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A syndrome characterized by congenital ichthyosis with atrophy, mental retardation, dwarfism, and generalized aminoaciduria. 1973

J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen

UI MeSH Term Description Entries
D007057 Ichthyosis Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. Xeroderma,Ichthyoses,Xerodermas
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
D009264 Nails, Malformed Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails. Onychauxis,Onychogryposis,Nail Abnormalities,Nails, Abnormal,Pachyonychia,Abnormal Nail,Abnormal Nails,Abnormalities, Nail,Abnormality, Nail,Malformed Nail,Malformed Nails,Nail Abnormality,Nail, Abnormal,Nail, Malformed
D009912 Oral Manifestations Disorders of the mouth attendant upon non-oral disease or injury. Manifestation, Oral,Manifestations, Oral,Oral Manifestation
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003241 Consanguinity The magnitude of INBREEDING in humans. Inbreeding, Human,Consanguineous Marriage,Consanguinous Mating,Consanguineous Marriages,Consanguinities,Consanguinous Matings,Human Inbreeding,Human Inbreedings,Inbreedings, Human,Marriage, Consanguineous,Marriages, Consanguineous,Mating, Consanguinous,Matings, Consanguinous
D003878 Dermatoglyphics The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles. Fingerprints,Plantar Prints,Fingerprint,Plantar Print,Print, Plantar,Prints, Plantar
D004392 Dwarfism A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height. Nanism

Related Publications

J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Congenital ichthyosis, mental retardation, dwarfism and renal impairment: a new syndrome.
July 1975, Clinical genetics,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Familial ichthyosis, dwarfism, mental retardation, and renal disease.
May 1978, The Journal of pediatrics,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Congenital ichthyosis, mental retardation and spasticity (Sjogren-Larsson syndrome).
May 1962, Canadian Medical Association journal,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation--a new genetic syndrome.
February 1987, Clinical genetics,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia.
January 1976, Birth defects original article series,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy.
May 1982, Neuropediatrics,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Aminoaciduria and mental retardation. I.
July 1961, Journal. Iowa State Medical Society,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Dicarboxylic aminoaciduria associated with mental retardation.
June 1989, Human genetics,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities. A link between the ichthyosis-associated and BIDS syndromes.
April 1980, Journal of the American Academy of Dermatology,
J Passwell, and L Zipperkowski, and D Katznelson, and A Szeinberg, and M Crispin, and S Pollak, and R Goodman, and M Bat-Miriam, and B E Cohen
Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.
December 1991, Acta paediatrica Scandinavica,
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