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1,220 Possible Causes for Congenital Abnormality, Dysmorphic Face

  • Growth Hormone Deficiency

    BACKGROUND: Agenesis of the internal carotid artery (ICA) is a rare congenital abnormality, sporadically reported to be associated with a combined congenital hypopituitarism[ncbi.nlm.nih.gov] Additionally, it can occur in association with other congenital abnormalities such as forebrain defects, optic nerve hypoplasia or cleft lip and palate.[touchendocrinology.com] Congenital structural abnormalities such as septooptic dysplasia, empty sella syndrome, encephalocele, and arachnoid cyst.[symptoma.com]

  • Smith Lemli Opitz Syndrome

    Abstract Patients with Smith-Lemli-Opitz syndrome (SLOS) are born with multiple congenital abnormalities.[ncbi.nlm.nih.gov] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.[icd10data.com]

  • Turner Syndrome

    ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q90-Q99 Chromosomal abnormalities, not elsewhere classified › Q96- Turner's[icd10data.com] About half of the cases may suffer from congenital heart abnormalities.[ncbi.nlm.nih.gov] SMR was increased for coronary diseases, congenital malformations, endocrine diseases, and other causes.[ncbi.nlm.nih.gov]

  • Miller Dieker Syndrome

    In addition to lissencephaly and the facial features of MDS, the affected child had other congenital malformations consistent with distal 17q duplication.[ncbi.nlm.nih.gov] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] Home British & World English Miller–Dieker syndrome Miller–Dieker syndrome noun Medicine A syndrome comprising congenital malformations of the face, brain (absence of cerebral[en.oxforddictionaries.com]

  • Fetal Alcohol Syndrome

    ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q80-Q89 Other congenital malformations › Q86- Congenital malformation syndromes[icd10data.com] Fetal alcohol syndrome (FAS) , various congenital abnormalities in the newborn infant that are caused by the mother’s ingestion of alcohol about the time of conception or[britannica.com] Fetal alcohol syndrome (FAS), various congenital abnormalities in the newborn infant that are caused by the mother’s ingestion of alcohol about the time of conception or during[britannica.com]

  • Renal Osteodystrophy

    Although venous outflow obstructions have been reported in rare bone dysplasias and congenital abnormalities, to date they have not been reported in renal osteodystrophy ([ncbi.nlm.nih.gov] malformations, deformations and chromosomal abnormalities ( Q00-Q99 ) endocrine, nutritional and metabolic diseases ( E00 - E88 ) injury, poisoning and certain other consequences[icd10data.com] […] originating in the perinatal period ( P04 - P96 ) certain infectious and parasitic diseases ( A00-B99 ) complications of pregnancy, childbirth and the puerperium ( O00-O9A ) congenital[icd10data.com]

  • Trisomy 20

    malformations 4 References (Supplied by CrossRef) Non-mosaic trisomy 20 in cultures of amniotic fluid from a fetus with serious congenital malformation Hsieh et al.[pubfacts.com] Abstract A child with a facial dysmorphy and congenital malformations, showed in the chromosome analysis a partial trisomy of chromosome 20.[ncbi.nlm.nih.gov] Moreover, a follow-up ultrasonographic examination did not reveal any major congenital malformations, and a healthy male infant was delivered subsequently at an appropriate[pubfacts.com]

  • Patau Syndrome

    Patau's syndrome (trisomy 13) carries a high mortality rate with multiple congenital abnormalities which result in severe physical and mental impairment.[patient.info] Category Chromosomal abnormality Brite Human diseases [BR: br08402 ] Other congenital disorders Chromosomal abnormalities H01562 Patau syndrome Human diseases in ICD-11 classification[genome.jp] The major clinical findings include cryptorchidism, abnormal auricles, congenital heart defects, polydactyly, microphthalmia, and micrognathia.[genome.jp]

  • Simpson Dysmorphia Syndrome

    , distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild/moderate intellectual deficiency.[hal.archives-ouvertes.fr] […] hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual[se-atlas.de] Simpson-Golabi-Behmel syndrome Synonym for Congenital malformation syndromes involving early overgrowth Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities[averbis.com]

  • Pierre Robin Syndrome

    Congenital abnormalities other than mandibular retrognathia and cleft palate were present in 14 (26%) children. Peripheral limb defects were particularly common.[ncbi.nlm.nih.gov] Because growth is altered in the mandible but may not be altered in other parts of the face, a dysmorphism of the features may progress and become more prominent with age[emedicine.medscape.com] abnormalities or syndromes.[rchsd.org]

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