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What is Thumb deformity, alopecia, pigmentation anomaly?

What is Thumb deformity, alopecia, pigmentation anomaly?

  • Thumb deformity, alopecia, pigmentation anomaly: A very rare syndrome characterized mainly by a deformed thumb, lack of hair and abnormal pigmentation.

Thumb deformity, alopecia, pigmentation anomaly is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Thumb deformity, alopecia, pigmentation anomaly, or a subtype of Thumb deformity, alopecia, pigmentation anomaly, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Thumb deformity, alopecia, pigmentation anomaly as a "rare disease".
Source - Orphanet

Thumb deformity, alopecia, pigmentation anomaly: Introduction

Types of Thumb deformity, alopecia, pigmentation anomaly:

Broader types of Thumb deformity, alopecia, pigmentation anomaly:

What causes Thumb deformity, alopecia, pigmentation anomaly?

Causes of Thumb deformity, alopecia, pigmentation anomaly: see causes of Thumb deformity, alopecia, pigmentation anomaly

What are the symptoms of Thumb deformity, alopecia, pigmentation anomaly?

Symptoms of Thumb deformity, alopecia, pigmentation anomaly: see symptoms of Thumb deformity, alopecia, pigmentation anomaly

Thumb deformity, alopecia, pigmentation anomaly: Testing

Misdiagnosis: see misdiagnosis and Thumb deformity, alopecia, pigmentation anomaly.

How is it treated?

Doctors and Medical Specialists for Thumb deformity, alopecia, pigmentation anomaly: Pediatrician ; see also doctors and medical specialists for Thumb deformity, alopecia, pigmentation anomaly.
Treatments for Thumb deformity, alopecia, pigmentation anomaly: see treatments for Thumb deformity, alopecia, pigmentation anomaly

Name and Aliases of Thumb deformity, alopecia, pigmentation anomaly

Main name of condition: Thumb deformity, alopecia, pigmentation anomaly

Other names or spellings for Thumb deformity, alopecia, pigmentation anomaly:

Congenital deformity of the thumb and congenital alopecia, Hypotrichosis associated with congenital hypoplasia of the thumb, Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation

Congenital deformity of the thumb and congenital alopecia, Hypotrichosis associated with congenital hypoplasia of the thumb, Sparse hair, short stature, hypoplastic thumbs, single upper central incisor and abnormal skin pigmentation
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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