Intellectual disability-myopathy-short stature-endocrine defect syndrome

Also known as: Chudley-Rozdilsky syndrome

Definition

Orphanet

Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Ptosis Drooping upper eyelid, Eye drop, Blepharoptosis, Eyelid ptosis [more] The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Generalized muscle weakness Muscle weakness, diffuse, Generalized weakness [more] Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Hypogonadism Decreased activity of gonads A decreased functionality of the gonad.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Hyperlordosis Lordosis, Prominent swayback Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine.
Small sella turcica Small hypophyseal fossa, Hypoplasia of hypophseal fossa, Small pituitary fossa [more] An abnormally small sella turcica.
Lumbar hyperlordosis Lumbar lordosis, Increased lumbar lordosis, Exaggerated lumbar lordosis, Prominent lumbar lordosis [more] An abnormal accentuation of the inward curvature of the spine in the lumbar region.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Myopathy Muscle tissue disease, Myopathic changes A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Bilateral ptosis Drooping of both upper eyelids

Other Classifiers and IDs