Patau Syndrome
Trisomy 13 or Patau syndrome (PS) is a chromosomal disorder characterized by a well known presentation of multiple congenital anomalies.[ncbi.nlm.nih.gov]
congenital anomalies.[genome.jp]
Wagner: Multiple congenital anomaly caused by an extra autosome. The Lancet, London, 1960, I: 790. What is an eponym?[whonamedit.com]
Winchester Syndrome
This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.de]
Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple[books.google.de]
Pierre Robin Syndrome
Keywords Patau syndrome trisomy 13 multiple congenital anomalies Pierre Robin syndrome metabolic abnormalities fluorescence in situ hybridization DNA-microarray This is a[doi.org]
[…] heart defect and multiple congenital anomalies.[molecularcytogenetics.biomedcentral.com]
Keywords Pierre robin syndrome; Mobius syndrome; Palatoglossal fusion; Fiberoptic intubation Introduction Pierre Robin Syndrome (PRS) is a congenital syndrome with multiple[omicsonline.org]
Mucopolysaccharidosis
MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different[…][ncbi.nlm.nih.gov]
Turner Syndrome
Cardiovascular anomalies are common and the most clinically frequent is coarctation of the aorta.[magicfoundation.org]
[…] arched palate, micrognathia, broad chest, cubitus valgus, multiple pigmented nevus, abnormal finger nails, intestinal telangiectasia and hypoplastic nipples.[magicfoundation.org]
Characteristics Children with Turner's Syndrome may have the following physical findings; congenital lymphedema, low posterior hair line, webbed neck, prominent ears, high[magicfoundation.org]
Crouzon Syndrome
CONGENITE MULTIPLE CON RITARDO MENTALE RP0040 SINDROME ALCOLICA FETALE[webalice.it]
11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies as a major feature H01754[genome.jp]
More specifically, however, the term has come to imply congenital deformities of the head that interfere with physical and mental well-being. [1] Most craniofacial anomalies[jdrntruhs.org]
Craniosynostosis
Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK[ncbi.nlm.nih.gov]
Maternal pesticide exposure from multiple sources and selected congenital anomalies.[ncbi.nlm.nih.gov]
Most likely, as with many other congenital (present at birth) anomalies, multiple factors can contribute to this condition.[muhealth.org]
Fraser Syndrome
She had multiple congenital anomalies which included a cardiac defect and airway abnormalities.[ncbi.nlm.nih.gov]
Cryptophthalmos refers to a group of uncommon congenital anomalies of eyelid formation that can occur alone or in combination with multiple congenital anomalies as part of[ncbi.nlm.nih.gov]
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. National Library of Medicine. nd. 2pp. www.nlm.nih.gov/mesh/jablonki/syndromes/syndrome302.html[rarediseases.org]
Russell-Silver Syndrome
congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org]
[…] in ICD-11 classification [BR: br08403 ] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD2F Syndromes with multiple structural anomalies, without[genome.jp]
[…] file multimediale Wikipedia Istanza di malattia, difetto dello sviluppo durante l'embriogenesi Sottoclasse di chromosomal disease, nanismo primordiale, inherited tumor, multiple[commons.wikimedia.org]
Cleidocranial Dysplasia
If RUNX2 testing is not diagnostic and if strong suspicion persists in an individual with features of CCD spectrum disorder who also has multiple congenital anomalies and[ncbi.nlm.nih.gov]