Management and treatment Management is symptomatic and includes combined treatments for hearing impairment and for skin lesions. Prognosis Prognosis is function of the severity of associated manifestations. [orpha.net]

These consist of branchial anomalies, including supra-auricular sinuses, and aplastic cervical skin lesions, with possible ectopic dermal thymus, malformed auricles, stenotic external auditory canals, conductive hearing loss, ocular abnormalities (microphthalmia [ncbi.nlm.nih.gov]

These cutaneous manifestations can vary from Keloid-like and scar-like lesions to eroded, unepithelialized skin.[4],[5] In some cases, this skin defect manifests as hemangiomatous lesions.[6],[7] Very little data exist regarding the histopathological [go.gale.com]

In this case, the ophthalmic manifestations included lacrimal sac fistula, orbital dermoid cyst, iris pigment epithelial cyst, and combined hamartoma of the retina and retinal pigment epithelium. [experts.umich.edu]

On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, [ncbi.nlm.nih.gov]

One patient presented brainstem immaturity with dysregulation of sympathetic and parasympathetic systems, which have so far not been described in the literature and were associated with anxiety, panic attacks, and tiredness. [ncbi.nlm.nih.gov]

nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth. [orpha.net]

His obvious symptoms were holes in both sides of the neck (he had surgery at 6 months of age), broad nasal bridge, nasal duct obstruction, pseudocleft of the upper lip, submucos cleft palate, microphthalmia, and squint eye (more dropping in right eye) [jmums.mazums.ac.ir]

Craniofacial defects include pseudo-cleft/cleft lip, broad nasal bridge, and high forehead. Pseudo-cleft is a particularly helpful clinical feature that is highly specific to this syndrome. [molvis.org]

Other anomalies, in addition to the familiar cardinal features of BOFS, included facial nerve weakness (n 6), chin dimple or cleft of the lower lip (n 4), upper labial pits (n 6), minor digital anomalies (n 12), renal anomalies (n 14), and ectopic thymus [ncbi.nlm.nih.gov]

lips - Retinoschisis / retinal / chorioretinal coloboma - Skin hypoplasia / aplasia / atrophy Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Coloboma of iris - [csbg.cnb.csic.es]