Biomaterial Database

Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation. 1988

H Hauss-Albert, and E Passarge

Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.

UI	MeSH Term	Description	Entries
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
D008831	Microcephaly	A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)	Microlissencephaly,Severe Congenital Microcephaly,Congenital Microcephalies, Severe,Congenital Microcephaly, Severe,Microcephalies,Microcephalies, Severe Congenital,Microcephaly, Severe Congenital,Microlissencephalies,Severe Congenital Microcephalies
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D003394	Craniofacial Dysostosis	Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.	Crouzon's Disease,Dysostosis, Craniofacial,Craniofacial Dysarthrosis,Craniofacial Dysostosis Syndrome,Craniofacial Dysostosis Type 1,Craniofacial Dysostosis, Type I,Crouzon Craniofacial Dysostosis,Crouzon Disease,Crouzon Syndrome,Craniofacial Dysarthroses,Craniofacial Dysostoses,Craniofacial Dysostosis Syndromes,Craniofacial Dysostosis, Crouzon,Crouzons Disease,Dysarthroses, Craniofacial,Dysarthrosis, Craniofacial,Dysostoses, Craniofacial
D004827	Epilepsy	A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)	Aura,Awakening Epilepsy,Seizure Disorder,Epilepsy, Cryptogenic,Auras,Cryptogenic Epilepsies,Cryptogenic Epilepsy,Epilepsies,Epilepsies, Cryptogenic,Epilepsy, Awakening,Seizure Disorders
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