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Results 1 - 7 of 7 for Congenital anomaly of face
  1. Fryns syndrome 
    ... Biallelic variants in PIGN cause Fryns syndrome, multiple congenital ... hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  2. Klippel-Feil syndrome 
    ... Central Klimo P Jr, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurg Clin N Am. ... Samartzis D, Lubicky JP, Herman J, Shen FH. Faces of Spine Care: From the Clinic and Imaging ...
    https://medlineplus.gov/genetics/condition/klippel-feil-syndrome - Genetics
  3. Mowat-Wilson syndrome 
    ... without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the ...
    https://medlineplus.gov/genetics/condition/mowat-wilson-syndrome - Genetics
  4. HCFC1 gene 
    ... T, Ogier de Baulny H, Benoist JF. Multiple congenital anomalies in two boys with mutation in HCFC1 and ...
    https://medlineplus.gov/genetics/gene/hcfc1 - Genetics
  5. Congenital fibrosis of the extraocular muscles 
    ... normal head size (microcephaly); muscle weakness in the face; nonfunctioning vocal cords; and a set of symptoms ... their proper locations. Nerves in the head and face (known as cranial nerves) that control muscles that ...
    https://medlineplus.gov/...nital-fibrosis-of-the-extraocular-muscles - Genetics
  6. Cytochrome P450 oxidoreductase deficiency 
    ... abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. Other ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  7. Spondylocarpotarsal synostosis syndrome 
    ... feet (clubfeet). Characteristic facial features include a round face, a large forehead (frontal bossing), and nostrils that ... the disorder. ... Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Hum Mutat. 2017 May;38(5):540-547. ...
    https://medlineplus.gov/.../spondylocarpotarsal-synostosis-syndrome - Genetics