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1.

Branchiooculofacial syndrome

The branchiooculofacial syndrome (BOFS) is characterized by: branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to erythematous "hemangiomatous" lesions to large weeping erosions; ocular anomalies that can include microphthalmia, anophthalmia, coloboma, and nasolacrimal duct stenosis/atresia; and facial anomalies that can include ocular hypertelorism or telecanthus, broad nasal tip, upslanted palpebral fissures, cleft lip or prominent philtral pillars that give the appearance of a repaired cleft lip (formerly called "pseudocleft lip") with or without cleft palate, upper lip pits, and lower facial weakness (asymmetric crying face or partial 7th cranial nerve weakness). Malformed and prominent pinnae and hearing loss from inner ear and/or petrous bone anomalies are common. Intellect is usually normal. [from GeneReviews]

MedGen UID:
91261
Concept ID:
C0376524
Disease or Syndrome
2.

Supraauricular pit

Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. [from HPO]

MedGen UID:
396280
Concept ID:
C1862059
Congenital Abnormality; Finding

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