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Items: 3

1.

Linear nevus sebaceous syndrome

Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001). [from OMIM]

MedGen UID:
1646345
Concept ID:
C4552097
Disease or Syndrome
2.

Extensor tendons of finger anomalies

Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. [from ORDO]

MedGen UID:
348302
Concept ID:
C1861237
Congenital Abnormality
3.

Abnormal finger morphology

An anomaly of a finger. [from HPO]

MedGen UID:
436247
Concept ID:
C2674737
Anatomical Abnormality; Finding
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