Guidelines

What is hypoglossia Hypodactylia syndrome?

What is hypoglossia Hypodactylia syndrome?

Hanhart syndrome is a rare condition characterized by a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia); and an extremely small jaw (micrognathia).

How rare is Hallermann Streiff syndrome?

Hallermann-Streiff syndrome is a very rare condition and approximately 200 cases have been reported in the literature worldwide.

What is hypoglossia?

Hypoglossia is a short, incompletely developed tongue. It can occur either as an isolated malformation or in association with other deformities, particularly limb defects in a syndrome known as oromandibular limb hypogenesis syndrome.

What is Charlie disease?

Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms).

What is Beckwith Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder. BWS is caused by changes on chromosome 11p15. 5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person.

What is the rarest disease in the world?

RPI deficiency According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history.

What is Beckwith-Wiedemann syndrome?

Is Beckwith-Wiedemann syndrome a disability?

If you or your dependent(s) are diagnosed with Beckwith-Wiedemann Syndrome Due To 11P15 Microdeletion and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.

Is Beckwith-Wiedemann syndrome serious?

Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.

Is Pierre Robin syndrome a disability?

Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl.