia (182230). *FIELD* RF 1. Daum, S.; Le Beau, J.; Minuit, P.: Dysplasie telencephalique
avec excroissance de l'os frontal. Sem. Hop. Paris 34: 1893-1896, 1958. 2. Hughes,
H. E.; Harwood-Nash, D. C.; Becker, L. E.: Craniotelencephalic dysplasia in sisters:
further delineation of a possible syndrome. Am. J. Med. Genet. 14: 557-565, 1983.
3. Jabbour, J. T.; Taybi, H.: Craniotelencephalic dysplasia. Am. J. Dis. Child. 108:
627-632, 1964. *FIELD* CS;
Inheritance : Autosomal recessive;
Prefixed ID : 218670;
Origin ID : 218670;
UMLS CUI : C1857471;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
