Topic: Branchiooculofacial syndrome
Question: What are the symptoms of Branchiooculofacial syndrome ?
Answer: What are the signs and symptoms of Branchiooculofacial syndrome? The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest; lumps in the area of the neck or collarbone (branchial cleft sinuses); and linear skin lesions behind the ears. Eye abnormalities can include microphthalmia, coloboma, and strabismus. The distinctive facial features can include widely spaced eyes; the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip; a malformed nose with a broad bridge and flattened tip; blockage of the tear ducts (lacrimal duct obstruction); and malformed ears. Often, affected individuals may have burn-like lesions behind the ears. Other features can include delayed growth, thymic and kidney abnormalities, dental abnormalities, and hearing loss. Intellect is usually normal.  The Human Phenotype Ontology provides the following list of signs and symptoms for Branchiooculofacial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the skin 90% Chorioretinal coloboma 90% Conductive hearing impairment 90% Deep philtrum 90% External ear malformation 90% Low-set, posteriorly rotated ears 90% Sacrococcygeal pilonidal abnormality 90% Abnormality of the fingernails 50% Abnormality of the nose 50% Abnormality of the palate 50% Abnormality of the voice 50% Dolichocephaly 50% Intrauterine growth retardation 50% Iris coloboma 50% Lacrimation abnormality 50% Microdontia 50% Neurological speech impairment 50% Non-midline cleft lip 50% Postnatal growth retardation 50% Premature graying of hair 50% Reduced number of teeth 50% Short stature 50% Upslanted palpebral fissure 50% Cataract 7.5% Lip pit 7.5% Microcornea 7.5% Multicystic kidney dysplasia 7.5% Preaxial hand polydactyly 7.5% Ptosis 7.5% Renal hypoplasia/aplasia 7.5% Strabismus 7.5% Abnormality of the teeth - Agenesis of cerebellar vermis - Anophthalmia - Aplasia cutis congenita - Atypical scarring of skin - Autosomal dominant inheritance - Branchial anomaly - Broad nasal tip - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Cryptorchidism - Depressed nasal bridge - Dermal atrophy - Duplication of internal organs - Ectopic thymus tissue - Elbow flexion contracture - Fusion of middle ear ossicles - Gastroesophageal reflux - Hamartoma - Hyperlordosis - Hypertelorism - Hypoplastic fingernail - Hypoplastic superior helix - Hypospadias - Intellectual disability, mild - Kyphosis - Low posterior hairline - Lower lip pit - Low-set ears - Malar flattening - Malrotation of colon - Microcephaly - Microphthalmia - Microtia - Myopia - Nasal speech - Nasolacrimal duct obstruction - Nystagmus - Overfolded helix - Postauricular pit - Preauricular pit - Proximal placement of thumb - Pyloric stenosis - Renal agenesis - Renal cyst - Retinal coloboma - Seizures - Sensorineural hearing impairment - Short nasal septum - Short neck - Short thumb - Single transverse palmar crease - Small forehead - Supernumerary nipple - Supraauricular pit - Telecanthus - White forelock - Wide intermamillary distance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
(Source: GARD)