Pseudoaminopterin syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PSEUDOAMINOPTERIN SYNDROME
ASSA
Aminopterin syndrome-like sine aminopterin
Number of Symptoms 43
OrphanetNr: 221120
OMIM Id: 600325
ICD-10: Q82.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000316) Hypertelorism 644 / 7739
3
 (HPO:0000248) Brachycephaly 222 / 7739
4
 (HPO:0000341) Narrow forehead 96 / 7739
5
 (HPO:0000677) Oligodontia 41 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0002007) Frontal bossing 366 / 7739
8
 (HPO:0000175) Cleft palate 349 / 7739
9
 (HPO:0002553) Highly arched eyebrow 92 / 7739
10
 (HPO:0000347) Micrognathia 426 / 7739
11
 (HPO:0000218) High palate 356 / 7739
12
 (HPO:0001999) Abnormal facial shape 169 / 7739
13
 (HPO:0009891) Underdeveloped supraorbital ridges 36 / 7739
14
 (HPO:0000256) Macrocephaly 298 / 7739
15
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0001159) Syndactyly 140 / 7739
19
 (HPO:0005676) Rudimentary postaxial polydactyly of hands 1 / 7739
20
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
21
 (HPO:0002943) Thoracic scoliosis 12 / 7739
22
 (HPO:0009778) Short thumb 50 / 7739
23
 (HPO:0009473) Joint contracture of the hand 84 / 7739
24
 (HPO:0001166) Arachnodactyly 62 / 7739
25
 (HPO:0000023) Inguinal hernia 181 / 7739
26
 (HPO:0001537) Umbilical hernia 206 / 7739
27
 (HPO:0004322) Short stature 1232 / 7739
28
 (HPO:0004325) Decreased body weight 492 / 7739
29
 (HPO:0001510) Growth delay 295 / 7739
30
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
31
 (HPO:0002236) Frontal upsweep of hair 8 / 7739
32
 (HPO:0001252) Muscular hypotonia 990 / 7739
33
 (HPO:0030084) Clinodactyly 90 / 7739
34
 (MedDRA:10072883) Brachydactyly 153 / 7739
35
 (HPO:0003812) Phenotypic variability 129 / 7739
36
 (HPO:0045025) Narrow palpebral fissure 8 / 7739
37
 (OMIM) Small palpebral fissures 6 / 7739
38
 (MedDRA:10058668) Clinodactyly 91 / 7739
39
 (OMIM) Irregularly placed teeth 2 / 7739
40
 (OMIM) Limited joint flexion 2 / 7739
41
 (HPO:0001355) Megalencephaly 39 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (OMIM) Cranial bone defects 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects of the skull, dysmorphic facial features, delayed development, and variable limb defects. The clinical features resemble the embryopathy caused by ...
Clinical Description OMIM Herrmann and Opitz (1969) described 'an unusual form of acrocephalosyndactyly' that resembled the phenotype of the syndrome produced by aminopterin in early pregnancy. The patient presented with turribrachycephaly, hypertelorism, blepharophimosis, craniolacunae, syndactyly, and mental retardation. A similar case ...