Microcephaly-cervical spine fusion anomalies syndrome

Definition

Orphanet

Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.

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Symptoms

Medical Term Other Names Description
Fused cervical vertebrae Fused neck, Fusion of cervical vertebrae, Cervical spine fusion, Cervical vertebral fusion [more] A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.
Low-set ears Melotia, Lowset ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
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.
Micrognathia Lower jaw hypoplasia, Mandibular deficiency, Retrusion of lower jaw, Hypoplastic mandible condyle, Small mandible, Decreased projection of lower jaw, Micrognathia of lower jaw, Mandibular retrognathia, Mandibular retrusion, Decreased size of lower jaw, Micromandible, Underdevelopment of lower jaw, Hypotrophic mandible, Hypotrophic lower jaw, Robin mandible, Little mandible, Underdevelopment of mandible, Small jaw, Decreased size of mandible, Hypoplastic mandible, Little lower jaw, Decreased projection of mandible, Mandibular micrognathia, Lower jaw retrognathia [more] Developmental hypoplasia of the mandible.
Convex nasal ridge Beaked nose, Polly beak nasal deformity, Hooked nose, Convex dorsum of nose, Convex nasal dorsum, Beaklike protrusion [more] Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
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).
Cervicitis Uterine cervix inflammation, Uterine cervicitis Inflammation of the uterine cervix.
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.
Spinal cord compression External mechanical compression of the spinal cord.

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