Biomaterial Database

Mental retardation, craniofacial dysmorphism, hypogonadism, diabetes mellitus and epilepsy in four siblings. A "new" mental retardation syndrome. 1990

J P Fryns, and A Vogels, and H van den Berghe

Centre for Human Genetics, University of Leuven, Belgium.

In this report we describe a distinct and apparently new mental retardation syndrome in four siblings: three brothers and one sister. They present slight to moderate mental retardation associated with a peculiar craniofacial dysmorphism (4/4), hypergonadotrophic hypogonadism (4/4), eunuchoid habitus (4/4), diabetes mellitus (4/4) and epilepsy (3/4).

UI	MeSH Term	Description	Entries
D007006	Hypogonadism	Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).	Hypergonadotropic Hypogonadism,Hypogonadism, Isolated Hypogonadotropic,Hypogonadotropic Hypogonadism,Hypogonadism, Hypergonadotropic,Hypogonadism, Hypogonadotropic
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
D003294	Seizures, Febrile	Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)	Convulsions, Febrile,Febrile Seizures,Pyrexial Seizure,Febrile Convulsion Seizure,Febrile Fit,Fever Convulsion,Fever Seizure,Pyrexial Convulsion,Seizure, Febrile, Complex,Seizure, Febrile, Simple,Convulsion, Febrile,Convulsion, Fever,Convulsion, Pyrexial,Convulsions, Fever,Convulsions, Pyrexial,Febrile Convulsion,Febrile Convulsion Seizures,Febrile Convulsions,Febrile Fits,Febrile Seizure,Fever Convulsions,Fever Seizures,Fit, Febrile,Fits, Febrile,Pyrexial Convulsions,Pyrexial Seizures,Seizure, Febrile,Seizure, Febrile Convulsion,Seizure, Fever,Seizure, Pyrexial,Seizures, Febrile Convulsion,Seizures, Fever,Seizures, Pyrexial
D003922	Diabetes Mellitus, Type 1	A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.	Diabetes Mellitus, Brittle,Diabetes Mellitus, Insulin-Dependent,Diabetes Mellitus, Juvenile-Onset,Diabetes Mellitus, Ketosis-Prone,Diabetes Mellitus, Sudden-Onset,Diabetes, Autoimmune,IDDM,Autoimmune Diabetes,Diabetes Mellitus, Insulin-Dependent, 1,Diabetes Mellitus, Type I,Insulin-Dependent Diabetes Mellitus 1,Juvenile-Onset Diabetes,Type 1 Diabetes,Type 1 Diabetes Mellitus,Brittle Diabetes Mellitus,Diabetes Mellitus, Insulin Dependent,Diabetes Mellitus, Juvenile Onset,Diabetes Mellitus, Ketosis Prone,Diabetes Mellitus, Sudden Onset,Diabetes, Juvenile-Onset,Diabetes, Type 1,Insulin Dependent Diabetes Mellitus 1,Insulin-Dependent Diabetes Mellitus,Juvenile Onset Diabetes,Juvenile-Onset Diabetes Mellitus,Ketosis-Prone Diabetes Mellitus,Sudden-Onset Diabetes Mellitus
D004828	Epilepsies, Partial	Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)	Abdominal Epilepsy,Digestive Epilepsy,Epilepsy, Focal,Epilepsy, Simple Partial,Focal Seizure Disorder,Gelastic Epilepsy,Partial Epilepsy,Partial Seizure Disorder,Seizure Disorder, Partial,Simple Partial Seizures,Amygdalo-Hippocampal Epilepsy,Benign Focal Epilepsy, Childhood,Benign Occipital Epilepsy,Benign Occipital Epilepsy, Childhood,Childhood Benign Focal Epilepsy,Childhood Benign Occipital Epilepsy,Epilepsy, Benign Occipital,Epilepsy, Localization-Related,Epilepsy, Partial,Occipital Lobe Epilepsy,Panayiotopoulos Syndrome,Partial Seizures, Simple, Consciousness Preserved,Rhinencephalic Epilepsy,Seizure Disorder, Focal,Subclinical Seizure,Uncinate Seizures,Abdominal Epilepsies,Amygdalo-Hippocampal Epilepsies,Benign Occipital Epilepsies,Digestive Epilepsies,Disorders, Focal Seizure,Disorders, Partial Seizure,Epilepsies, Abdominal,Epilepsies, Amygdalo-Hippocampal,Epilepsies, Benign Occipital,Epilepsies, Digestive,Epilepsies, Focal,Epilepsies, Gelastic,Epilepsies, Localization-Related,Epilepsies, Occipital Lobe,Epilepsies, Rhinencephalic,Epilepsies, Simple Partial,Epilepsy, Abdominal,Focal Epilepsies,Focal Epilepsy,Focal Seizure Disorders,Gelastic Epilepsies,Lobe Epilepsy, Occipital,Localization-Related Epilepsies,Localization-Related Epilepsy,Occipital Epilepsies, Benign,Occipital Epilepsy, Benign,Occipital Lobe Epilepsies,Partial Epilepsies,Partial Epilepsies, Simple,Partial Seizure Disorders,Partial Seizures, Simple,Rhinencephalic Epilepsies,Seizure Disorders, Focal,Seizure Disorders, Partial,Seizure, Subclinical,Seizure, Uncinate,Seizures, Simple Partial,Seizures, Subclinical,Seizures, Uncinate,Simple Partial Epilepsies,Subclinical Seizures,Uncinate Seizure
D004830	Epilepsy, Tonic-Clonic	A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)	Epilepsy, Grand Mal,Epilepsy, Major,Grand Mal Seizure Disorder,Major Motor Seizure Disorder,Seizure Disorder, Tonic Clonic,Convulsions, Grand Mal,Cryptogenic Tonic-Clonic Epilepsy,Epilepsy, Tonic-Clonic, Cryptogenic,Epilepsy, Tonic-Clonic, Familial,Epilepsy, Tonic-Clonic, Symptomatic,Familial Tonic-Clonic Epilepsy,Seizure Disorder, Grand Mal,Seizure Disorder, Major Motor,Symptomatic Tonic-Clonic Epilepsy,Tonic Clonic Convulsions,Tonic-Clonic Convulsion Disorder,Tonic-Clonic Convulsion Syndrome,Tonic-Clonic Seizure Disorder,Tonic-Clonic Seizure Syndrome,Convulsion Disorder, Tonic-Clonic,Convulsion Disorders, Tonic-Clonic,Convulsion Syndrome, Tonic-Clonic,Convulsion Syndromes, Tonic-Clonic,Convulsion, Grand Mal,Convulsion, Tonic Clonic,Convulsions, Tonic Clonic,Cryptogenic Tonic Clonic Epilepsy,Cryptogenic Tonic-Clonic Epilepsies,Disorder, Tonic-Clonic Convulsion,Disorder, Tonic-Clonic Seizure,Disorders, Tonic-Clonic Convulsion,Disorders, Tonic-Clonic Seizure,Epilepsies, Cryptogenic Tonic-Clonic,Epilepsies, Familial Tonic-Clonic,Epilepsies, Symptomatic Tonic-Clonic,Epilepsies, Tonic-Clonic,Epilepsy, Cryptogenic Tonic-Clonic,Epilepsy, Familial Tonic-Clonic,Epilepsy, Symptomatic Tonic-Clonic,Epilepsy, Tonic Clonic,Familial Tonic Clonic Epilepsy,Familial Tonic-Clonic Epilepsies,Grand Mal Convulsion,Grand Mal Convulsions,Grand Mal Epilepsy,Major Epilepsies,Major Epilepsy,Seizure Disorder, Tonic-Clonic,Seizure Disorders, Tonic-Clonic,Seizure Syndrome, Tonic-Clonic,Seizure Syndromes, Tonic-Clonic,Symptomatic Tonic Clonic Epilepsy,Symptomatic Tonic-Clonic Epilepsies,Syndrome, Tonic-Clonic Convulsion,Syndrome, Tonic-Clonic Seizure,Syndromes, Tonic-Clonic Convulsion,Syndromes, Tonic-Clonic Seizure,Tonic Clonic Convulsion,Tonic Clonic Convulsion Disorder,Tonic Clonic Convulsion Syndrome,Tonic Clonic Seizure Disorder,Tonic Clonic Seizure Syndrome,Tonic-Clonic Convulsion Disorders,Tonic-Clonic Convulsion Syndromes,Tonic-Clonic Epilepsies,Tonic-Clonic Epilepsies, Cryptogenic,Tonic-Clonic Epilepsies, Familial,Tonic-Clonic Epilepsies, Symptomatic,Tonic-Clonic Epilepsy,Tonic-Clonic Epilepsy, Cryptogenic,Tonic-Clonic Epilepsy, Familial,Tonic-Clonic Epilepsy, Symptomatic,Tonic-Clonic Seizure Disorders,Tonic-Clonic Seizure Syndromes
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
D005260	Female		Females
D005817	Genetic Counseling	An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.	Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling