Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Also known as: Primrose syndrome



Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

Go To Source: Orphanet


Medical Term Other Names Description
Macrocephaly Big skull, Increased size of head, Large head, Increased size of skull, Large head circumference, Big head, Large calvaria, Increased size of cranium, Large skull, Big cranium, Large cranium, Big calvaria, Macrocrania, Megacephaly [more] Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Insulin-resistant diabetes mellitus Insulin-resistant diabetes A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels.
Downslanted palpebral fissures Downslanting palpebral fissure, Downward slanted palpebral fissures, Antimongoloid slant of palpebral fissures, Downward slanting palpebral fissures, Down-slanting palpebral fissure, Downward slanting of the opening between the eyelids, Antimongoloid slanted palpebral fissures, Palpebral fissures down-slanted, Antimongoloid eye slant [more] The palpebral fissure inclination is more than two standard deviations below the mean.
Increased size of the mandible Large jaw
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).
Flexion contracture Contracture, Flexion contractures of joints, Joint contractures [more] A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Hypothyroidism Low T4, Underactive thyroid Deficiency of thyroid hormone.
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.
Ataxia Cerebellar ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Insulin resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Tall stature Accelerated linear growth, Increased body height, Increased linear growth [more] A height above that which is expected according to age and gender norms.
Cerebral calcification Brain calcification, Intracranial calcification, Intracerebral calcifications [more] The presence of calcium deposition within brain structures.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Cataract Lens opacities, Lens opacity, Cloudy lens [more] A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Behavioral abnormality Psychiatric disturbances, Behavioral problems, Behavioral/psychiatric abnormalities, Behavioural/Psychiatric abnormality [more] An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Sparse body hair Sparseness of the body hair.
Skeletal muscle atrophy Muscle atrophy, neurogenic, Neurogenic muscle atrophy, especially in the lower limbs, Muscle degeneration, Muscular atrophy, Muscle atrophy, Muscle hypotrophy, Neurogenic muscular atrophy, Muscle wasting, Amyotrophy involving the extremities, Amyotrophy [more] The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Aggressive behavior Aggressiveness, Aggressive behaviour, physical aggression, Aggression [more] Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself.
Broad forehead Increased bitemporal width, Increased bitemporal dimension, Wide forehead, Increased width of the forehead, Intertemporal widening, Bitemporal widening [more] Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies, Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components.
Distal amyotrophy Distal muscular atrophy, Distal muscle degeneration, Distal amyotrophy, especially of the hands and feet, Distal muscle atrophy, Distal limb muscle atrophy, Distal muscle atrophy, upper and lower limbs, Amyotrophy of distal limb muscles, Distal muscle wasting [more] Muscular atrophy affecting muscles in the distal portions of the extremities.
Peripheral neuropathy Neuropathy, Peripheral neuritis, Peripheral nerve damage [more] Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Myopathy Muscle tissue disease, Myopathic changes A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.

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