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Disease Profile

Pyknoachondrogenesis

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q78.8

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)

Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 3003

Definition
A lethal skeletal osteochondrodysplasia characterized by severe generalized osteosclerosis.

Epidemiology
The disease is very rare and only five cases (four males and one female) have been reported in the literature so far.

Clinical description
Pyknoachondrogenesis may be detected prenatally due to the extreme shortening of the limbs and hydrops fetalis, or is recognized at birth. The main clinical manifestations include a large head, palpebral edema, a flat nose, low-set ears, a short neck, a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism.

Etiology
Etiology remains unknown. Familial occurrence of affected sibs of both sexes points to an autosomal recessive pattern of inheritance but parental consanguinity has not been reported.

Diagnostic methods
Diagnosis is based on clinical findings and typical radiographic features. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere.

Differential diagnosis
Achondrogenesis (see this term) is the main differential diagnosis.

Antenatal diagnosis
Prenatal diagnosis of pyknoachondrogenesis may be made by ultrasound.

Prognosis
Pyknoachondrogenesis has a lethal outcome, either prenatally or during the early neonatal period.

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
30%-79% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Abnormal intramembranous ossification
0012790
Abnormality of mouth shape
Anomaly of mouth shape
0011338
Abnormality of the wing of the ilium
0011867
Aplastic pubic bones
Absent pubic bones
0008817
Craniofacial hyperostosis
Excessive bone growth of the skull and face
0004493
Depressed nasal ridge
Flat nose
Recessed nasal ridge

[ more ]

0000457
Enlarged thorax
Wide rib cage
0100625
Horizontal ribs
0000888
Hypoplastic ischia
0003175
Increased head circumference
0040194
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Micromelia
Smaller or shorter than typical limbs
0002983
Muscular edema
0100748
Palpebral edema
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids

[ more ]

0100540
Poorly ossified vertebrae
0100856
Sclerosis of skull base
Dense bone of skull base
0002694
Short iliac bones
Short pelvis bones
0100866
Short long bone
Long bone shortening
0003026
Short ribs
0000773
Short thorax
Shorter than typical length between neck and abdomen
0010306
Unossified sacrum
0030290
Webbed neck
Neck webbing
0000465
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Increased bone mineral density
Increased bone density
0011001
Stillbirth
Stillborn
0003826

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 Pyknoachondrogenesis. Click on the link to view a sample search on this topic.