Pseudoaminopterin syndrome

Title

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Other Names:

Aminopterin syndrome sine aminopterin; ASSA

Categories:

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary Summary

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

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

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
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

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

Last updated: 2/1/2021

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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 MedlinePlus Genetics.

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.

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

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.

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Rare Disease Day at NIH 2021
March 1, 2021

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