An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. [nectarmutation.org]

An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. [nectarmutation.org]

It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations. [ read more ] 12881513 15523624 [nectarmutation.org]

[…] constriction XLD CHM #303100 CHRISTIAN SYNDROME Cranial nerve VI palsy X-linked - %309620 CHRISTIANSON SYNDROME Ophthalmoplegia, deep-set eyes, bushy eyebrows XLD SLC9A6 #300243 CK SYNDROME Strabismus, epicanthal folds, upslanting palpebral fissures, almond-shaped [eyewiki.aao.org]

narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. [orpha.net]

narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. [orpha.net]

Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. [orpha.net]

Attention deficits, Attention-Deficit Hyperactivity Disorder, and intellectual disabilities. Dev Disabil Res Rev. 2008; 14(4):285-92. PMID: 19072752. View in: PubMed Charlot L, Deutsch CK, Albert A, Hunt A, Connor DF, McIlvane WJ. [profiles.umassmed.edu]

Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. [orpha.net]

Other signs include: Lethargy Mild leg soreness Muscle and joint pain Headaches Moodiness and irritability Decreased appetite Sudden drop in performance Compromised immune system, which results in an increased number of colds Increased number of injuries [insidetracker.com]

Sinus arrest. The sinus node activity pauses, causing skipped beats. Bradycardia-tachycardia syndrome. The heart rate alternates between abnormally fast and slow rhythms, usually with a long pause (asystole) between heartbeats. [mayoclinic.org]