Chudley syndrome

Preferred Label : Chudley syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism;

Description : Chudley et al. (1985) described a family in which an adult brother and sister had congenital, nonprogressive myopathy due to multicore disease, severe mental retardation, short stature, and small pituitary fossa with sexual infantilism due to hypogonadotropic hypogonadism. Both had generalized mild weakness, bilateral ptosis and facial weakness, and exaggerated lumbar lordosis. Muscle biopsies showed variation in fibrodiameter, internal nuclei, atrophy of type I fibers, focal loss of cross-striations, and cores of myofibrillar disruption with associated absence of mitochondria. The parents were first cousins. Arginine, L-dopa, and propranolol stimulation resulted in normal growth hormone responses. *FIELD* RF 1. Chudley, A. E.; Rozdilsky, B.; Houston, C. S.; Becker, L. E.; Knoll, J. H.: Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism. Am. J. Med. Genet. 20: 145-158, 1985. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Normal growth hormone responses to arginine, L-dopa, and propranolol stimulation;

Prefixed ID : 253320;

Details

Origin ID

253320;

UMLS CUI

C1854663;

Currated CISMeF NLP mapping
- Chudley-Rozdilsky syndrome [MeSH concept]
- Chudley-Rozdilsky syndrome [MeSH Supplementary Concept]
- Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-myopathy-short stature-endocrine defect syndrome [ORDO Disease]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Facial palsy [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Lumbar hyperlordosis [HPO term]
- Myopathy [HPO term]
- Ptosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Intellectual disability-myopathy-short stature-endocrine defect syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chudley-Rozdilsky syndrome [MeSH Supplementary Concept]
- Chudley-Rozdilsky syndrome [MeSH concept]
- Intellectual disability, myopathy, short stature, endocrine defect syndrome (disorder) [SNOMED CT concept]
- Intellectual disability-myopathy-short stature-endocrine defect syndrome [ORDO Disease]

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