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Gerodermia osteodysplastica (GO), also called geroderma osteodysplasticum and Walt Disney dwarfism,[1] is a rare autosomal recessive[2] connective tissue disorder included in the spectrum of cutis laxa syndromes.[3][2]
Usage of the name “Walt Disney dwarfism” is attributed to the first known case of the disorder, documented in a 1950 journal report, in which the authors described five affected members from a Swiss family as having the physical appearance of dwarves from a Walt Disney film.[4][5]
The terms “geroderma” or “gerodermia” can be used interchangeably with “osteodysplastica” or “osteodysplasticum”, with the term “hereditaria” sometimes appearing at the end.[1][6]
Gerodermia osteodysplastica is characterized by symptoms and features which affect the connective tissues, skin and skeletal system.
These are: wrinkly, loose skin over the face, abdomen, and extremites (hands, feet) on the dorsal sides usually worsened by chronic joint laxity and hyperextensibility;[7][8] fragmented elastic fibers of the skin that are reduced in number, with disorientation of collagen fibers;[9] osteopenia and osteoporosis, with associated fractures;[6][7] malar hypoplasia (underdeveloped cheek bone),[10] maxillary hypoplasia (underdeveloped upper jaw),[6] mandibular prognathism (protrusion of the lower jaw and chin),[10][11] bowed long bones,[6] platyspondyly (flattened spine) related to vertebral collapse;[12][6] kyphoscoliosis (scoliosis with kyphosis, or “hunch back”),[12] metaphyseal peg (an unusual outgrowth of metaphyseal tissue which protrudes into the epiphyseal region of the bone, near the knee);[13] and the overall physical effects and facial appearance of dwarfism with premature aging.[5][14]
Other features and findings include: intrauterine growth retardation,[8] congenital hip dislocations,[8] winged scapulae (shoulder blades),[12] pes planus (fallen arches),[12] pseudoepiphyses of the second metacarpals (upper bone of the fingers),[12] hypotelorism (closely-set eyes),[7] malformed ears,[14] developmental delay,[8] failure to thrive[7] and abnormal electroencephalograph (EEG) readings.[14]
Dental and orthodontal abnormalities in addition to maxillary hypoplasia and mandibular prognathism have also been observed in gerodermia osteodysplastica. Including malocclusion of the dental arches (the maxilla and mandible),[12] radiological findings in some cases have indicated significant overgrowth of the mandibular premolar and molar roots;[11] hypercementosis (overproduction of cementum) of the molars and maxillary incisors;[11] enlarged, funnel-shaped mandibular lingula (spiny structures on the ramus of the mandible);[11] and a radiolucent effect on portions of many teeth, increasing their transparency to x-rays.[11]
Many features of gerodermia osteodysplastica (GO) and another autosomal recessive form of cutis laxa, wrinkly skin syndrome (WSS, Online ‘Mendelian Inheritance in Man’ (OMIM) 278250), are similar to such an extent that both disorders were believed to be variable phenotypes of a single disorder.[7][8]
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