Paula and Bobby
Parents of Lillie
What is Bangstad syndrome?
Bangstad syndrome is a rare disease. It is also known as Bird-headed Dwarfism With Progressive Ataxia, Insulin-resistant Diabetes, Goiter, And Primary Gonadal Insufficiency.
A 26-year-old man and his 16-year-old sister were described by Bangstad et al., (1989) with a form of microcephalic primordial dwarfism. They were microcephalic and were very short (height < -7 SD). There was, in association, progressive ataxia, goiter, insulin resistant diabetes mellitus and primary gonadal insufficiency. The eyes were said to be small and deep-set, the nose prominent and curved and the forehead receding. Unfortunately, photographs of the cases were not published.
Salerno et al., (2003) reported a very similar case with craniosynostosis, acanthosis nigricans, deafness, mental retardation and endocrine abnormalities including hypothyroidism, hypogonadism, transitory hypoparathyroidism, and insulin resistance. Adenylyl cyclase activity was evaluated by assaying c-AMP in the patient's cultured fibroblasts and suggested a reduced cAMP accumulation in the patient. The authors also noted similarity to the patients described under Scott (1969) (qv).
* This information is courtesy of the L M D.
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What gene changes cause Bangstad syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 210740 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Bangstad syndrome?
The typical symptoms of the syndrome are:
Pancytopenia, Retrognathia, Autosomal recessive inheritance, Seizure, Polycystic ovaries, Primary gonadal insufficiency, Microcephaly, Type I diabetes mellitus, Convex nasal ridge, Progressive cerebellar ataxia, Cerebral hypoplasia, Brain very small, Abnormal testis morphology, Abnormality of the dentition, Abnormality of the parathyroid gland, Hypothyroidism, Incoordination, Hypercortisolism, Hyperinsulinemia, Cognitive impairment, Goiter, Short stature, Small for gestational age, Severe short stature, Deeply set eye, EEG abnormality, Deviation of finger, Micrognathia, Abnormally large globe, Narrow face, Sloping forehead, Intrauterine growth retardation, Intellectual disability, Insulin-resistant diabetes mellitus
How does someone get tested for Bangstad syndrome?
The initial testing for Bangstad syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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