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Red skin pigment anomaly of new guinea

MedGen UID:
341457
•Concept ID:
C1849451
•
Disease or Syndrome
Synonym: Red skin pigment, New Guinea type
 
Monarch Initiative: MONDO:0009956
OMIM®: 266350

Clinical features

From HPO
Photophobia
MedGen UID:
43220
•Concept ID:
C0085636
•
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
See: Feature record | Search on this feature
Abnormal hair morphology
MedGen UID:
56381
•Concept ID:
C0157733
•
Finding
An abnormality of the hair.
See: Feature record | Search on this feature
Nystagmus
MedGen UID:
45166
•Concept ID:
C0028738
•
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Red or rufous albinism in southern Africa.
Kromberg JG, Castle DJ, Zwane EM, Bothwell J, Kidson S, Bartel P, Phillips JI, Jenkins T
Ophthalmic Paediatr Genet 1990 Sep;11(3):229-35. doi: 10.3109/13816819009020984. PMID: 2126368

Clinical prediction guides

Red or rufous albinism in southern Africa.
Kromberg JG, Castle DJ, Zwane EM, Bothwell J, Kidson S, Bartel P, Phillips JI, Jenkins T
Ophthalmic Paediatr Genet 1990 Sep;11(3):229-35. doi: 10.3109/13816819009020984. PMID: 2126368

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