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Disease Profile

Pseudotrisomy 13 syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Holoprosencephaly polydactyly syndrome; Pseudo trisomy 13 syndrome; Young-Maders syndrome

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2166

Definition
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).

Epidemiology
Incidence is unknown.

Clinical description
Dysmorphic features include hypotelorism, severe eye anomalies such as microphtalmia or anophtalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common.

Antenatal diagnosis
Antenatal diagnosis is possible by ultrasonographic monitoring.

Genetic counseling
The condition seems to be inherited as an autosomal recessive trait.

Prognosis
Prognosis is poor.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hypoplasia of penis
Underdeveloped penis
0008736
Hypoplasia of the premaxilla
Hypoplasia of the primary palate bone
Premaxillary bone deficiency
Primary palate bone deficiency
Small premaxilla
Small primary palate bone
Underdevelopment of the premaxilla
Underdevelopment of the primary palate bone

[ more ]

0010650
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Microphthalmia
Abnormally small eyeball
0000568
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger

[ more ]

0001162
30%-79% of people have these symptoms
Abnormal cardiac septum morphology
0001671
Abnormal lung lobation
0002101
Abnormality of the hypothalamus-pituitary axis
0000864
Adrenal hypoplasia
Small adrenal glands
0000835
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Anal atresia
Absent anus
0002023
Aplasia/Hypoplasia of the corpus callosum
0007370
Cleft palate
Cleft roof of mouth
0000175
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Holoprosencephaly
0001360
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypospadias
0000047
Low-set, posteriorly rotated ears
0000368
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Thyroid hypoplasia
Small thyroid gland
0005990
5%-29% of people have these symptoms
Abnormal localization of kidney
Abnormal localisation of kidneys
0100542
Absent nares
Missing nostrils
0100596
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Cyclopia
Single central eye
Cyclops eye

[ more ]

0009914
Encephalocele
0002084
Intestinal malrotation
0002566
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Narrow mouth
Small mouth
0000160
Omphalocele
0001539
Polyhydramnios
High levels of amniotic fluid
0001561
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney

[ more ]

0008678
Talipes
0001883
Umbilical hernia
0001537
Percent of people who have these symptoms is not available through HPO
11 pairs of ribs
0000878
2-3 toe syndactyly
Webbed 2nd and 3rd toes
0004691
Abnormality of the respiratory system
0002086
Agenesis of corpus callosum
0001274
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal recessive inheritance
0000007
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus

[ more ]

0000813
Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

0001680
Complete atrioventricular canal defect
0001674
Dextrocardia
Heart tip and four chambers point towards right side of body
0001651
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hemivertebrae
Missing part of vertebrae
0002937
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Median cleft lip and palate
Central cleft lip and palate
Midline cleft lip/palate

[ more ]

0008501
Micropenis
Short penis
Small penis

[ more ]

0000054
Polymicrogyria
More grooves in brain
0002126
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Renal agenesis
Absent kidney
Missing kidney

[ more ]

0000104
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Tricuspid atresia
0011662
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudotrisomy 13 syndrome. Click on the link to view a sample search on this topic.

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