A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
Tsukuhara syndrome, also known as Radioulnar synostosis-microcephaly-scoliosis syndrome is an infrequently occurring genetic skeletal dysplasia which is characterized by a combination of radioulnar synostosis, microcephaly, scoliosis, short height, and intellectual disabilities. Only 13 cases worldwide have been described in medical literature.
Peeling skin syndrome is an autosomal recessive disorder characterized by lifelong peeling of the stratum corneum, and may be associated with pruritus, short stature, and easily removed anagen hair.
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate.
Diffuse idiopathic skeletal hyperostosis (DISH) is a condition characterized by abnormal calcification/bone formation (hyperostosis) of the soft tissues surrounding the joints of the spine, and also of the peripheral or appendicular skeleton. In the spine, there is bone formation along the anterior longitudinal ligament and sometimes the posterior longitudinal ligament, which may lead to partial or complete fusion of adjacent vertebrae. The facet and sacroiliac joints tend to be uninvolved. The thoracic spine is the most common level involved. In the peripheral skeleton, DISH manifests as a calcific enthesopathy, with pathologic bone formation at sites where ligaments and tendons attach to bone.
Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. Five different genetic mutations have been implicated in the disorder. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.
ATR-16 syndrome, also called alpha-thalassemia-Intellectual disability syndrome, is a rare disease characterized by monosomy on part of chromosome 16.
Ostravik-Lindemann-Solberg syndrome, also known as heart defect-tongue hamartoma-polysyndactyly syndrome is a rare, multi-systemic genetic disorder which is characterized by congenital heart defects, tongue hamartomas, postaxial polydactyly of the hand, and syndactylism of the foot. This condition is thought to be caused by an autosomal dominant mutation in the WDPCP gene, in chromosome 2. Only 5 cases have been recorded in medical literature.
Cleft palate short stature vertebral anomalies, also known as Mathieu-De Broca-Bony syndrome, is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate, facial dysmorphisms, short stature and neck, vertebral abnormalities and intellectual disabilities. It is thought to be inherited in an autosomal dominant fashion.
Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature.
Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is characterized by cranio-facial dysmorphisms, hearing loss, digital clubbing, and osseous anomalies. Only 2 cases have been described in medical literature.
Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.
CAPOS syndrome is a rare genetic neurological disorder which is characterized by abnormalities of the feet, eyes and brain which affect their normal function. These symptoms occur episodically when a fever-related infection is present within the body.
Splenogonadal fusion-limb defects-micrognathia syndrome, also known by its abbreviation, SGFLD syndrome, is a rare genetic disorder characterized by abnormal fusion of the spleen and the gonad alongside limb defects and orofacial anomalies. It is a type of syndromic dysostosis.
Histidinuria-renal tubular defect syndrome is a rare genetic disorder characterized by histidinuria associated with the intestines' and the renal tubule's impaired ability of absorbing histidine. Additional findings include intellectual disability, developmental delay, epilepsy, and mild congenital variations. Only five cases from four families have been described in medical literature.
Cochleosaccular degeneration with progressive cataracts, also known as autosomal dominant progressive sensorineural hearing loss and cataracts is a rare genetic disorder characterized by the adult-onset combination of cochleosaccular degeneration and progressive cataract which is transmitted as an autosomal dominant trait for generations in entire families, essentially resulting in familial deafblindness. Additional features include unstable gait. Only 15 cases from 2 mutli-generational families in the United States and Italy (respectively) have been described in medical literature.
Pyknoachondrogenesis is a very rare, fatal, presumably autosomal recessive genetic disorder characterized by symptoms similar to those shown by patients with achondrogenesis alongside severely osteoclerotic bones and early death. The findings that can be seen in patients with this condition include hydrops fetalis, palpebral edemas, low-set ears, abdomen prominence, short neck, large head, depressed nasal bridge, shortening and widening of the trunk, severe short-limbed dwarfism, craniofacial hyperostosis, agenesis of the pubic bones, hypoplasia of the pelvic bones and ischium, poor ossification of the vertebrae and sacrum, webbing of the neck, and shortening of a long bone and the ribs. Pregnancies of babies with this condition generally aren't compatible with life and they end up in miscarriage, stillbirth, or in neonatal death. Only 5 cases from Italy and the United States, respectively, have been described in medical literature.
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature.
Faciocardiorenal syndrome is a rare genetic disorder characterized by facial dysmorphisms, congenital heart defects, and the presence of a horseshoe kidney, alongside intellectual disabilities. Facial dysmorphisms include protruding ears, narrowing of the mouth, cleft palate, hypertelorism, etc. Only 4 cases from the United States, Northern Ireland, and Mexico have been described in the medical literature. Transmission is, presumably, autosomal recessive.
