[…] onset: Antenatal, Neonatal ICD-10: Q82.0 OMIM: 600325 UMLS: C0795939 MeSH: - GARD: 4544 MedDRA: - A summary on this disease is available in Deutsch (2012) Español (2012) Italiano (2012) Nederlands (2012) The documents contained in this web site are presented [orpha.net]

Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises $299 Million January 23, 2019 By Daniel S. [globalgenes.org]

Flexion spasms are the usual presenting symptoms in the infant. Severe mental retardation is almost invariably present. [rrnursingschool.biz]

Bowing of the limbs may be present in rhizomelic and mesomelic dysplasia. Rhizomelic and mesomelic dysplasia are encountered in cases of dwarfism including many osteochondrodysplasias. [link.springer.com]

The more common causes of these abnormalities are presented below. [entokey.com]

• Short Stature

  Also associated with mild-to-moderate intellectual deficit and short stature. [ncbi.nlm.nih.gov]

  Short stature monodactylous ectrodactyly cleft palate Short stature prognathism short femoral necks Short stature Robin sequence cleft mandible hand anomalies clubfoot Short stature talipes natal teeth Short stature valvular heart disease Short stature [sosu.us]

• Developmental Delay

  A developmental anomaly syndrome that resembles aminopterin embryopathy without history of exposure in utero to aminopterin. [ncbi.nlm.nih.gov]

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

  Orpha Number: 221120 Disease definition Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy (see this term) without history of fetal exposure to aminopterin. [rarediseases.info.nih.gov]

  Developmental delay is common, and intellectual disabilities are seen in 50-85 percent of cases. [cincinnatichildrens.org]

  delay neurological abnormalities Pili torti nerve deafness Pili torti onychodysplasia Pili torti Pillay syndrome Pilo dento ungular dysplasia microcephaly Pilonidal cyst Pilotto syndrome Pinealoma Pinheiro Freire Maia Miranda syndrome Pinsky Di George [wikidoc.org]

• Arachnodactyly

  […] of head or neck Abnormal facial shape Brachycephaly Frontal bossing High palate Highly arched eyebrow Macrocephalus Microcephaly Micrognathia Narrow forehead Narrow palpebral fissure Oligodontia Underdeveloped supraorbital ridges Abnormality of limbs Arachnodactyly [ncbi.nlm.nih.gov]

  Showing of 35 | 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 [rarediseases.info.nih.gov]

  […] with hand present Congenital absence/hypoplasia of thumb Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital bowing of long bones Congenital cataracts-facial dysmorphism-neuropathy syndrome Congenital contractural arachnodactyly [se-atlas.de]

  Cole-Carpenter dysplasia Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Congenital absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly [icd9data.com]

• Inguinal Hernia

  Brachydactyly Clinodactyly Frontal bossing Inguinal hernia Joint contracture of the hand Macrocephalus Microcephaly Micrognathia Non-syndromic syndactyly Rudimentary postaxial polydactyly of hands Short thumb Thoracic scoliosis Umbilical hernia Abnormality [ncbi.nlm.nih.gov]

  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 Inguinal [rarediseases.info.nih.gov]

• Short Finger

  Brachycephaly Short and broad skull 0000248 Brachydactyly Short fingers or toes 0001156 Cleft palate Cleft roof of mouth 0000175 Clinodactyly Permanent curving of the finger 0030084 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 [rarediseases.info.nih.gov]

• High Arched Palate

  We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick [ncbi.nlm.nih.gov]

  American journal of medical genetics 1993 We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched [semanticscholar.org]

  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 [findexpertmd.com]

• Low Set Ears

  […] bridge * Cleft palate * Low-set ears * Short limbs * Missing fingers * Talipes equinovarus * Hydrocephalus Diagnosis signs and symptoms of Pseudoaminopterin syndrome may vary on an individual basis for each patient. [checkorphan.org]

  […] malformation Low-set ears Posteriorly rotated ears Growth abnormality Decreased body weight Intrauterine growth retardation Short stature IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide [ncbi.nlm.nih.gov]

  […] hernia 0000023 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 Macrocephaly Increased size of skull Large [rarediseases.info.nih.gov]

  Some of these include: large head with a relatively small face depressed nose with nasal openings turned forward underdeveloped jaw a narrow nose bridge with eyes close together low-set ears that are turned to the back short neck partially fused fingers [encyclopedia.com]

• Frontal Upsweep of Hair

  […] of hair) FG syndrome (Frontal upsweep of hair) Johanson-Blizzard syndrome (Frontal upsweep of ... ... [familydiagnosis.com]

  upsweep of hair Highly arched eyebrow Abnormality of the musculoskeletal system Arachnodactyly Brachycephaly Brachydactyly Clinodactyly Frontal bossing Inguinal hernia Joint contracture of the hand Macrocephalus Microcephaly Micrognathia Non-syndromic [ncbi.nlm.nih.gov]

  […] bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Highly arched eyebrow Arched eyebrows Broad [rarediseases.info.nih.gov]

• Brachydactyly

  Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly [ncbi.nlm.nih.gov]

  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 [findexpertmd.com]

  […] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly type C Brachydactyly type E Brachydactyly-arterial hypertension syndrome Brachydactyly-elbow [se-atlas.de]

• Macrocephaly

  Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism OMIM : 57 The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin; ASSA) is a multiple congenital anomaly disorder characterized by ossification defects [malacards.org]

  […] spaced eyes [ more ] 0000316 Inguinal hernia 0000023 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 Macrocephaly [rarediseases.info.nih.gov]

  […] delay syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome Macrodactyly of fingers Macrodactyly of fingers, bilateral Macrodactyly of fingers, unilateral Macrodactyly of toes Macrodactyly of toes, bilateral Macrodactyly of toes, unilateral Madelung [se-atlas.de]

  2.2 Fet 3 Fg 4 Fi 4.1 Fib-Fil 4.2 Fin-Fit 5 Fl 6 Fo 7 Fr 7.1 Fra 7.2 Fre-Fri 7.3 Fro-Fru 7.4 Fry 8 Fu Fa Fab Fabry's disease Fac Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly [bionity.com]

  Ghosal hematodiaphyseal dysplasia syndrome Genuine diffuse phlebectasia X-linked hypophosphatemia Hemoglobin E disease Pfeiffer Mayer syndrome Thumb deformity Multiple pterygium syndrome lethal type Dandy-Walker malformation with mental retardation, macrocephaly [checkrare.com]

• Small Head

  Symptoms * Short skull * Pointy skull * Premature fusion of skull bones * Underdeveloped cheekbone * Ogival palate * Small jaw * Abnormal ears * Mental retardation * Physical retardation * Small body * Small head * Underdeveloped skull bones * Broad nasal [checkorphan.org]

  Large head circumference [ more ] 0000256 Megalencephaly 0001355 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower [rarediseases.info.nih.gov]

  Children with familial small stature or growth retardation from any cause have a proportionally small head, and not microcephaly. Thus, the term 'microcephaly' implies a disproportion between the head and the remainder of the body. [rrnursingschool.biz]

• Hypertelorism

  Main features include craniosynostosis, dysmorphic features including ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears.Limb anomalies include brachydactyly, syndactyly [ncbi.nlm.nih.gov]

  It is characterized by skull ( craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia ... 1 ... [familydiagnosis.com]

  It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathiacleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly [malacards.org]

  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 [findexpertmd.com]

• Narrow Forehead

  [from SNOMEDCT_US] Show allHide all Abnormality of head or neck Abnormal facial shape Brachycephaly Frontal bossing High palate Highly arched eyebrow Macrocephalus Microcephaly Micrognathia Narrow forehead Narrow palpebral fissure Oligodontia Underdeveloped [ncbi.nlm.nih.gov]

  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 [rarediseases.info.nih.gov]

  Metopic Synostosis (trigonocephaly) This form of synostosis is relatively uncommon (less than 10 percent of cases) and is characterized by a bony ridge in the midline of the forehead, a triangularly shaped head, a narrow forehead and eyes that are positioned [cincinnatichildrens.org]

• Frontal Bossing

  [from SNOMEDCT_US] Show allHide all Abnormality of head or neck Abnormal facial shape Brachycephaly Frontal bossing High palate Highly arched eyebrow Macrocephalus Microcephaly Micrognathia Narrow forehead Narrow palpebral fissure Oligodontia Underdeveloped [ncbi.nlm.nih.gov]

  bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Highly arched eyebrow Arched eyebrows Broad [rarediseases.info.nih.gov]

  It produces a boat-shaped head that is longer than it is wide, and is associated with frontal bossing and a palpable ridge along the closed suture. [cincinnatichildrens.org]

• Global Developmental Delay

  developmental delay Megalencephaly Microcephaly Ear malformation Low-set ears Posteriorly rotated ears Growth abnormality Decreased body weight Intrauterine growth retardation Short stature IMPORTANT NOTE: NIH does not independently verify information [ncbi.nlm.nih.gov]

  developmental delay 0001263 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 [rarediseases.info.nih.gov]

  […] membranous cranial ossification Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Desbuquois syndrome Desmosterolosis Developmental and speech delay due to SOX5 deficiency Developmental delay-deafness syndrome, Hildebrand type Diaphanospondylodysostosis [se-atlas.de]

• Cryptorchidism

  Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and growth retardation [ncbi.nlm.nih.gov]

  JOURNAL ARTICLE Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism [read.qxmd.com]

  Abstract Pseudoaminopterin syndrome or aminopterin syndrome-like sine aminopterin (ASSA syndrome--OMIM 600325] is a rare autosomal recessive syndrome defined by characteristic dysmorphic features, skeletal defects, limb anomalies, cryptorchidism, and [pubmed.ncbi.nlm.nih.gov]

  Spider fingers [ more ] 0001166 Autosomal recessive inheritance 0000007 Brachycephaly Short and broad skull 0000248 Brachydactyly Short fingers or toes 0001156 Cleft palate Cleft roof of mouth 0000175 Clinodactyly Permanent curving of the finger 0030084 Cryptorchidism [rarediseases.info.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

Full text links Group 7SearchHeart failure treatmentPapersTopicsCollectionsEffects of Sodium-Glucose Cotransporter 2 Inhibitors for the Treatment of Patients With Heart Failure Importance: Only 1 class of glucose-lowering agents-sodium-glucose cotransporter [read.qxmd.com]

The clinical features resemble the embryopathy caused by maternal treatment with the folic acid antagonist aminopterin, which has been recognized since 1952 (Thiersch, 1952) when aminopterin was used as an abortifacient. [ncbi.nlm.nih.gov]

Prognosis - Pseudoaminopterin syndrome Not supplied. Treatment - Pseudoaminopterin syndrome Not supplied. Resources - Pseudoaminopterin syndrome Not supplied. [checkorphan.org]

Prognosis Crane-Heise syndrome is a lethal disorder and infants are usually stillborn or survive only a few days after birth. Malformations of the brain and vertebrae are usually severe and cannot be corrected surgically. [encyclopedia.com]

Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused [geneeskundeboek.nl]

Cohen MM Jr: An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects 11 (No. 2): 137–189, 1975 Cohen MM Jr: An etiologic and nosologic overview of craniosynostosis syndromes. [thejns.org]

Each chapter includes a description of the specific abnormality - including occasional associated abnormalities - natural history, etiology, and references. [geneeskundeboek.nl]

The etiology is undetermined; however, there is an insult that affects the development in the fetus during the first trimester that results in mal development of the involved structures during embryogenesis.24 Although mostly sporadic, autosomal dominant [entokey.com]

General Principles and Etiology, p. 309. Edited by Wilson, J. G. & Fraser, F. C.Plenum, New York.CrossRefGoogle Scholar Wilson, J.G. (1977b) Teratogenic effects of environmental chemicals. Fedn Proc Fedn Am. [cambridge.org]

SPERLINGDEVRIESKEDEM OAO: Studies on the etiology of uric acid lithiasis. IV. Urinary non-dialyzable substances in idiopathic uric acid lithiasis. J. Urol. 94: 286, 1965. CrossrefMedlineGoogle Scholar 81. [acpjournals.org]

In: Contributions to Epidemiology and Biostatistics, Vol. 1. Epidemiologic Methods for Detection of Teratogens, p. 184. [cambridge.org]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

TURNERFRANKVAN AUSDALBALLET REMJDAJ: Some aspects of the epidemiology of gout. Sex and race incidence. Arch. Intern. Med. (Chicago) 106: 400, 1960. CrossrefMedlineGoogle Scholar 86. [acpjournals.org]

In the "Epidemiology" subsection underneath, the spec- trum of neurological manifestations in GRDs is reviewed, recent advances in their diagnosis are discussed and possible pathophysiological mechanisms are explored. [cardinalpub.com]

Epidemiology PSS affects up to 4% of the grown up denizens, a semblance that makes it equal of the three most mutual autoimmune diseases. [waittfoundation.org]

In the "Epidemiology" subsection underneath, the spec- trum of neurological manifestations in GRDs is reviewed, recent advances in their diagnosis are discussed and possible pathophysiological mechanisms are explored. [cardinalpub.com]

Prevention - Pseudoaminopterin syndrome Not supplied. Diagnosis - Pseudoaminopterin syndrome signs and symptoms of Pseudoaminopterin syndrome may vary on an individual basis for each patient. [checkorphan.org]

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Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

On the day of the surgery, please be prepared to offer this information; it is very important in preventing possible reactions to anesthetic agents that may be used during the surgery. [cincinnatichildrens.org]

They may be habituated to to prevent hypogly- cemia, conspicuously in young children and infants. [cardinalpub.com]