Total 37 clinical symptoms reported for Branchiooculofacial syndrome
| Abnormal pinna morphology |
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Synonyms:Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae |
Very frequent |
| Atypical scarring of skin |
Atypically scarred skin .
Synonyms:Atypical scarring; Atypical scarring of skin |
Very frequent |
| Coloboma |
A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Synonyms:Notched pupil; Ocular coloboma; Ocular colobomas |
Very frequent |
| Conductive hearing impairment |
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Synonyms:Conduction deafness; Conductive deafness; Conductive hearing loss; Hearing loss, conductive |
Very frequent |
| Deep philtrum |
Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border.
Synonyms:Increased depth of philtrum; Philtrum, deep; Prominent philtrum; Pronounced philtrum |
Very frequent |
| Everted lower lip vermilion |
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Synonyms:Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip |
Very frequent |
| Hemangioma |
A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).
Synonyms:Strawberry mark |
Very frequent |
| Postauricular pit |
Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit.
Synonyms:Pit behind the ear; Postauricular earpits; Postauricular fistula; Posterior auricular pit; Posterior auricular sinus |
Very frequent |
| Posteriorly rotated ears |
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Synonyms:Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears |
Very frequent |
| Preauricular pit |
Small indentation anterior to the insertion of the ear.
Synonyms:Ear pit; Pit in front of the ear; Preauricular earpits; Preauricular fistulas; Preauricular pits; Preauricular sinus |
Very frequent |
| Supraauricular pit |
Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit.
Synonyms:Pit above the ear; Supraauricular fistula; Supraauricular sinus; Supraauricular sinuses |
Very frequent |