Topic: Microphthalmia syndromic 6
Question: What are the symptoms of Microphthalmia syndromic 6 ?
Answer: What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 6. 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 affecting the eye 90% Microphthalmia 90% Cataract 50% Chorioretinal coloboma 50% Cognitive impairment 50% Iris coloboma 50% Microcornea 50% Abnormality of the fingernails 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the palate 7.5% Abnormality of the palpebral fissures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Postaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Sclerocornea 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Myopia 3/3 Anophthalmia 9/10 Blindness 8/11 Coloboma 3/5 High palate 3/6 Microcephaly 3/6 Sclerocornea 2/5 Absent speech 2/6 Anterior hypopituitarism 2/6 Aplasia/Hypoplasia of the corpus callosum 3/9 Cryptorchidism 2/6 Failure to thrive 2/6 Hearing impairment 2/6 Microcornea 1/3 Muscular hypotonia 2/6 Nystagmus 1/3 Orbital cyst 1/3 Retinal dystrophy 1/3 Retrognathia 2/6 Ventriculomegaly 3/9 Cerebral cortical atrophy 2/9 Hypothyroidism 2/9 Inferior vermis hypoplasia 2/9 Female hypogonadism 1/5 Preaxial hand polydactyly 2/11 Adrenal hypoplasia 1/6 Bifid scrotum 1/6 Brachycephaly 1/6 Cleft palate 1/6 Hypospadias 1/6 Microglossia 1/6 Micropenis 1/6 Renal hypoplasia 1/6 Small sella turcica 1/6 Cerebellar hypoplasia 1/9 Plagiocephaly 1/9 Abnormality of the cervical spine 1/10 Facial asymmetry 1/10 Lambdoidal craniosynostosis 1/10 Clinodactyly of the 5th finger 1/11 Finger syndactyly 1/11 Flexion contracture of thumb 1/11 Low-set ears 1/11 Posteriorly rotated ears 1/11 Protruding ear 1/11 Short middle phalanx of finger 1/11 Autosomal dominant inheritance - Bifid uvula - Brachydactyly syndrome - Delayed CNS myelination - High forehead - Hypoplasia of midface - Macrotia - Malar flattening - Severe muscular hypotonia - Single transverse palmar crease - Small scrotum - Toe syndactyly - Uplifted earlobe - 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)