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  3. Pseudoaminopterin syndrome
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Pseudoaminopterin syndrome


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Other Names:
Aminopterin syndrome sine aminopterin; ASSA
Categories:
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary


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

Orpha Number: 221120

Definition
Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

Symptoms Symptoms


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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 83 |
Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abnormal temporal bone morphology 0009911
Blepharophimosis
Narrow opening between the eyelids
0000581
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Frontal upsweep of hair
Cowlick
Frontal Cowlick
Upswept frontal hair
[ more ]
0002236
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
0002553
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ]
0002996
Low-set, posteriorly rotated ears 0000368
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Patchy reduction of bone mineral density 0010657
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
0000426
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
0000520
Short stature
Decreased body height
Small stature
[ more ]
0004322
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
5%-29% of people have these symptoms
Absent earlobe
Earlobe, absent
Lobeless ears
[ more ]
0000387
Asplenia
Absent spleen
0001746
Brachydactyly
Short fingers or toes
0001156
Broad forehead
Increased width of the forehead
Wide forehead
[ more ]
0000337
Clinodactyly of the 4th finger 0040025
Clinodactyly of the 5th toe 0001864
Clubbing of fingers
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
0100759
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ]
0000268
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
0000324
Fatigable weakness 0003473
Frontal bossing 0002007
Global developmental delay 0001263
Hip subluxation
Partial hip dislocation
0030043
Horseshoe kidney
Horseshoe kidneys
0000085
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of the antihelix 0009739
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Inguinal hernia 0000023
Inverted nipples 0003186
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Microdontia
Decreased width of tooth
0000691
Mild conductive hearing impairment 0008598
Nasal speech
Nasal voice
0001611
Nasogastric tube feeding in infancy 0011470
Ophthalmoplegia
Eye muscle paralysis
0000602
Oral cleft
Cleft of the mouth
0000202
Overlapping toe
Overlapping toes
Overriding toes
[ more ]
0001845
Patent foramen ovale 0001655
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot
[ more ]
0001763
Poor suck
Poor sucking
0002033
Postaxial polydactyly 0100259
Posterolateral diaphragmatic hernia 0025193
Prominent sternum 0000884
Sacrococcygeal pilonidal abnormality 0010767
Sagittal craniosynostosis
Early closure of midline skull joint
Midline skull joint closes early
[ more ]
0004442
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short philtrum 0000322
Short thumb
Short thumbs
Small thumbs
[ more ]
0009778
Single transverse palmar crease 0000954
Slender finger
Narrow fingers
Slender fingers
thin fingers
[ more ]
0001238
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
0002209
Synostosis of carpal bones
Fusion of wrist bones
0005048
Talipes valgus 0004684
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
0006610
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape
Unusual facial appearance
0001999
Arachnodactyly
Long slender fingers
Spider fingers
[ more ]
0001166
Autosomal recessive inheritance 0000007
Brachycephaly
Short and broad skull
0000248
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly
Permanent curving of the finger
0030084
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
0004325
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Joint contracture of the hand 0009473
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Megalencephaly 0001355
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
Narrow forehead
Decreased width of the forehead
0000341
Narrow palpebral fissure
Small opening between the eyelids
0045025
Oligodontia
Failure of development of more than six teeth
0000677
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Rudimentary postaxial polydactyly of hands 0005676
Syndactyly
Webbed fingers or toes
0001159
Thoracic scoliosis 0002943
Umbilical hernia 0001537
Showing of 83 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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 MedlinePlus Genetics.

Research Research


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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.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More Learn More


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

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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