Richards-rundle syndrome

Preferred Label : Richards-rundle syndrome;

Symbol : RRNS;

CISMeF acronym : RRNS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Ataxia-deafness-mental retardation syndrome;

Description : Richards and Rundle (1959) described a family in which 5 of 13 offspring of a marriage of first cousins once removed had ketoaciduria, mental retardation, underdevelopment of secondary sex characteristics, deafness, ataxia, and peripheral muscle wasting. See also the report of Matthews (1950). The condition progressed in childhood but eventually became static. It represented no risk to life. Richards and Rundle (1959) found in the literature a description of a brother and sister who probably had the same condition (Koennecke, 1920). Sylvester (1972) studied 2 of the sibs reported by Richards and Rundle (1959). The neuropathologic findings suggested the Roussy-Levy syndrome (180800). See Berman et al. (1974) and 208850 for a similar disorder. *FIELD* RF 1. Berman, W.; Haslam, R. H. A.; Konigsmark, B. W.; Capute, A. J. : Progressive ataxia, hearing loss and mental retardation in three brothers (variant Richards-Rundle syndrome). Birth Defects Orig. Art. Ser. X(4): 345-346, 1974. 2. Koennecke, W.: Friedreichsche Ataxie und Taubstummheit. Z. Neurol. Psychiat. 53: 161-165, 1920. 3. Matthews, W. B.: Familial ataxia, deaf-mutism, and muscular wasting. J. Neurol. Neurosurg. Psychiat. 13: 307-311, 1950. 4. Richards, B. W.; Rundle, A. T.: A familial hormonal disorder associated with mental deficiency, deaf mutism and ataxia. J. Ment. Defic. Res. 3: 33-55, 1959. 5. Sylvester, P. E.: Spino-cerebellar regeneration, hormone disorder, hypogonadism, deaf-mutism and mental deficiency. J. Ment. Defic. Res. 16: 203-214, 1972. *FIELD* CS Neuro: Mental retardation; Ataxia Endo: Secondary sex characteristics underdeveloped;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Low urinary excretion of neutral 17-ketosteroids;

Prefixed ID : %245100;

Details

Origin ID

245100;

UMLS CUI

C0796136;

Automatic exact mappings (from CISMeF team)
- Richards-Rundle syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Richards-Rundle syndrome [MeSH concept]
- Richards-Rundle syndrome [MeSH Supplementary Concept]
- Richards-Rundle syndrome [ORDO Disease]
- Richards-Rundle syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Absence of secondary sex characteristics [HPO term]
- Aggressive behavior [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Atrophy of the spinal cord [HPO term]
- Autosomal recessive inheritance [HPO term]
- Deafness [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypogonadism [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Ketonuria [HPO term]
- Mutism [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Primary amenorrhea [HPO term]
- Progressive [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Richards-Rundle syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Richards-Rundle syndrome [ORDO Disease]
- Richards-Rundle syndrome [MeSH Supplementary Concept]
- Richards-Rundle syndrome [MeSH concept]
- Richards-Rundle syndrome (disorder) [SNOMED CT concept]

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