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Doctor insights on: Amyoplasia Congenita Disruptive Sequence

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Are developmental, familial and congenital anomalies different?

Are developmental, familial and congenital anomalies different?

Not really: Developmental = failure to meet developmental milestones such as sitting up, walking etc. This may be aquired from e.g. Birth injury. Familial means that it is a trait within a family, presumably genetic. Congenital is "accidental" with no known cause. ...Read more

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Can people with arthrogryposis multiplex congenita survive long?

Depends: It depends on the severity of the problem (it varies widely). For example, some have severe scoliosis, limiting chest movement and lung inflation. Some have small lungs. These could reduce lifespan. On the other hand, many with amc have normal life expectancy. ...Read more

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What genetic syndromes associated with congenital hydronephrosis ?

What genetic syndromes associated with congenital hydronephrosis ?

Genetics : There are many causes of hydronephrosis. Often hydronephrosis is found on prenatal ultrasounds but is not seen on postnatal ultrasounds. Any kidney or bladder malformation can cause hydronephrosis. In infants, posterior urethral valves, kidney stones, cystic kidneys, abdminal masses or any stenosis of the urethra or ureters may cause hydronephrosis. ...Read more

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What chromosome is congenital melanocytic nevi syndrome?

What chromosome is congenital melanocytic nevi syndrome?

No specific link: The congenital melanocytic nevus syndrome is considered sporadic in its occurrence.A few available studies of biopsy material have found abnormalities on the 1st, 12th or 19 th chromosome but no consistent pattern is reported.See the recent article : www.Ncbi.Nlm.Nih.Gov/pmc/articles/pmc2994429. ...Read more

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4yo has severe laryngomalacia, sleep apnea, aspirates, history of hypotonia & gross motor delay, MTHFR, midline defects, SPD, possible autism. Causes?

4yo has severe laryngomalacia, sleep apnea, aspirates, history of hypotonia & gross motor delay, MTHFR, midline defects, SPD, possible autism. Causes?

Mgt, workup: The severe laryngomalacia can cause and contribute to sleep apnea and aspiration. I would suggest an evaluation by ENT and a sleep study to evaluate the need for CPAP. Speech and development can help with coordination/swallowing mechanisms. A virtual appointment: healthtap.com/DosanjhMD Code: NCYHPZ ...Read more

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Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more

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Is amyotrophic lateral sclerosis sex-linked or a chromosomal error?

Is amyotrophic lateral sclerosis sex-linked or a chromosomal error?

ALS: Amyotrophic lateral sclerosis or ALS (lou gehrig's disease) is a central nervous system disease that causes progressive loss of strength and coordination. There are no known risk factors which predispose someone to developing als. Most commonly, the cause is unknown but in about 10% of cases, there is a genetic defect which leads to the problem. ...Read more

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Are congenital disorders of glycosylation progressive disorders with worsening symptoms over time? Is there shortened life expectancy?

Are congenital disorders of glycosylation progressive disorders with worsening symptoms over time? Is there shortened life expectancy?

Yes and yes: This is a very complex topic. There are many different forms of the disease affecting many different genes. I would suggest the following as a nice overview about the disease: http://www.Ncbi.Nlm.Nih.Gov/books/nbk1332/. ...Read more

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Does being diagnosed with Myotonia through genetic testing of the Scn4a gene mean a person has Myotonic Muscular Dystrophy? Is Myotonia a Dystrophy?

Does being diagnosed with Myotonia through genetic testing of the Scn4a gene mean a person has Myotonic Muscular Dystrophy? Is Myotonia a Dystrophy?

Usually.: Myotonia, can have more than one cause. Myotonic dystrophy, is a genetics, and heritage form of Maya Tonio. If you have the gene, you most likely have it. Myotonia is due to an abnormality in the membranes of muscle cells, making them hyperexcitable. ...Read more

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What chromosomes cause the genetic disorder achondroplasia?

What chromosomes cause the genetic disorder achondroplasia?

FGFR3 gene: Achondroplasia is a mutation in the fibroblast growth factor receptor 3, which is an inhibitor that regulates bone growth. In cases of achondroplasia, the fgfr3 gene is too aggressive, negatively impacting bone growth. ...Read more

Dr. Jay Park Dr. Park
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How come duchenne muscular dystrophy considered a genetic disorder?

Dr. Jay Park Dr. Park
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How come duchenne muscular dystrophy considered a genetic disorder?

Mutated gene in X : Duchenne muscular dystrophy is caused by an abnormal gene in x chromosome, and is inherited as an x-linked recessive trait. ...Read more

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On which chromosome is the genetic disorder myofibrillar myopathy?

On which chromosome is the genetic disorder myofibrillar myopathy?

80% not identified: Here is a good link to get more information about this condition. http://www.ncbi.nlm.nih.gov/books/nbk1499/ they have identified a number of genes that contribute to that condition. If the gene causing mutation has been established then genetic counseling may help with prenatal testing. We have established some of the genes involved but only 20% of cases have a genetic basis identified. ...Read more

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How come atrioventricular septal defect so common in children with down's syndrome?

How come atrioventricular septal defect so common in children with down's syndrome?

Unknown: The heart is a very complex organ. We still do not fully understand how the normal heart develops in the fetus. We understand even less about what causes the heart to develop abnormally. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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Is Down's syndome a congenital disorder?

Is Down's syndome a congenital disorder?

Down's Syndrome: Is a congenital disorder where an affected person has extra genetic material at Chromosome 21. It is the most common genetic condition in the United States. ...Read more

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Autistic spectrum disorder the same as replace pervasive developmental disorder?

Autistic spectrum disorder the same as replace pervasive developmental disorder?

PDD: Pervasive developmental disorder is a label/diagnosis given to those with some but not all of the criteria for autistic spectrum disorder. It reflects a less severe disorder. It is used for significant impairment in development of reciprocal social interaction or communication skills or when stereotyped behaviors, interests & activities are present. ...Read more

Dr. Jay Park Dr. Park
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Is williams syndrome a gene or chromosomal mutation ?

Dr. Jay Park Dr. Park
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Is williams syndrome a gene or chromosomal mutation ?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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