What is Langer-giedion?

Langer-Giedion syndrome is a very uncommon autosomal dominant genetic disorder caused by the deletion of chromosomal material. It is characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features.

How is Langer-giedion syndrome diagnosed?

The genetic testing can confirm the diagnosis by detecting the mutations of the genes that are responsible for causing this condition. There is no cure for Langer-Giedion Syndrome and the treatment helps with the management of the symptoms which can affect the quality of the individual’s life.

What is Trichorhinophalangeal?

Introduction. Trichorhinophalangeal syndrome (TRPS) is a rare disorder characterized by distinctive craniofacial and skeletal abnormalities, first described in 1966 by Giedion, who named the syndrome on the basis of the three main features: sparse hair, bulbous nasal tip and short deformed fingers [1].

What is Gideon syndrome?

General Discussion. Schinzel Giedion syndrome (SGS) is a very rare genetic disorder with characteristic facial features, skeletal abnormalities, and obstruction of the tube that carries urine from the kidney to the bladder (ureter). This obstruction may lead to enlarged and damaged kidneys (hydronephrosis).

What causes Miller dieker syndrome?

Causes. Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. The signs and symptoms of Miller-Dieker syndrome are probably related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals.

What is Rainbow syndrome?

Robinow syndrome is an extremely rare genetic disorder characterized by short-limbed dwarfism, abnormalities in the head, face, and external genitalia, as well as vertebral segmentation. The disorder was first described in 1969 by human geneticist Meinhard Robinow, along with physicians Frederic N.

What causes Trichorhinophalangeal syndrome?

TRPS I is caused by mutations in the TRPS1 gene. This gene provides instructions for making a protein that is found within the cell nucleus where it interacts with specific regions of DNA to turn off (repress) the activity of certain genes.

How common is Trichothiodystrophy?

Trichothiodystrophy has an estimated incidence of about 1 in 1 million newborns in the United States and Europe. About 100 affected individuals have been reported worldwide.

Is Patau syndrome inherited?

Patau’s syndrome happens by chance and is not caused by anything the parents have done. Most cases of the syndrome do not run in families (they’re not inherited). They occur randomly during conception, when the sperm and egg combine and the foetus starts to develop.

Can Covid trigger Guillain-Barré syndrome?

In two-thirds of cases, Guillain-Barre syndrome (GBS) is an autoimmune inflammatory disease affecting the nerve roots and peripheral nerves, preceded by a recent infection [2]. There have been many reported cases of GBS following COVID-19 infection, showing a possible association between the two entities.

What is trichorhinophalangeal syndrome?

Trichorhinophalangeal syndrome:evolution of Perthes-like changes in the hips. Orthopedics. 2000;23(8):855–6. PMid:10952053.

What is trichorhinophalangeal syndrome type 3 (trps3)?

Trichorhinophalangeal syndrome type 3 (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. [1]

What are the complications of trigeminal neuralgia syndrome (TRPS1)?

Some individuals with TRPS1 may develop hip problems similar to those of people with Legg-Calve-Perthes disease. These include progressive degeneration of the end portion (head) of the thigh bone (capital femoral epiphyseal osteonecrosis). (For more information on Legg-Calve-Perthes disease, see the Related Disorders section of this report.)

What are the Diagnostic and treatment options for trichomoniasis (TRPs)?

The diagnosis of TRPS is established in a proband with one of the following: Management. Treatment of manifestations: Management is principally supportive. Ectodermal issues: advice about hair care and use of wigs; extraction of supernumerary teeth can be considered.