X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

Definition

Orphanet

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome is characterised by moderate intellectual deficit, marked cubitus valgus, mild microcephaly, a short philtrum, deep-set eyes, downslanting palpebral fissures and multiple nevi. Less than ten individuals have been described so far. Transmission is thought to be X-linked recessive.

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Symptoms

Medical Term Other Names Description
Mild microcephaly Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).
Cubitus valgus Outward turned elbows Abnormal positioning in which the elbows are turned out.
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.
Short philtrum Decreased height of philtrum, Vertical hypoplasia of philtrum, Decreased vertical dimension of philtrum, Decreased length of philtrum [more] Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
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.
Nevus Mole, Naevi, Naevus, Nevi [more] A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin.
Deeply set eye Deep-set eyes, Sunken eye, Ocular depression, Enophthalmos [more] An eye that is more deeply recessed into the plane of the face than is typical.

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