Deafness-dwarfism-retinal atrophy or Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. 1. The signs and symptoms of this condition are usually apparent from infancy, and they worsen over time. 2. Most affected individuals have an  Read More

Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects. Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include: Flattened face  Read More

Holoprosencephaly is a neuroanatomical malformation of the forebrain or frontal lobe. Impaired signaling between the neural crest and neural ectoderm is the cause of the disorder. it occurs during the period of gastrulation, two or three weeks after conception. Incomplete midline cleavage of the forebrain and craniofacial midline defects are the primary clinical features. Many genetic defects have been attributed to the disease. Nongenetic causes  Read More

Microcephaly is a condition where the head (circumference) is smaller than normal. Microcephaly may be caused by genetic abnormalities or by drugs, alcohol, certain viruses, and toxins that are exposed to the fetus during pregnancy and damage the developing brain tissue. Signs and symptoms of microcephaly may include a smaller than normal head circumference that usually remains smaller than normal as the child grows, d  Read More

Chromosome 18, Monosomy 18p is a rare chromosomal disorder in which all or part of the short arm (p) of chromosome 18 is deleted (monosomic). The disorder is typically characterized by short stature, variable degrees of mental retardation, speech delays, malformations of the skull and facial (craniofacial) region, and/or additional physical abnormalities. Associated craniofacial defects may vary greatly in range and severity from case to case.  Read More

Short stature, delayed puberty in men, small heads, seizures, learning problems, underdeveloped sex organs, susceptibility to infections, and/or short hair are some signs and symptoms of Ring chromosome 21 that may be present.Some persons exhibit traits and symptoms resembling those of others with Down syndrome. Ring chromosome 21 can be randomly acquired (by chance) during the development of egg or sperm cells or  Read More