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Cartilage-hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia is a rare form of dwarfism. It is inherited in an autosomal recessive manner (see the genetics section for further details). This form of dwarfism was first described in the Old Order Amish in the United States. In the Amish, the incidence of CHH is 1.5 in 1,000births. CHH is also found in Finland at a high frequency, approximately1 in 23,000 births. CHH is characterized by short limb short stature, fine, sparse hair, impaired immunity, and anemia. At birth, weight is normal but length is decreased. Individuals with CHH have a long trunk in relation to short limbs. All segments of the limbs are shortened (i.e. the upper arm, forearm, and hands are shortened, in contrast to achondroplasia where only the upper parts of the limbs are shortened). Adult height ranges from 103cm to 149cm(median adult female height is 123 cm and median adult male height is 131cm).
Diastrophic dysplasia (DTD) is a chondrodysplasia causing severe growth retardation, and structural and functional abnormalities of joints. Growth retardation and joint abnormalities are already present in utero, and mean height at birth is 32.5 cm. Extremities are short while the trunk is of normal size, upper arms show ulnar deviation with stiff fingers and a "hitchhiker" thumb. Hips are stiff and most patients have club foot. A cleft palate is frequent. Growth remains slow, the median adult height for males is 135 cm and 129 cm for females. Changes in the joints often progress with age and corrective surgery becomes necessary.
Ellis-van Creveld syndrome, also known as "chondroectodermal dysplasia", is a rare genetic disorder characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation, and often prenatal eruption of the teeth. Ellis-van Creveld syndrome is most often seen among the Old Order Amish community in Lancaster County, Pennsylvania.
Mulibrey nanism (MUscle-LIver-BRain-EYe nanism) is a rare growth disorder of prenatal onset caused by mutations in the TRIM37 gene. Mulibrey nanism is inherited autosomally recessively, and is characterized by prenatal-onset growth failure, constrictive cardiopathy, hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the retinal midperiphery, and typical appearance.
Russell-Silver Syndrome is a very rare genetic disorder characterized by growth delays before birth (prenatal or intrauterine growth retardation); overgrowth of one side of the body (hemihypertrophy or asymmetry); unusual characteristic facial features; and other physical abnormalities.
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These groups, communities, or meeting places provide an opportunity for people with a common experience (such as a condition or disease, or a care-giving role) to share their concerns, and to seek and offer information and advice.
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Last update: Sunday, May 22, 2016 3:24:03 AM EDT - edit