Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.
Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. It was first characterized by Abruzzo and Erickson in 1977 as a CHARGE like syndrome as variably expressed among a family of two brothers, their mother, and their maternal uncle. Members of this family exhibited many of the CHARGE symptoms, but notably did not have choanal atresia and the brothers experienced typical genital development. Due to the recent discovery of this disorder, its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The disorder is inherited in an X-linked recessive manner. There is currently no known cure but its symptoms can be treated.
Alström syndrome (AS), also called Alström–Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome.
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head, small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation.
Björnstad syndrome is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. It was first characterized in 1965, in Oslo, by prof. Roar Theodor Bjørnstad after he observed an association between pili torti and hearing loss. The condition is extremely rare, with less than 50 cases documented in medical literature worldwide.
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.
Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following characteristics: underdevelopment of the cheek and jaw area, down-sloping of the opening of the eyes, lack or absence of the lower eyelashes, kidney or stomach reflux, hammer toes, shortened soft palate, lack of development of the internal and external ear, possible cleft palate, underdevelopment or absence of the thumb, hearing loss and shortened forearms, as well as poor movement in the elbow, and may be characterized by accessory tragi. Occasionally, affected individuals develop vertebral anomalies such as scoliosis.
Spider lamb syndrome, also known as spider syndrome and more formally as ovine hereditary chondrodysplasia, is a homozygous recessive disorder affecting the growth of cartilage and bone in sheep. The name derives from the limbs of afflicted animals being thin, elongated, and "spider-like".
Xia-Gibbs Syndrome, is genetic disorder caused by a heterozygous mutation in the AHDC1 gene on chromosome 1p36.
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected by the disorder are severely short in height and commonly possess shorter arms and legs. In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones. Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs. Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain. Those affected may also suffer with apnea, the slowing or loss of breath for short periods of time.
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is a very rare genetic and congenital disorder which is characterized by blepharophimosis, ptosis, V-esotropia, foot syndactyly, extra-ocular and frontal muscles weakness, low height/short stature, prognathism, and synophrys.
Stocco dos Santos syndrome is an extremely rare multi-systemic genetic disorder which is present from birth. It is characterized by heart, skeletal, muscular abnormalities with accompanying intellectual disabilities.
IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic disorder that is characterized by upper limb and ocular abnormalities and congenital hearing loss on both ears.
Absence of fingerprints-congenital milia syndrome, also known simply as Baird syndrome is an extremely rare autosomal dominant genetic disorder which is characterized by a lack of fingerprints and the appearance of blisters and facial milia soon after birth. It has been described in ten families worldwide.
Camera–Marugo–Cohen syndrome, also known as Obesity, mental retardation, body asymmetry and muscle weakness syndrome is a very rare genetic disorder which is characterized by familial obesity, intellectual disabilities, body asymmetry, and muscular weakness. It is a type of syndromic obesity/obesity syndrome. 2 cases have been reported in medical literature
Spondylocamptodactyly, also known as Spondylocamptodactyly syndrome, is a very rare multi-systemic genetic disorder which is characterized by the presence of camptodactyly, flattened vertebrae and thoracic scoliosis of varying degrees. It has been described in 5 members of a 3-generation Mexican family, It is thought to be inherited in an either autosomal dominant or autosomal recessive with pseudodominance pattern.
Cardiospondylocarpofacial syndrome is a very rare genetic disorder which is characterized by cardiac, digital, osseous anomalies with facial dysmorphisms. Cardiospondylocarpofacial syndrome is believed to be caused by autosomal dominant mutations of the MAP3K7 gene.
Proud syndrome is a very rare genetic disorder which is characterized by severe intellectual disabilities, corpus callosum agenesis, epilepsy, and spasticity. It is a type of syndromic X-linked intellectual disability.
Osteoporosis-pseudoglioma syndrome or OPGG is a rare genetic condition which is characterized by early-onset blindness and severe osteoporosis alongside seemingly random bone fractures.
