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Results 21 - 30 of 30 for Multiple congenital anomalies
  1. Adams-Oliver syndrome 
    ... that play a role in cellular development in multiple tissues throughout the body. The RBPJ gene mutations ... Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb reduction anomalies Genetic Testing Registry: Adams-Oliver syndrome Genetic Testing ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
  2. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  3. NOG gene 
    ... of the bones in the ears (stapes fixation).Multiple synostoses syndrome 1 is characterized by symphalangism and ... and characteristic facial features like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  4. Parkes Weber syndrome 
    ... Parkes Weber syndrome, capillary malformations occur together with multiple micro-AVFs, which are tiny abnormal connections between ... by RASA1 gene mutations, affected individuals usually have multiple capillary malformations. People with Parkes Weber syndrome who ...
    https://medlineplus.gov/genetics/condition/parkes-weber-syndrome - Genetics
  5. Peters anomaly 
    ... eye disorders) has been reported to occur in multiple members of the same family.Whether sporadic or ... Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. Cornea. 2012 Mar;31(3):293-8. doi: 10.1097/ICO.0b013e31820cd2ab. Citation on PubMed
    https://medlineplus.gov/genetics/condition/peters-anomaly - Genetics
  6. Noonan syndrome 
    ... type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. Mutations in multiple genes can cause Noonan syndrome. Mutations in the ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  7. Alveolar capillary dysplasia with misalignment of pulmonary veins 
    ... J Hum Genet. 2009 Oct;85(4):537. multiple author names added. Citation on PubMed or Free ...
    https://medlineplus.gov/...asia-with-misalignment-of-pulmonary-veins - Genetics
  8. ATN1 gene 
    ... building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. In most people, the ... gene can cause a very rare condition called congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) syndrome. Individuals with this condition have severe ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  9. 48,XXYY syndrome 
    ... thin tooth enamel, crowded or misaligned teeth, and multiple cavities. Additionally, individuals with 48,XXYY syndrome may ... radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, congenital heart ... National Organization ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  10. PAX6 gene 
    ... KERATITIS, HEREDITARY OPTIC NERVE HYPOPLASIA, BILATERAL CATARACT 9, MULTIPLE TYPES; CTRCT9 PAIRED BOX GENE 6; PAX6 NCBI ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
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