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

Collins Pope syndrome


Other Names:
Dislocation of the hip dysmorphism
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2412

Definition
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.

Visit the Orphanet disease page for more resources.
Last updated: 9/1/2017

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.

Showing of 20 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal cardiac septum morphology 0001671
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] 		0000174
Abnormal tricuspid valve morphology 0001702
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Congenital hip dislocation
Dislocated hip since birth
0001374
Depressed nasal ridge
Flat nose
Recessed nasal ridge
[ more ] 		0000457
Deviation of finger
Atypical position of finger
Finger pointing in a different direction than usual
[ more ] 		0004097
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Hearing abnormality
Abnormal hearing
0000364
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Malar flattening
Zygomatic flattening
0000272
Narrow mouth
Small mouth
0000160
Prominence of the premaxilla
Anterior position of the premaxilla
Anterior position of the primary palate bone
Prominence of the primary palate bone
[ more ] 		0010759
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
5%-29% of people have these symptoms
Abnormality of fontanelles 0011328
Abnormality of the knee 0002815
Abnormality of the urinary system
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ] 		0000079
Inguinal hernia 0000023
Patent ductus arteriosus 0001643
Showing of 20 |
Last updated: 7/1/2020

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.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.