SADDAN

SADDAN

SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities.

All people with this condition are extremely short with particularly short arms and legs. Other signs and symptoms include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain lead to seizures, profound developmental delay, and mental retardation. Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, develops in infancy or early childhood. People with SADDAN often live into childhood and adulthood.

Many of the features of SADDAN are similar to those seen in other skeletal disorders, specifically achondroplasia and thanatophoric dysplasia.

Epidemiology

This disorder is very rare; it has been described in only a small number of individuals worldwide.

Genetics

Mutations in the "FGFR3" gene cause SADDAN. The protein made by the "FGFR3" gene is a receptor that plays a role in the development and maintenance of bone and brain tissue. A mutation in the gene may overactivate the receptor, which leads to disturbances in bone growth. Researchers have not determined how the mutation disrupts brain development or causes acanthosis nigricans.

SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. The few described cases of SADDAN have been caused by new mutations in the FGFR3 gene. No individuals with this disorder are known to have had children; therefore, the disorder has not been passed to the next generation.

References

*
*
*

External links

*


Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать курсовую

Look at other dictionaries:

  • SADDAN — est une maladie constitutionnelle de l os du groupe des achondroplasies se manifestant par un nanisme évident dès la naissance. SADDAN est un acronyme pour désigner l association : Achondroplasie sévère (severe achondroplasia) Retard de… …   Wikipédia en Français

  • SADDAN — severe achondroplasia with developmental delay and acanthosis nigricans …   Medical dictionary

  • SADDAN — • severe achondroplasia with developmental delay and acanthosis nigricans …   Dictionary of medical acronyms & abbreviations

  • displasia de SADDAN — desorden extremadamente raro ligado a alteraciones del gen que codifica el receptor al factor de crecimiento 3, caracterizado por una estatura extremadamente corta y acantosis nigricans Diccionario ilustrado de Términos Médicos.. Alvaro Galiano.… …   Diccionario médico

  • Tombeau des Rois — 31° 47′ 18″ N 35° 13′ 46″ E / 31.78821, 35.22946 Le Tombeau des Rois …   Wikipédia en Français

  • Guerra de Iraq — Saltar a navegación, búsqueda «Guerra de Iraq» redirige aquí. Para otras acepciones, véase Guerra de Iraq (desambiguación). Guerra de Iraq Comenzando en la parte superior izquierda: una patrulla conjunta en Samarra; el derrocamiento de la esta …   Wikipedia Español

  • 4-я хромосома человека — Идиограмма 4 й хромосомы человека 4 я хромосома человека  одна из 23 человеческих хромосом. Хромосома содержит более 191 млн пар оснований[1], ч …   Википедия

  • Guerra de Irak — Para otros usos de este término, véase Guerra de Irak (desambiguación). Guerra de Irak (2003 2010) Parte de la Guerra contra el terrorismo Comenzando en la parte superior izquierda: una patrulla conjunta en Samarr …   Wikipedia Español

  • Hélène d'Adiabène — Hélène était la reine de l Adiabène (un royaume correspondant à peu près aux frontières des territoires Kurdes aujourd hui). C était vraisemblablement la première épouse de Monobaze Ier. Elle est probablement née entre 25 et 15 av. J. C.[N 1].… …   Wikipédia en Français

  • Iraq Resolution — and Iraq War Resolution are popular names for the Authorization for Use of Military Force Against Iraq Resolution of 2002, [http://www.c span.org/resources/pdf/hjres114.pdf Authorization for Use of Military Force Against Iraq Resolution of 2002]… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”