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Patau's and Edwards' syndromes
Trisomy 13 & 18
Pseudotrisomy 13 syndrome: A very rare chromosomal disorder characterized mainly
by abnormal forebrain development (holoprosencephaly), underdeveloped midface and extra fingers.
More detailed information
about the symptoms, causes, and treatments of Pseudotrisomy 13 syndrome is available below.
Symptoms of Pseudotrisomy 13 syndrome· Extra finger Underdeveloped midface
Extra finger Underdeveloped midface Holoprosencephaly Build up of fluid inside skull Wide set eyes
The list of signs and symptoms mentioned in various sources for Pseudotrisomy 13 syndrome includes the 22 symptoms listed below:
- Extra finger
- Underdeveloped midface
- Build up of fluid inside skull
- Wide set eyes
- Narrow eye slits
- Closely spaced eyes
- Cardiac septal defect
- Abnormal brain development
- Small eyes
- Small jaw
- Cleft lip
- Cleft palate
- Choanal atresia
- Underdeveloped adrenal cortex
- Liver anomalies
- Small penis
- Extra toes
- Pancreatic anomaly
- Narrowed aqueduct of sylvius
- Polycystic kidneys
- Undescended testes
- Note that Pseudotrisomy 13 syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Pseudotrisomy 13 syndrome signs may refer to those signs only noticable by a doctor.
- More ways to research these symptoms: To research other symptoms use the symptom center, or to research causes of more than one symptom in combination, try our multi-symptom search.
SYMPTOMS AND SIGNS:
A wide spectrum of clinical findings exists in HPE. In the most severe form, there is complete continuity across the midline of the forebrain with a single ventricle (alobar HPE). In the lobar form, the lateral ventricles are separated but the forebrain is still partially continuous across the midline. The clinical range occurs in a continuum from alobar HPE to continuity only across the most ventral basal portion of the cerebral cortex. Hydrocephalus may occur. Pituitary anomalies may be present and may be associated with hypernatremia (due to diabetes insipidus), adrenal hypoplasia, hypothyroidism, and hypogonadism. Craniofacial anomalies are commonly present, although some affected children have relatively normal facies. Affected individuals often have hypotelorism, cleft lip/palate (often midline), a flat hypoplastic nose, and microcephaly. More severe defects of the eyes (e.g., cyclopia) and face may also occur. Developmental delay and mental retardation are almost invariably present in all patients with brain malformations. Seizures may also occur.
The disorder occurs in approximately 1 in 16,000 live births. Males and females are affected in a large number of ethnic groups. The etiology is heterogeneous, and both environmental (e.g., maternal diabetes) and genetic causes have been noted. Approximately one half of patients have a cytogenetic abnormality, most frequently trisomy 13. Although most cases occur sporadically, autosomal-dominant transmission has been noted. Pedigrees consistent with autosomal-recessive and X-linked inheritance have also been described. Mutations in each of several genes have been noted in affected individuals, and genes identified causing HPE in humans include sonic hedgehog, ZIC2, TGIF, and SIX3.
Facial features characteristic for HPE may suggest the diagnosis in the newborn period. CT or MRI of the brain can confirm the diagnosis. Severe cases of HPE can often be detected on prenatal ultrasonography at approximately 16 weeks’gestation, although less severe forms may not be reliably detected. A prenatal history should be obtained to determine if any teratogen exposure occurred. A karyotype for chromosome analysis should be obtained.
Standard Therapies: Treatment is based on the specific organ system involved and is symptomatic and supportive. Appropriate interventions for seizures, hydrocephalus, cleft lip/palate, feeding difficulties, and developmental delay should be instituted as indicated. The physician should be alert for signs of pituitary dysfunction. Referral to a clinical geneticist is indicated to obtain a karyotype and for evaluation for associated syndromes and recurrence risk estimation. Features consistent with familial transmission of the disease (e.g., a single central maxillary incisor) should be carefully assessed in parents and family members.