Pyknoachondrogenesis

Title

Other Names:

Association of skeletal defects resembling achondrogenesis with generalized bone sclerosis

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary Summary

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

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.

Last updated: 11/1/2008

Symptoms 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.

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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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Pyknoachondrogenesis. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Pyknoachondrogenesis:
International Skeletal Dysplasia Registry (ISDR)

Learn More 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.

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