| Katz syndrome | |
|---|---|
| Other names | Hyperostosis frontalis interna |
 | |
| Hyperostosis frontalis interna in a 74-year-old woman | |
| Specialty | Medical genetics |
Katz syndrome is a rare congenital disorder, presenting as a polymalformative syndrome characterized by enlarged viscera, hepatomegaly, diabetes, and skeletal anomalies that result in a short stature, cranial hyperostosis, and typical facial features. It is probably a variant of the autosomal recessive type of Craniometaphyseal Dysplasia. [1]
Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.[ citation needed ]
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Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they develop menstrual periods and breasts only with hormone treatment, and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence; however, many have troubles with spatial visualization that may be needed for mathematics. Vision and hearing problems occur more often.
Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly. People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs are also found in the fluids that lubricate joints.
Hepatomegaly is the condition of having an enlarged liver. It is a non-specific medical sign having many causes, which can broadly be broken down into infection, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice.
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis. This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly). Individuals with more severe cases of SCS may have mild to moderate intellectual or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.
Laron syndrome (LS), also known as growth hormone insensitivity is an autosomal recessive disorder characterized by a lack of insulin-like growth factor 1 production in response to growth hormone. It is usually caused by inherited growth hormone receptor (GHR) mutations.
Fanconi–Bickel syndrome is a form of glycogen storage disease. It is also known for Guido Fanconi and Horst Bickel, who first described it in 1949.
Rud syndrome is a poorly characterized disorder, probably of X-linked recessive inheritance, named after Einar Rud who described 2 patients with the case in 1927 and 1929. It was argued that all reported cases of Rud syndrome are genetically heterogeneous and significantly differ from the original case reports of Rud and that the designation Rud syndrome should be eliminated and that the patients with such diagnosis should be reassigned to other syndromes, such as Refsum disease and Sjögren-Larsson syndrome. Some consider Rud syndrome and Sjögren-Larsson syndrome the same entity and that Rud syndrome doesn't exist.
Large vestibular aqueduct, is a structural deformity of the inner ear. Enlargement of this duct is one of the most common inner ear deformities and is commonly associated with hearing loss during childhood. The term was first discovered in 1791 by Mondini when he was completing a temporal bone dissection. It was then defined by Valvassori and Clemis as a vestibular aqueduct that is greater than or equal to 2.0 mm at the operculum and/or greater than or equal to 1.0 mm at the midpoint. Some use the term enlarged vestibular aqueduct syndrome but this is felt by others to be erroneous as it is a clinical finding which can occur in several syndromes.
Mauriac syndrome is a rare complication of type 1 diabetes characterized by extreme liver enlargement due to glycogen deposition, along with growth failure and delayed puberty. It occurs in some children and adolescents with type 1 diabetes irrespective of their glycemic control.
Morgagni-Stewart-Morel syndrome is a condition with a wide range of associated endocrine problems including: diabetes mellitus, diabetes insipidus, and hyperparathyroidism. Other signs and symptoms include headaches, vertigo, hirsutism, menstrual disorder, galactorrhoea, obesity, depression, and seizures. Thickening of the inner table of the frontal part of the skull a usually benign condition known as hyperostosis frontalis interna. The syndrome was first described in 1765. It is named after the Italian anatomist and pathologist Giovanni Battista Morgagni, the British neurologist Roy Mackenzie Stewart, and the Swiss psychiatrist Ferdinand Morel.
Stratton parker syndrome is a rare disorder characterized by short stature, wormian bones, and dextrocardia. Other symptoms include dermatoglyphics, tooth deformities or missing teeth, abnormal kidney development, shortened limbs, mental retardation, undescended testes or cryptorchidism, and anal atresia. The condition was first described by Stratton and Parker in 1989, and there have been only four reported cases worldwide.
Craniometaphyseal dysplasia is a rare skeletal disorder that results from a mutation in the ANKH or GJA1 genes. The condition is characterized abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs.
Thiamine responsive megaloblastic anemia syndrome is a very rare autosomal recessive genetic disorder affecting a thiamine transporter, which is characterized by megaloblastic anemia, diabetes mellitus, and hearing loss. The condition is treated with high doses of thiamine.