Wiedemann-Rautenstrauch syndrome
Última actualización 12 Nov 2024
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Wiedemann-Rautenstrauch syndrome is a type of progeria. People with progeria have certain features that make them look older than they are. The signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth as affected individuals do not grow and gain weight at the expected rate (intrauterine growth restriction).
Descripción
Wiedemann-Rautenstrauch syndrome is a type of progeria. People with progeria have certain features that make them look older than they are. The signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth as affected individuals do not grow and gain weight at the expected rate (intrauterine growth restriction).
People with Wiedemann-Rautenstrauch syndrome have distinctive facial features that give the appearance of old age. They often have a triangular face with a prominent forehead and pointed chin, a small mouth with a thin upper lip, a small jaw, low-set ears, and abnormal lower eyelids. In most affected individuals, the middle of the face looks as though it is drawn inward (midface retraction). On the head, hair is sparse, and the veins are prominent.
In people with Wiedemann-Rautenstrauch syndrome, the spaces (fontanelles) between the skull bones (that are noticeable as "soft spots" on the heads of infants) are larger than normal. The fontanelles normally close in early childhood, but they may remain open in people with this condition. Individuals with Wiedemann-Rautenstrauch syndrome may appear to have an abnormally large head, but their head size is typically normal for their age (pseudohydrocephalus).
Some individuals with Wiedemann-Rautenstrauch syndrome have intellectual disabilities. Affected children may also have developmental disabilities.
Many affected infants are born with teeth (natal teeth); these teeth fall out a few weeks after birth. Some or all of their permanent (adult) teeth may never develop (hypodontia).
A lack of fatty tissue under the skin (lipodystrophy), particularly in the face, arms, and legs, can make people with Wiedemann-Rautenstrauch syndrome look older than they are. In addition, the skin is thin and translucent.
Some individuals with Wiedemann-Rautenstrauch syndrome develop joint abnormalities called contractures that can limit movement. Additionally, movement problems such as difficulty with coordination and balance (ataxia) or involuntary rhythmic shaking (tremor), can appear during childhood and worsen over time. Some people with Wiedemann-Rautenstrauch syndrome have vision or hearing problems.
While many people with Wiedemann-Rautenstrauch syndrome do not survive past infancy or early childhood, others live into their teens or twenties.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Congenital pseudohydrocephalic progeroid syndrome
Neonatal progeroid syndrome
Neonatal pseudo-hydrocephalic progeroid syndrome
Neonatal pseudohydrocephalic progeroid syndrome
WRS
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Lecturas adicionales y referencias
- Wiedemann-Rautenstrauch syndrome; MedlinePlus, National Library of Medicine.
- Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9.
- Khan A, Al Shamsi B, Al Shehhi M, Kashgari AA, Al Balushi A, Al Dihan FA, Alghamdi MA, Manal A, Gonzalez-Alvarez AC, Arold ST, Eyaid W. Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A. Mol Genet Genomic Med. 2024 Mar;12(3):e2274. doi: 10.1002/mgg3.2274. Epub 2024 Feb 13.
- Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szollos A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nurnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Hum Genet. 2018 Dec;137(11-12):921-939. doi: 10.1007/s00439-018-1957-1. Epub 2018 Nov 19.
- Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC. Wiedemann-Rautenstrauch syndrome: A phenotype analysis. Am J Med Genet A. 2017 Jul;173(7):1763-1772. doi: 10.1002/ajmg.a.38246. Epub 2017 Apr 26.
- Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmuller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Muller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.
- Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet. 2018 Dec 6;103(6):968-975. doi: 10.1016/j.ajhg.2018.10.010. Epub 2018 Nov 7.
- Zea Vera A, Bruce A, Larsh TR, Jordan Z, Bruggemann N, Westenberger A, Espay AJ, Gilbert DL, Wu SW. Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders. Mov Disord Clin Pract. 2022 Dec 23;10(2):316-322. doi: 10.1002/mdc3.13635. eCollection 2023 Feb.
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