Biomaterial Database

Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity? 1993

D Soekarman, and J P Fryns

Centre for Human Genetics, University of Leuven, Belgium.

Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial similarity to the case presented here.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D010855	Pierre Robin Syndrome	Congenital malformation characterized by MICROGNATHIA or RETROGNATHIA; GLOSSOPTOSIS and CLEFT PALATE. The mandibular abnormalities often result in difficulties in sucking and swallowing. The syndrome may be isolated or associated with other syndromes (e.g., ANDERSEN SYNDROME; CAMPOMELIC DYSPLASIA). Developmental mis-expression of SOX9 TRANSCRIPTION FACTOR gene on chromosome 17q and its surrounding region is associated with the syndrome.	Glossoptosis, Micrognathia, and Cleft Palate,Pierre Robin Sequence,Pierre Robin's Sequence,Pierre-Robin Syndrome,Robin Sequence,Pierre Robins Sequence,Robin Syndrome, Pierre,Sequence, Pierre Robin,Sequence, Pierre Robin's,Sequence, Robin,Syndrome, Pierre Robin,Syndrome, Pierre-Robin
D001921	Brain	The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.	Encephalon
D004476	Ectodermal Dysplasia	A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.	Anhidrotic Ectodermal Dysplasia,Aplasia Cutis Congenita,Clouston's Syndrome,Ectodermal Defect, Congenital,Hidrotic Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasia,Aplasia Cutis Congenita, Nonsyndromic,Autosomal Dominant Hidrotic Ectodermal Dysplasia,Clouston Hidrotic Ectodermal Dysplasia,Clouston Syndrome,Clouston's Hidrotic Ectodermal Dysplasia,Congenital Ectodermal Defect,Defect, Congenital Ectodermal,Ectodermal Dysplasia 2, Hidrotic,Ectodermal Dysplasia Anhidrotic,Ectodermal Dysplasia, Anhydrotic,Ectodermal Dysplasia, Hidrotic,Ectodermal Dysplasia, Hidrotic, Autosomal Dominant,Hidrotic Ectodermal Dysplasia, Autosomal Dominant,Hydrotic Ectodermal Dysplasia,Anhidrotic Ectodermal Dysplasias,Anhidrotic, Ectodermal Dysplasia,Anhidrotics, Ectodermal Dysplasia,Anhydrotic Ectodermal Dysplasias,Cloustons Syndrome,Congenital Ectodermal Defects,Defects, Congenital Ectodermal,Dysplasia Anhidrotic, Ectodermal,Dysplasia Anhidrotics, Ectodermal,Dysplasia, Anhidrotic Ectodermal,Dysplasia, Anhydrotic Ectodermal,Dysplasia, Ectodermal,Dysplasia, Hidrotic Ectodermal,Dysplasia, Hydrotic Ectodermal,Dysplasias, Anhidrotic Ectodermal,Dysplasias, Anhydrotic Ectodermal,Dysplasias, Ectodermal,Dysplasias, Hidrotic Ectodermal,Dysplasias, Hydrotic Ectodermal,Ectodermal Defects, Congenital,Ectodermal Dysplasia, Anhidrotic,Ectodermal Dysplasia, Hydrotic,Ectodermal Dysplasias,Ectodermal Dysplasias, Anhidrotic,Ectodermal Dysplasias, Anhydrotic,Ectodermal Dysplasias, Hydrotic,Hidrotic Ectodermal Dysplasias,Hydrotic Ectodermal Dysplasias,Syndrome, Clouston,Syndrome, Clouston's
D005147	Facial Bones	The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)	Bone, Facial,Bones, Facial,Facial Bone
D005500	Follow-Up Studies	Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.	Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013577	Syndrome	A characteristic symptom complex.	Symptom Cluster,Cluster, Symptom,Clusters, Symptom,Symptom Clusters,Syndromes