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Disease Profile

Pseudoaminopterin syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q82.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Aminopterin syndrome sine aminopterin; ASSA

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

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.

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.

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 fin

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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