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Jarcho-Levin syndrome is congenital disorder of the skeleton characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.

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XXY Syndrome

XXY syndrome or 47, XXY condition is also known as Klinefelter's syndrome is a condition in which males possess extra X sex chromosome in their genotype.

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Davidson Disease

Davidson's disease is the other name for the Microvillus inclusion disease. The condition is also referred as congenital microvillus atrophy and sometimes also called as microvillus atrophy. It is a rare genetic disorder of the small intestine in which there is absence of microvilli which serve as an important medium for absorption of various digested food.

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Acanthocheilonemiasis

Acanthocheilonemiasis is a rare tropical infectious disease caused by a parasite known as Acanthocheilonema perstans.

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Absence Defect of Limbs Scalp and Skull

Absence Defect of Limbs Scalp and Skull or Adams Oliver Syndrome is also known as Congenital Scalp Defects with Distal Limb Reduction Anomalies or Aplasia Cutis Congenita with Terminal Transverse Limb Defects. It is an extremely rare inherited disorder in which patients has defects of the scalp and abnormalities of the fingers, toes, arms, and/or legs.

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Keratolysis Exfoliativa Congenita

Keratolysis exfoliativa congenita is a rare skin disorder characterized by superficial peeling of the skin of the palms and soles in the absence of inflammation.

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Kenny Disease

Kenny Disease is a very rare inherited skeletal disorder involving thickening of the long bones of the body and with the abnormalities of the head.

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XO Syndrome

XO syndrome or Turner syndrome or Ulrich Turner syndrome is also known as gonadal dysgenesis is a group of conditions in which X chromosome shows monosomy or in other words one X chromosome is entirely deleted or may be partly deleted. It is a type of chromosomal disorder in which sex chromosomes are affected.

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XYY Chromosome Pattern

XYY Chromosome pattern is an rare chromosomal abnormality that is affecting males characterized by an extra copy of Y Chromosome ( 47 XYY).

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XLP

XLP is expanded as X-linked lymphoproliferative syndrome which is a very rare immunodeficiency disease that leads to fatal Epstein-Barr virus or EBV infection. Epstein Barr virus infection leads to infectious mononucleosis especially in childhood which may cause subsequent hypogammaglobulinemia, and predisposes a patient to markedly increased risk of lymphoma or other lymphoproliferative diseases.

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