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Fraser-like syndrome

MedGen UID:
346426
Concept ID:
C1856708
Disease or Syndrome
Synonym: FUSED EYELIDS, AIRWAY ANOMALIES, OVARIAN CYSTS, AND DIGITAL ANOMALIES
 
Monarch Initiative: MONDO:0009243
OMIM®: 229230
Orphanet: ORPHA2051

Clinical features

From HPO
Ovarian cyst
MedGen UID:
14540
Concept ID:
C0029927
Disease or Syndrome
The presence of one or more cysts of the ovary.
Overlapping toe
MedGen UID:
182531
Concept ID:
C0920299
Anatomical Abnormality
Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent.
Contracture of the proximal interphalangeal joint of the 2nd finger
MedGen UID:
867093
Concept ID:
C4021451
Anatomical Abnormality
Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue.
Subglottic stenosis
MedGen UID:
68668
Concept ID:
C0238441
Anatomical Abnormality

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