X-linked intellectual disability, Cabezas type

Also known as: Cabezas syndrome

Definition

Orphanet

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Joint hypermobility Double-Jointed, Extensible joints, Increased mobility of joints, Flexible joints, Joint hyperextensibility, Hyperextensible joints [more] The ability of a joint to move beyond its normal range of motion.
Kyphosis Gibbus deformity, Hyperkyphosis, Round back, Hunched back [more] Exaggerated anterior convexity of the thoracic vertebral column.
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).
Gait disturbance Abnormal gait, Abnormal walk, Impaired gait, Gait difficulties [more] The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Thick lower lip vermilion Thick red part of the lower lip, Thick lower lip, Increased volume of lower lip, Prominent lower lip vermilion, Full lower lip, Plump lower lip, Prominent lower lip, Increased height of lower lip vermilion, Thick vermilion border of lower lip, Full lower lip vermilion, Increased volume of lower lip vermilion [more] Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective).
Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis.
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).
Decreased testicular size Small testis, Testicular hypoplasia, Hypoplastic testes, Small testes [more] Reduced volume of the testicle (the male 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.

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