Question: What are the symptoms of Anophthalmos with limb anomalies ?
Answer: What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. 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) Abnormality of the eyebrow 90% Abnormality of the metacarpal bones 90% Aplasia/Hypoplasia affecting the eye 90% Blepharophimosis 90% Finger syndactyly 90% Frontal bossing 90% Sandal gap 90% Synostosis of carpal bones 90% Toe syndactyly 90% Abnormal form of the vertebral bodies 50% Abnormality of bone mineral density 50% Abnormality of the fibula 50% Abnormality of the thumb 50% Abnormality of the tibia 50% Cleft upper lip 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Hand polydactyly 50% Optic atrophy 50% Single transverse palmar crease 50% Split hand 50% Tarsal synostosis 50% Abnormal localization of kidney 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Holoprosencephaly 7.5% Hydrocephalus 7.5% Malar flattening 7.5% Postaxial foot polydactyly 7.5% Talipes 7.5% Venous insufficiency 7.5% Abnormality of the cardiovascular system - Abnormality of the hair - Anophthalmia - Autosomal recessive inheritance - Camptodactyly of 2nd-5th fingers - Deep philtrum - Depressed nasal bridge - Fibular hypoplasia - Flared nostrils - Fused fourth and fifth metacarpals - High palate - Hip dislocation - Intellectual disability - Low-set ears - Microphthalmia - Oligodactyly (feet) - Oligodactyly (hands) - Postaxial hand polydactyly - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Retrognathia - Short nose - Short palpebral fissure - Talipes equinovarus - Tibial bowing - 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