The key signs and symptoms associated with<unk>  patients include ocular, facial and systemic features. Ocular Features Distinctive ocular features of the<unk>  are deep-set eyes, down-slanting palpebral fissures and horizontal eyebrows. Children with<unk>  may present with vision problems including optic atrophy and cerebral visual impairment, resulting in poor visual responses. Strabismus; misalignment or crossing of the eyes when viewing an object, direct hypermetropia; farsightedness, and nystagmus; eyes making repetitive and uncontrolled movements, are frequently present. Facial Features Individuals with<unk>  have distinctive minor to moderate facial dysmorphisms. Distinct facial features include facial asymmetry, low-set ears, midface retraction, frontal bossing, a depressed and or broad nasal bridge and a smooth or short philtrum. Systemic Features Multi-system abnormalities are common in<unk> . The majority of individuals diagnosed with<unk>  display congenital malformations such as urogenital and malformations, heart defects, and a high or cleft palate. Congenital defects such as a thinned atrial septum, ventricular septal defects, patent ductus arteriosus, dysplastic kidney and agenesis of the lung and gallbladder have also been noted. Whole body musculoskeletal abnormalities have been observed in<unk>  patients, including hemivertebrae, scoliosis or kyphosis, contractures, joint laxity, joint hypermobility and hypotonia. During the neonatal period, persistent feeding difficulties is associated with growth failure and a short stature in most individuals with<unk> . Central Nervous System Developmental delay is common in<unk>  patients, and appears to progressively increase the severity of intellectual disability with age. The development of gross and fine motor skills, as well as fluent and receptive language skills are shown to be delayed in developmental age. Macrocephaly and brain white matter abnormalities have also been observed. Seizures often develop between the ages of 1 to 6 years old. Physiological Mutations of the SON gene can affect metabolism and mitochondrial function in newborns with<unk> . Metabolic screening confirmed mitochondrial dysfunction and O-glycosylation defects in individuals with<unk> . Decreased levels of immunoglobulin A and or immunoglobulin G identified in<unk>  patients resulted in coagulation abnormalities.
ZTTK syndrome
ATR-16 syndrome
CAMFAK syndrome
ATR-X syndrome
Treacher Collins syndrome
MEDNIK syndrome
GRACILE syndrome
LIG4 syndrome