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Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome , people with CCA typically have an arm span that is greater than their height and very long fingers and toes . [ 2 ]
Aarskog–Scott syndrome (AAS) is a rare disease inherited as X-linked and characterized by short stature, facial abnormalities, skeletal and genital anomalies. [2] This condition mainly affects males, although females may have mild features of the syndrome.
Asplenia with cardiovascular anomalies, also known as Ivemark syndrome and right atrial isomerism, [1] is an example of a heterotaxy syndrome. These uncommon congenital disorders are characterized by defects in the heart, spleen and paired organs such as the lungs and kidneys.
This syndrome is referred to as "cat eye" due to the eye appearance of reported affected individuals who have coloboma of the iris, but this feature is only seen in about half of the cases. Mosaic trisomy 22 [ 7 ] is a disorder in which an extra chromosome 22 is found only in some cells of the body.
The average IQ of individuals with 16p11.2 deletion syndrome is approximately 2 standard deviations below that of family members without the deletion. [4] Many have language disorders and motor speech disorders including dysarthria and apraxia. [1] Half of affected individuals have at least one psychiatric or behavioral diagnosis.
Individuals with PKS present prenatally or at birth with multiple birth defects.These defects include: brain atrophy, agenesis of the corpus callosum, polymicrogyria of the brain, and/or spot calcifications in the brain's lateral sulcus; deafness and/or blindness; autonomic nervous system dysfunctions such as anhidrosis, hypohidrosis, and/or episodic spells of hyperventilation interspersed ...
Kleefstra syndrome affects males and females equally and approximately 75% of all documented cases are caused by Eu-HMTase1 disruptions while only 25% are caused by 9q34.3 deletions. [3] There are no statistics on the effect the disease has on life expectancy due to the lack of information available. [3]
Complete trisomy 8 causes severe abnormalities in the developing fetus and can be a cause of miscarriage. [2] [3] Complete trisomy 8 is usually a gestational lethal condition, whereas trisomy 8 mosaicism is less severe and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. [4]