Topic: Peters plus syndrome
Question: What are the symptoms of Peters plus syndrome ?
Answer: What are the signs and symptoms of Peters plus syndrome? No formal diagnostic criteria have not been established for Peters plus syndrome. A clinical diagnosis is based on the presence of features. The following findings may be seen in individuals with Peters plus syndrome : Eye involvement: anomalies of the anterior chamber of the eye (e.g. Peters' anomaly); glaucoma; cataract Short stature Developmental delay Characteristic facial features (e.g. cleft lip and plate) Other associated findings (e.g congenital heart defects; anomalies of the kidney; structural brain malformations; congenital hypothyroidism; conductive hearing loss)  The Human Phenotype Ontology provides the following list of signs and symptoms for Peters plus 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) Anterior chamber synechiae 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Exaggerated cupid's bow 90% Glaucoma 90% Intrauterine growth retardation 90% Long philtrum 90% Micromelia 90% Opacification of the corneal stroma 90% Round face 90% Short stature 90% Short toe 90% Thin vermilion border 90% Abnormality of the cardiac septa 50% Abnormality of the pulmonary artery 50% Blepharophimosis 50% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Frontal bossing 50% Hypertelorism 50% Microcornea 50% Nystagmus 50% Oral cleft 50% Preauricular skin tag 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Webbed neck 50% Intellectual disability, progressive 20% Abnormality of female external genitalia 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the nipple 7.5% Abnormality of the ureter 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral cortical atrophy 7.5% Conductive hearing impairment 7.5% Depressed nasal bridge 7.5% Intestinal fistula 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Multicystic kidney dysplasia 7.5% Optic atrophy 7.5% Polyhydramnios 7.5% Renal hypoplasia/aplasia 7.5% Sacral dimple 7.5% Short nose 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Ventriculomegaly 7.5% Visual impairment 7.5% Wide mouth 7.5% Agenesis of corpus callosum - Agenesis of maxillary lateral incisor - Atria septal defect - Autosomal recessive inheritance - Biliary tract abnormality - Bilobate gallbladder - Birth length less than 3rd percentile - Broad neck - Cerebral atrophy - Cleft palate - Cleft upper lip - Clitoral hypoplasia - Conical incisor - Craniosynostosis - Decreased body weight - Diastasis recti - Facial hypertrichosis - Feeding difficulties in infancy - Hemivertebrae - Hydrocephalus - Hydronephrosis - Hypoplasia of the uterus - Hypoplasia of the vagina - Hypoplastic labia majora - Hypospadias - Joint laxity - Limited elbow movement - Macrocephaly - Microtia, second degree - Myopia - Pectus excavatum - Pes cavus - Peters anomaly - Postnatal growth retardation - Preauricular pit - Prominent forehead - Protruding ear - Proximal placement of thumb - Ptosis - Pulmonic stenosis - Retinal coloboma - Rhizomelia - Scoliosis - Seizures - Short foot - Short lingual frenulum - Short metacarpal - Short metatarsal - Short palm - Single transverse palmar crease - Square pelvis bone - Stenosis of the external auditory canal - Syndactyly - Ureteral duplication - Ventricular septal defect - Wide anterior fontanel - 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)