National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Schneckenbecken dysplasia



Other Names:
Chondrodysplasia lethal neonatal with snail like pelvis
Categories:

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

Orpha Number: 3144

Definition
Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

Epidemiology
Less than 20 cases have been reported in the literature so far.

Clinical description
The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.

Etiology
This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)

Genetic counseling
Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2009

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
80%-99% of people have these symptoms
Disproportionate short-limb short stature
Short limb dwarfism, disproportionate
Short-limbed dwarfism
[ more ]
0008873
Fibular hypoplasia
Short calf bone
0003038
Hypoplastic ilia 0000946
Hypoplastic scapulae
Small shoulder blade
0000882
Hypoplastic vertebral bodies
Underdeveloped back bones
0008479
Increased fibular diameter
Wide calf bone
0012107
Lateral clavicle hook
Hook-shaped collarbone
0000895
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Malar flattening
Zygomatic flattening
0000272
Micromelia
Smaller or shorter than typical limbs
0002983
Narrow chest
Low chest circumference
Narrow shoulders
[ more ]
0000774
Polyhydramnios
High levels of amniotic fluid
0001561
Short neck
Decreased length of neck
0000470
Short ribs 0000773
30%-79% of people have these symptoms
Abnormal fingernail morphology
Abnormal fingernails
Abnormality of the fingernails
[ more ]
0001231
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ]
0000268
Hypoplastic toenails
Underdeveloped toenails
0001800
5%-29% of people have these symptoms
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ]
0005616
Advanced tarsal ossification 0008108
Cleft palate
Cleft roof of mouth
0000175
Diaphyseal thickening
Thickening of shaft or central part of long bones
0005019
Dumbbell-shaped long bone 0000947
Percent of people who have these symptoms is not available through HPO
Advanced ossification of carpal bones 0004233
Anterior rib cupping 0000907
Autosomal recessive inheritance 0000007
Brachydactyly
Short fingers or toes
0001156
Flat acetabular roof 0003180
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
0011800
Ovoid vertebral bodies 0003300
Snail-like ilia 0031026
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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


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

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