The following Conditions are related to Short stature

Select a specific condition below to view its details.

  • Coffin syndrome

    Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities. Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes  Read More

  • Diastrophic dysplasia

    Diastrophic dysplasia, which is also known as disastrophic dwarfism, is a rare disorder that is present at birth (congenital). The range and severity of associated symptoms and physical findings may vary greatly from case to case. However, the disorder is often characterized by short stature and unusually short arms and legs (short-limbed dwarfism); abnormal development of bones (skeletal dysplasia) and joints (joint dysplasia) in many areas o  Read More

  • Dubowitz syndrome

    Dubowitz syndrome is a very rare genetic and developmental disorder involving multiple congenital (inherited) anomalies including but not limited to: (1) growth failure/short stature; (2) unusual but characteristic facial features; (3) a small head (microencephaly); (4) mild (usually) mental retardation; and (5), in at least 50% of the cases, eczema. Multiple organ systems are affected and the disorder is unpredictable and extremely variable i  Read More

  • Hypercalcemia-supravalvar aortic stenosis

    Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial features may include a round face, full cheeks, thick lips, a large mouth that is usually held open,  Read More

  • Juberg-marsidi mental retardation syndrome

    Juberg-Marsidi syndrome is an extremely rare X-linked genetic disorder that is fully expressed in males only, and is apparent at birth (congenital) or during the first few weeks of life (neonatal period). Affected children exhibit severe mental retardation; delays in reaching developmental milestones (e.g., crawling, walking, etc.); muscle weakness; diminished muscle tone (hypotonia); and/or delayed bone growth as well as growth retardation, r  Read More

  • Lowe-terry-maclachlan syndrome

    Lowe-Terry-Maclachlan syndrome is a rare genetic disorder that causes abnormalities in the development of the skeleton, eyes, and other parts of the body.There are four risk factors for Lowe-terry-maclachlan syndrome:1. Genetic predisposition. The disease is caused by a mutation in the TSC1 or TSC2 gene. If one or both parents have the gene, their children are more likely to develop it.2. Ce  Read More

  • Monosomy 9p partial

    Monosomy 9p partial is a rare chromosomal disorder that affects an estimated 1 in every 500,000 births. It occurs when one of the two copies of chromosome 9 is missing or incomplete. The most common symptoms are mental retardation, speech impairment and learning disabilities. The name “monosomy 9p” refers to the fact that there are only two copies (instead of the usual three) of the short arm of chromo  Read More

  • Short stature-hyperextensibility-rieger

    SHORT syndrome is a condition in which affected individuals have multiple birth defects in different organ systems. The term SHORT is an acronym with each letter representing one of the common findings in affected persons:(S)= short stature(H)= hyperextensibility of joints and/or hernia (inguinal)(O)= ocular depression(R) =Rieger anomaly(T) =teething delayOther characteristics common in SHORT syn  Read More